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PART 7

Annexes to the Final Report of the

FORMAKIN Project

TSER Programme Stage II

Annexes to

Work Package 5/6 Country Case Studies

Jan 2001

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Electronic Patient Record in the Netherlands 3 A Case Study 3 Electronic Patient Record in the Netherlands 3 Telemedicine in the Netherlands 15 Genetic Diagnostics in the Netherlands 23 Gene Therapy in the Netherlands 37 Electronic Patient Record (EPR) in Spain 45 Telemedicine in Spain 52 Genetics Diagnostics and Gene Therapy In Spain 58 The Electronic Patient Record in the UK 66 Telemedicine in the UK 76 Genetic Diagnostics in the UK 84 Gene Therapy in the UK 91

Electronic Patient Record in the Netherlands A Case Study

Introduction The electronic patient record within the context of Dutch healthcare practice has had an acutely problematic history. Whilst enormous emphasis has been placed on the need to develop systems to support an electronic version of patient records, enormous organisational challenges have hindered the emergence of cooperation between necessary actors. Not least, and discussed at greater length below, the aspirations of Government have been too ambitious whilst failing to strengthen nearer-term (and more modest) measures as a basis for future EPR. In what follows, we will seek to identify some of the main organisational and technical characteristics of EPR in the Netherlands whilst drawing particular attention to differences in the source and characteristics of EPR- related expectations. Discussion of sector dynamics within the configuration

Science and Technology Development The Dutch University hospitals were the first in the health sector to computerise, beginning in the 1970s. Today, ZIS (Hospital Information System) software is broadly used in the Netherlands but with a very poorly developed technical infrastructure: “With a few exceptions, the processing of information on paper nowhere is really threatened” (Berg et al 1998). A second wave of computerisation in the Netherlands emerged among GPs during the 1990s. In 1991 – on the basis of a report written by the LHV and the Health Insurers – the Ministry began encouraging GPs to acquire HIS (GP Information System) through subsidies. The initiative, coordinated by the LHV, appears to have succeeded with more than 80% of Dutch GP’s uses a HIS today. While Dutch GPs are extremely well organised with a high ‘informatiseringsgraad’, other groups lack far behind (as is the case in the USA and other European countries as well). A recent survey showed that roughly 5% of physicians use a computer (Edgar et al 1999) mainly for personal administration rather than complex data gathering or exchange of information with other departments. The basic idea of the EPR is to have a (virtual) file with the medical history (including tests results) of a patient that can easily move to and from the different sites of healthcare in a hospital, city, region, nation, or even Europe. Though the development of EPR’s has been promoted since the early nineties and expectations on the possibilities are still huge. However, the reality is that we are still very far away from using EPRs in practice. There is then a formidable gap between expectations surrounding EPR and its reality (Berg, 1998). One of the main problems is the fact that automation within the healthcare sector has so far developed within single locations and lacks broader alignment ('eilandautomatisering') (WRR 1997). Today, computer-aided automation is largely confined to administrative processes. Some small EPR systems are in use but they are rather limited in what they can and cannot do in terms of integration and exchange. Most EPR’s are local systems that connect only one or two different groups but almost always within the same hospital or primary care health center (for example GP and Chemist or Radiology department and Neurology department). Though the EPR in the Netherlands is still far away from practice, this is not to say that it disproportionately lags behind other advanced nations. On the contrary, the Netherlands is widely considered to be taking a lead in moving towards EPR-development. Expectations, uncertainties and innovation management: Two EPR-scenario’s Though there are some technologies (like speech recognition, handwriting recognition and biometry) that are still in a developmental stage, in general most technologies that are needed to build an EPR are thought to be already sufficiently developed. The main challenge is to apply these technologies within an operative EPR system. Expectations and promises differ especially on this organisational or human aspect of the EPR-system, and much less so on the technical side. There are choices that have to be made or as one of the respondents said, the EPR does not exist, there are different

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functionalities that can be accomplished using ICT-technology. In case of EPR, preferred functionalities, perceived barriers and innovation management style are all firmly intertwined. That’s why they are not treated separately in this appendix, but in an integrative manner. In the Netherlands roughly two different EPR-scenario’s can be distinguished, each linking the preferred functionalities to the perceived barriers and innovation management style. The first scenario is visible in IPZorg, VIZI, the Health Card Imitative, ZON’s ICZ programme and the ambition of CSIZ (see below: Hybrid Platforms / co-ordination and steering groups). This scenario, as most of these associated programmes, is very much propagated and stimulated by the Ministry of Health. The scenario refers to the possibility of aligning different local and regional initiatives in order to co-ordinate the development of a national EPR. Different EPR-functionalities are intended within this scenario, all of which have in common the national exchange and aggregation of data. It is widely suggested that these functionalities will contribute to more general aims, such as cost-reduction, patient-oriented care, efficiency and quality improvement. Empirical evidence to demonstrate potential or likely efficacy is however still largely lacking (interview Van de Kam). One of the main barriers for this scenario is the fact that many organisations have developed (and are developing) their own systems in which choices have been made but where there is little room for extending existing functions, applications and use. Government policy for long has been one of ‘let 1000 flowers blossom’. For example in the Stimulation programme ‘Volksgezondheid transparant’ (1992-1994) the ministry of health subsidised a large number (140) of different ICT projects in healthcare. Many subsidies were given for rather small projects that were never co-ordinated on a more national level and thus did not lead to any form of aggregation. As a consequence, today, the co-ordination between hospitals for example remains deeply problematic (Berg et al 1998). Innovation management within this first scenario therefore now focuses on standardization and national co-ordination of the EPR-development. The second EPR-scenario can be found among academic researchers, especially in the interviews with Moorman, Van de Kam and – in a different way – De Vries Robbe. Moorman and Van de Kam questioned the ZON ICZ-programme for being too ambitious and put questioned the likelihood of co-operation and common goal-sharing. In their view, the most important barrier for the development of EPR is not the co-operation between different groups, but the enrolment of healthcare providers. Two specific arguments are relevant here. First of all, computerization of care processes is thought to imply an enormous change of healthcare practice - so many healthcare practitioners will be very reluctant to apply the new technologies. Moorman, Van de Kam and De Vries-Robbe – and also sociological literature on the subject1 - claim that the current practice of care-professionals has to be transformed in order for ICT–applications to be implemented and used in this practice. Key to such a development is the recognition and understanding that the EPR (and other ICT applications like expert systems etc.) is not to be seen as a replacement of current activities but that this inherently involves a transformation of current activities. Consequently, the meaning of cure and care and the relationship between doctors, patients and other professionals will be transformed as well. The paper record cannot simply be ‘replaced’. The implementation of a CPR is a process in which the whole practice is transformed – including the relationships between physicians and nurses, the distribution of responsibilities, and the content of the work Berg, 1998, p.300). Second, the envisioned benefits are primarily found on an aggregate level of healthcare, direct benefits for healthcare providers, who are the prime users, are much less clear. This second EPR-scenario therefore suggests that there is little likelihood that EPR will be realised if physicians are not convinced of the potential benefits of EPR. Instead of focussing on standardisation and national alignment, this scenario takes local development and local functionalities as its starting point. The ‘Breekpunt project’ (which metaphorically meaning can be translated as ‘turnover project’ – see below) is a very clear example of this scenario:

So we have to start simple now, start with a version that stays close to today’s practices. That’s the ‘breekpunt’-philosophy. We are not going to do communication, based on data-sharing. No, we start with a simple little system, that’s able to transmit electronic data in a

1 See Marc Berg (1995,1996) for example

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traditional way. That’s a first step in the right direction. Later, those other steps will follow” (interview Moorman)

‘Breekpunt’, in light of this vision, therefore is set up as follows:

‘Breekpunt’ is build around communication within the EPR. The communication machine works fairly simple: parts of the letters being send between different healthcare professionals (from GP to chemist or specialist or from the hospital lab to the specialist or GP) are being saved within the patient’s EPR. In this manner, GP’s and specialists have direct access to the patient’s medical data.” (interview Van de Kam)

Prof. De Vries-Robbe thought that univocal medical terminology and reasoning will be the bottleneck in future EPR-development. Enrolment of clinicians - who have to make major investments to achieve a more or less univocal medical terminology - is fundamental. De Vries-Robbe is examining ‘problem translations’ to enrol clinicians. For example, the transfer of patient data between day and night shifts or between part-timers is such a problem translation. Prof. Hasman also acknowledges the fact that clinicians are an important barrier for the functioning of an EPR. He mentions that f.e. surgeons are very much convinced that they make the right diagnosis (not rightly so) and that this forms a barrier for the use of decision support systems. Hasman tries to link these systems to other functions that are meant to enrol the surgeons (such as administrative functions). Public Role None of the interviewees thought that public acceptance will be a problem for the development of an EPR. So far patient organisations are not really concerned with the development, though they do participate in the different platform initiatives. Concerns about privacy-issues are mostly put forward by government officials (Roskam-Abbinge f.e.), the technology assessment office (Rathenau-instituut) and the Dutch Registration Chamber (see below). In general patients are thought to stimulate the EPR-development, because they become ever more demanding and critical. One of the academic researchers has thought about enrolling patients by developing a ‘citizen initiated record’. Thus the patient asks the medical specialist to keep their record and the EPR-development becomes less dependent on the enthusiasm of specialists. One such ‘citizen initiated record’ already exists. About 7000 Dutch people have a Medlook dossier, an internetbased EPR. Formality of a set of actors Wide range of recently formed platforms, co-ordination and steering groups next

to a wide range of independent local or regional pilot projects. ‘Eilanden cultuur’ Plenitude of relatively autonomous actors (autonomous professions and hospitals) with conflicting interests and priorities.

Binding rules Two different EPR-scenarios exist: top-down (to secure a national EPR) vs. bottom-up (to enrol practitioners) development Standardization (of terminology and technology) badly needed for first scenario, but problematic (because of history of independent ZIS and because of the tacit nature of medical knowledge) Privacy-issues not problematic for the second scenario, problematic for the first scenario, but technology being developed to tackle the problem.

Resource Dependencies High for first scenario, projects and initiatives die after subsidy comes to an end. Though, much lower within the second scenario, local and regional pilot projects do not depend on external financing. Private firms not willing to invest, because of lack of standardisation and because the health sector is notorious for being a difficult sector to work with. Ministry of Health is only willing to facilitate the development, major investments have to come from hospitals. Public acceptance not thought of as being problematic Information specialists

Durability of relationships

Only a few companies have a long term (10 years) involvement in health ICT

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Actors

Government / Policy actors Ministry of Health - The Ministry of Health is probably the most active promoter of the development of a national EPR (in Dutch EPD, Electronisch Patienten Dossier). Over the last decade their policy has been to subsidise platforms and committees for co-ordination and standardisation and to subsidise stimulation programs such as ‘Volksgezondheid Transparant’ in the early nineties and the ZON/NWO-MW ICZ (Information and Communication in Health) programme. For the year 2000 and 2001 the budget for ICT is 220 million guilders. Ministry of Economic Affairs - The Ministry of Economic Affairs promotes the development of ICT in general. Within this context they also stimulate and subsidise ICT projects in healthcare. Their ICT-paradigm differs slightly from the Ministry of Health. Apart from the EPD they also try to promote the development of tele-medicine. The ministry facilitates projects such as NAP (National Actionplan Electronic Highways). Under this initiative, in 1998 Dfl. 2 million (0,9 million Euro) was made available for explorative studies on ‘ICT in healthcare’ (Zorg 2000 in proefregio Delft)

Regulatory Bodies NNI (Nederlands Normalisatie Instituut) - The development of standards for IT in the healthcare sector is one of many areas of expertise of the Netherlands Standardisation Institute (Nederlands Normalisatie Instituut, NNI). Covered are norms for classification and terminology, data transfer, data security and chipcards. The NNI has no history of working in the health sector. Because of this and because of overlapping responsibilities with the CSIZ (see below), they’ve got difficulty to perform there tasks (interview De Vries-Robbe).

De Registratiekamer - The Dutch Registration Chamber is concerned with the protection of the privacy of civilians concerning registration of individual data. Developments in ICT are its major area of inquiry. The Registration Chamber is increasingly involved in discussions about new technological developments regarding patient data. CSIZ (Coordinatiepunt Standaardisatie Informatievoorziening in de Zorg) - The CSIZ (Co-ordination point Standardisation of Information Service in Care) was founded in 1995 and has as its central aim to promote, facilitate and coordinate standardization within the healthcare sector. They took over activities from the WCC (workgroup classifications and definitions) from the NRV (National Council for Public Health) and the ITN (Interconnectivity and Telematics in Dutch Healthcare). The CSIZ directs its activities not only to ICT and EPR but also on standardisation in more general terms such as the articulation of protocols and so on. In this body, organisations of patients, insurers, and healthcare providers take part. In the past few years, the CSIZ has had a troubled existence. Now that the KNMP, the Royal Dutch Pharmacists’ organisation, and the KNMG, the Royal Medical Society, have re-joined, the CSIZ is made up of fifteen organisations. Though CSIZ claims to have an important role, in practice it does not seem to have much influence, at least at present. None of the interviewees defined the CSIZ as relevant. The CSIZ only functions as long as its members have faith and trust in the way it handles particular issues. The legitimacy of their actions strongly depends on their ability to align different views, aims and actors.

COSIM (Coördinatiepunt voor Standaardisatie en Informatisering in de Medische sector) – The ‘Co-ordination point Standardisation and Computerisation in the Medical sector’ (COSIM), is a smaller initiative of medical professionals, working closely together with the CSIZ. Public research / Universities Research into health applications of information technology is conducted in the Netherlands at all eight universities with a medical faculty, and at the three technical universities. The quantity and coverage of this research, however, differs greatly.2 The five largest research groups in 1995 were the Medical

2 Blad, R. and H. Docter (1989), Sector document Medische Technologie, The Hague: Ministry of Economic Affairs. See also http://www.mi.unimaas.nl/mined.htm.

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Informatics groups at the universities of Amsterdam (VU), Rotterdam, Nijmegen, Maastricht and Leiden. Several groups also participate in the EU concerted action programmes Advanced Informatics in Medicine (AIM).3

Healthcare Providers / Hospitals / Medical professionals Hospitals and healthcare providers in general are crucial actors in the development of EPR’s. They provide the practices in which pilot studies are carried out. Furthermore, healthcare providers in the Netherlands administer their own budgets and decide autonomously on the purchase of software and hardware. Lokal or regional initiatives for ICT-developments are not dependent on national or European subsidy. Quite a large number of projects do get national or European subsidies however. Health Insurance Companies For insurance companies, the development of EPR is a main part of their overall policy. Insurance companies are important financers for the EPR-development and they are involved in a large number of pilot projects (on a co-operative national level they initiated the Health Card Project). Firms There are only a few small companies in the Netherlands, which have a long-term (10 years) involvement in health ICT and who are involved in R&D (mostly in pilot projects). Baan/Hiscom and SIG are important developers of hospital information systems. SMS-Cendata has been an important software-developer of GP information systems. SMS-Cendata were recently taken-over by another company and withdraw from health ICT shortly after the take-over. In general terms, there has been a measured amount of commercial activity in software development for the healthcare field. The systems that were developed for GP’s, for example, recently made the news because it was said the market was dominated by one particular company which owned 70% of the shares. While this turned out to be untrue, there is a general problem with software suppliers: the market is too small and too fragmented. Every hospital, in other words, wants to have its own adjusted system. Furthermore the health sector is notorious for being ‘arrogant’ and other IT-sectors are more profitable. For the GP systems, the problem at the moment is that few want to invest anymore in the next generation of systems. GP-systems are still in DOS. An interesting private EPR-initiative is Medlook, a medical internet company, founded by a pharmacy chain. This company provides internet-based EPR’s. 7000 people have such an EPR. Medlook works together with KPN-mobile. KPN-mobile provides free WAP-telephones for GP’s that use Medlook.

(Hybrid) Platforms / co-ordination and steering groups ZON / NWO-MW programme ICZ (ICT in Care) - In 1996, a large funding programme, ICT in Care, (Informatie- en Communicatietechnologie in de Zorg, ICZ) was started as a joint programme of the funding organisations ZON (Healt Research Netherlands) and NWO-MW (Dutch Science council). Its ‘principals’ are the ministries of Public Health, Welfare and Sports and of Education, Culture and Science. Central to ICZ is the ‘promotion of the use of information and communication technology in care in general, and of the EPR in particular’. The emphasis is on development work and applied research, but the programme also has room for basic research. Main components are: 1. Determination of the function of the EPR in care practice; 2. ‘Laboratory’ sites; and 3. Four foundational lines of investigation: terminology (standardisation of language), medical decision-making and protocols (standardisation of decisions), medical care-models (standardisation of care) and aggregation. Both technical RTD and legal and policy aspects have a place in the programme. For the implementation of the programme, Dfl. 15,5 million (7 million Euro) is available. After the first round in 1998, 35 parties were selected which were to form coalitions to work out project proposals. These include researchers in the fields of ‘general practitioner medicine’, health science, social medicine and medical IT, as well as small companies (in software and information management), centres for mental health, home care centres and hospitals. This programme - which currently is one of the most well-established research programme on this subject – is seen by many as one of the key players in the field. ZON thereby not only provides the

3 Franken, B. and L.J.S. Wever (eds.) (1995), Informatietechnologie in de zorg: feiten en opinies. The Hague: Ministry of Health, Welfare and Sports.

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funding for the programme, it also organises workshops, meetings and so on between the different project-leaders. IPZorg (ICT Platform Care) - An administrative platform, initiated by the ministry of health to further the use of ICT in Care. The platform represents all member organisations of healthcare providers as well as patient organisations, health insurance companies, hospital organisations, the ministry of health and the ministry of economic affairs. The platform was launched in May 1999 and attempts to become the overarching organisation that encompasses, integrates and aligns all ICT (especially EPR) initiatives in healthcare. So far, to most of our interviewees it is unclear what this platform really does. In reality it does not seem to play an important role yet. Recently (September 2000) IPZorg presented a ‘declaration of intent’. IPZorg aims at the development of operational national ICT-infrastructure in the healthcare sector. The EPR is the starting point to improve the efficiency and quality of care. IPZorg wants to secure the conditions under which a national EPR is possible. More specifically it wants the introduction of a national personal identification number, the Health Identification Number (ZIN, Zorg Identificatie Nummer) as well as a legal obligation for health professionals to use the number. To develop a standardized technical infrastructure IPZorg takes the Health Card Project (see below) as the starting point. For standardisation of data (both semantically and technically) IPZorg wants to co-operate with both NNI and CSIZ (the two recently signed a co-operation agreement). Furthermore IPZorg intends to make the model of reference that is being developed within the VIZI-project (see below) as the standard model of reference. Pilot projects to be adopted by IPZorg, have to adhere to this model. The ministry of health has reserved 220 million guilders (100 million euro’s) for 2000 and 2001 for ICT. Zorg Pas Groep (Health Card Group) - This initiative started in 1999. It aims at the development of a national health card that provides personal patient data and insurance data. Within a next phase it might be possible to use the same card for EPR’s. The imitative has had a troubled existence, although it was recently adopted by the ICT Platform Health.

OIZ, organisatie voor ICT in de Zorg (organisation for ICT in Care) - manager of the ZIIP Platform (Care ICT Industry Platform) and Informatie Leveranciers Zorg (ILZ, Information Suppliers Care). An industry initiative (e.g. HISCOM, Philips, TNO en KPN Telecom) to further standardisation. Platform VIZI (Virtual Integration Care Information) - In 1996 the WZI (werkgroep zorginhoudelijke informatiesering) of the OMS (Organised Medical Specialists) decided to develop an EPD for medical specialists / clinical doctors. This lead to the VIZI-project. VIZI takes a bottom-up development approach. It’s working on a reference model for the integration of existing applications within a national EPD. VIZI takes a similar approach as has been taken successfully in the late eighties for the development of a reference model for the HIS (General practitioners Information System). VIZI officially is an organisation of the OMS, the NVZ (Dutch Hospitals Association), the LHV (National Association of General Practitioners) and the dome associations NVOG, NVK, NVP, the NVVH and the CBO and SIG-Zorginformatie.4 However, the ministry of health has played an important role in the creation and support of VIZI. VIZI has a peculiar history. While VWS had originally initiated the ZON-programma, it was not content with either the content and speed of the activities and therefore, while side-stepping the ZON-commission, took the initiative in their own hands. People, like Van der Kam are negative about VIZI, Van der Kam thinks that VIZI will not be able to change medical specialists. Binding Rules There are two laws the WGBO (Law on medical treatment agreement) and the WPR (Privacy Law) that could play a role in the development of an EPD. However regulation currently is hardly mentioned as a relevant issue within this field. Only the RVZ mentions the Privacy Law explicitly as a barrier to the development of EPR. Others say that privacy law is not a barrier, because within projects there’s a pragmatic and ‘relaxed’ way of dealing with this law. Furtermore the ministry of health has always promoted self-regulation and self-organisation as much as possible. Recently though, the IPZorg has

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announced the intention to come to a legal obligation for all healthcare providers to use the Health Identification Number (ZIN). Future Oriented Co-ordination Activities (FOCA) Overview of FOCA Stimulation Programme ‘Volksgezondheid transparant’ (Public Health Transparent) (1992-1994) – The effect of this programme was that ICT came to prominence on the agenda of both politicians and healthcare providers. Before this programme, no one was willing to use standard software that was not tailored to healthcare practice and no one was willing to develop software packages for healthcare. The programme can be thought to have broken this cycle. However, there was little co-ordination and while many projects are financed by local and national government, the majority of projects died a sudden (or a slow) death when finances come to an end. There is a growing awareness of the complexity of social, technical and organisational issues within healthcare practices. Starting in the mid-nineties, a number of governmental bodies issued reports on the contribution of informatics to healthcare practices and the potential role of the EPD in particular. Organisations such as the WRR and the RVZ all propose different reasons to put the EPR on the political agenda. While some reports claim the EPR is a necessary tool for cost-reduction (WRR 1997), others put patient-oriented care and changing relations between professionals and patients at the centre of attention. The EPR is said to have the ability to contribute to the much longer strive for efficiency and cost-reduction within healthcare practices. Also, quality improvement is often said to be a prime aim of the development of EPR and other ICT applications within healthcare practices. Nonetheless, when read more closely, many reports and information brochures start from the straightforward assumption that innovation in the area of ICT must have a more significant place in healthcare. As De Haan (1999) notices, the development of EPR’s nearly always is referred to as a neutral technical objection (p.1). ‘Informatietechnologie in de zorg’ (Information technology in care) by the RVZ (Council for Health and Social Service) (1996) - The Minister of Health, who asked for ‘a widely supported long-term vision on the use of IT in care’ requested this report. The political decision to make a strategic choice for EPR had already been made (policy note, 27th February 1996). Motivation for this was, in part, the need to find better arrangements for handling cases in foreign countries.

Zwetsloot-Schonk, J.H.M. and P.F. de Vries Robbé (1997), Ontwikkelingsprincipes voor de Inrichting van de Informatievoorziening over de Curatieve Zorg, The Hague, WRR (W94). ‘Informatisering in de gezondheidszorg een toekomstverkenning’ (Computerisation in healthcare, a foresight study) by the WRR (Scientific Council for Government Policy), February 1997 - Since 1995, the WRR has been working on an advice to government for a ‘directive frame of reference’ on mid-term decisions for healthcare. Various developments were considered not least those in computerisation. Two studies were commissioned: one focusing on IT-support for macro decision making, the other mostly on IT and primary care. Both were published in 1997 as working documents. The first report discusses arrangements for the provision of aggregate information about curative care, in order to gain insight into the effectiveness and efficiency of care, and to underpin and evaluate the ministry’s policy concerning curative care. Three systematic registrations are found necessary: of diagnoses, of care activities and resources. The information must be comparable, and standards are suggested. Development of an EPR is clearly considered crucial (pp. 34, 35). The lack of a clear course and the fact that the interests of parties involved are often contradictory in the short term, are seen as threats to the development of arrangements for information provision about curative care (p.40). In the other report ‘Computerisation in healthcare: a foresight study’ – by a management consultancy –

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again the EPR is seen to play an important role, but also the use of ‘telematics’ is considered a condition for a re-structured healthcare. In addition, the development and implementation of evaluation tools for evidence-based medicine are recommended as means of quality control. Here too, the difference in aims of different actors in the healthcare system is emphasised as a complicating factor. ‘Volksgezondheid Toekomstverkenning’ (Public Health Foresight) by RIVM (National Institute for Public Health and Environment) (1997) - The report states that important improvements in the information provision for monitoring by government is possible, though in comparison with other countries the Netherlands has performed well. Technologiescan Transmurale zorg (technology foresight report on transmural care) (1998), The Hague, Senter. Based on reports of Willems and Van den Wildenberg, SWOKA - The report was commissioned by Senter, the executive agency of the Ministry of Economic Affairs, in 1997. It explores both public views and wishes, and opportunities for technological applications in transmural care. Transmural care is presently a focus of Dutch healthcare policy, partly because of healthcare cost reduction Technologies considered promising are mainly ICT. They include systems for data-sharing, the EPR and chipcards, on-line consultation of doctors by patients, video monitoring of patients, and multi-media information for patients and as additional education for care providers. In the ‘Transmural Care’ theme within the Senter ‘Technology and Society’ funding programme, subsidies are available for innovative projects by companies in these areas of ICT, as well as for re-designed products and adapted buildings. Workshops may be organised to inspire industrial activity and to bring interested parties in touch with each other.

ZON / NWO-MW programme ICZ (ICT in Care) (1996-2002). (See above and see below) Rathenau-Instituut (Technology Assessment Office), Project ‘Information, information technology and healthcare’ - The project encompassed two sub-projects: A study: “De nacht schreef rood: informatisering van zorgpraktijken” (December 1998) This study can be characterised as a foresight study about EHD (Electronic Health Dossier) and the changing practice, organisation and regulation of healthcare. Methods used were: Literature search; semi-structured interviews (34) with relevant actors and organisations; and participating observation in healthcare practices that use EHD’s. A workshop “Computerisation in Care: the Electronic Health Dossier” (October 1999) where participants from different constituencies explored three different EZD scenario’s during a role-play. The scenario’s were situated in 2010. August 2000, the Rathenau project is concluded with a so-called ‘bericht aan het parlement’ (Communication to the parliament). Main conclusion is that it is an illussion to think that there’ll be an EHD-system in 2010, which will enable every authorised user everywhere at anytime to ask for or to add medical data. The recommendation is given to start with modest ambitions that are directly linked to care practice needs.

Informal FOCA: ZON-programme ICZ The ZON-programme ICZ was set up in 1996 as a stimulation programme and not as a foresight programme. The way it actually functioned over the past few years however, means that it can be analysed as one of the most important FOCA within the field of EPR. To underline this statement, more needs to be said about what the ministry of health originally intended when it assigned the ICZ-programme to ZON; how the programme committee has been functioning; what the programme now looks like and how other actors have responded to the programme. In general ZON-programmes are aimed at innovative research that can be used in healthcare practice. ZON tries to link health research, health policy and health practice. In February 1996 the minister of health commissioned ZON to develop a programme for the “development and application of EPR’s that can be used jointly”. One of the tasks of the ICZ programme committee was to define the functionalities and conditions for the development of an EPR, such that research groups applying for funding, could accommodate their research activities in accordance with the programme. The ICZ programme committee was relatively big and heterogenous, with 11 members from different constituencies such as research, industry, insurers and patients. Opinions in the committee differed

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widely, which caused a major delay in defining the programme. The committee was roughly divided into two groups, one group preferring a more academic programme, the other group preferring a more applied programme. Furthermore the RVZ-proposal for an internet-like EPR was for many committee members too ambitious. One could say that both EPR-scenario’s (see above) were represented within the committee and were incommensurate with one another. Finally, the committee decided to choose a somewhat different route than normal. Instead of writing a clear and well-defined programme, they produced a procedure. They started with a call for interested parties. What they hoped for was to get enough ‘building blocks’ together, that were similar enough. They then wanted to pick the best candidates and give them funding. Coalitions between care providers, universities and software companies was reached in only one project. After 18 months, in October 1998, the programme committee disbanded. One was afraid that members would have too many preferences for projects of their own groups. The new committee is much smaller. Most members are chosen because of their managerial skills. There are no patients, no software-industry and only one researcher represented in the committee. As a result, projects such as the ‘Breekpunt project’ (see above) which are very different from what the ministry of health as well as the ICZ-programme secretary envisioned are being funded by the programme. To say that the ZON programme ICZ can be considered as important FOCA is not to suggest that alignment between different actors has been created or that priorities have been set. The two EPR-scenario’s didn’t really come closer to each other and the ministry of health is actually very much disappointed in what the programme has achieved so far. About the 4 founding research projects in the programme, Hasman said that an inaccurate illusion now exists that standardisation is not necessary. What did happen however, is that the ministry of health became much more aware of the fact that by self regulation alone, healthcare providers will not be able to develop a national integrated EPR. Over the past two years the ministry therefore has taken up a more explicit steering role and identified some tasks that were neglected by others, such as the development of a patient identification number. The platform ICZorg is meant to bring more alignment between different developments. The VIZI and Care Pass Project are being facilitated to make them leading projects that can set the standards for other projects. For the years 2000/2001 (of 2001/2) the ICT-budget is 220 million guilders. The budget of the ZON-ICZ programme was only 5.5 million guilders for 4 years. Whether or not the ministry of health will be able to get the EPR off the ground, remains to be seen. Though the ministry now invests quite a lot of money in ICT for healthcare, enrolment of healthcare practitioners is still important because major investments still have to come from hospitals and other healthcare providers. Recently Hasman and Tange, academic researchers from the University of Maastricht, argued that the ministry should adopt a third policy line to enrol the masses of healthcare providers. Their first and second policy lines (being research stimulation programmes such as ZON-ICZ and the facilitation of co-ordination and standardisation committees) speeded up the formation of a network of parties interested in the development of EPRs. This network is more and more able to steer the development and to enlarge their lead on the wider masses of healthcare practitioners. This poses the risk that we’ll end up with an EPR that is only of limited relevance for the bulk of end users. One of the reasons that the two EPR-scenarios didn’t come closer in the ZON-ICZ programme committee has to do with the timescale of the programme. The programme has a duration of only five years. For ZON it’s more important to have substantial results after five years and to be able to give new policy advices at that time, than to make useful contributions to a long-term development that can only be valued on a long-term (20 years) timescale. Berend Franken, ZON-secretary: “The world of ZON, is the world of policy. If there’s a policy problem, than that’s about the horizon. And if there’s no policy problem, than there’s probably no ZON programme, so no future.” However, academic researchers propagating a bottom-up, incremental EPR development take a long-term (20 years) future perspective.

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Impact of Foresight and FOCA Formal and informal FOCA and foresight activities have had a considerable influence on the EPR-network. Formal foresight activities, such as government reports that issued during the mid-nineties mostly had an indirect effect. The reports were used to legitimate innovation-stimulation policy. The pilot projects that were carried out in the early nineties in the ‘Volksgezondheid Transparant’ programme can be considered as informal FOCA that had important learning effects. These pilots resulted in a growing awareness of social, technical and organisational complexities. Governmental actors became aware that more steering was needed to align different local developments. The impact of the ZON ICZ-programme has been discussed above. The influence of Foresight, discussed so far is primarily an impact on governmental and intermediary actors. In contrast, the uptake of foresight and FOCA by (academic) researchers is quite limited.

Prof. De Vries-Robbe: “I’ve got the idea, that in many ways, my own train of thought is better developed than what’s in those reports.”

As far as De Vries Robbe is reading foresight reports, it is to assess what’s wrong and how to align different actors. Or for example to find that public money is shifting and that that might give new resource opportunities. Of course this is a considerable impact as well. Not one in which the report is passively taken up, but one in which the report is used to position the other actors and to act upon that in a strategic manner. Note however, that De Vries Robbe was a member of the first ZON committee on ICZ and therefore is not representative for all (academic) researchers. Some one like Moorman for example does not read foresight studies. Moorman: “I think we are too stubborn for that” Concluding Discussion: General Character of the Dutch EPR Configuration The Dutch EPR-configuration can be said to be relatively loose knit. ‘Versnippering’ and ‘eilandautomatisering’ (fragmentation and insular computerisation) are often used to characterize the field. Over the last five years many attempts have been made to align the different local and regional initiatives to make possible the development of a national EPR. This resulted in a wide variety of national platforms, steering and co-ordination groups. IPZorg is trying to become the overarching platform. Alignment is difficult though, because the users (both hospitals and medical professionals) have a big autonomy, different conflicting interests and are not necessarily convinced of the value of a national EPR. Because the market is so fragmented, with practically each hospital having it’s own adjusted system, soft-ware suppliers are very reluctant to invest in the development of ICT for care. The Dutch EPR-case very well illustrates the general analysis we make, which is summarised in the double bell curve. The utility of foresight and FOCA in a relatively loose-knit network is potentially big. FOCA/foresight by intermediary organisations in the mid-nineties established an EPR-network and set the wider agendas. The ZON ICZ-programme did not settle the differences of opinion, but made them more clear. The Ministry of Health now is aware of problematic issues and issues that are not dealt with by the field itself. Some sort of task division is now emerging which might eventually (though not necessarily) come together in a productive way. In other words an interorganisational strategy to realise an EPR is developing. On the other hand, the uptake and impact of foresight and FOCA by innovative actors in a relatively loose-knit network is small and problematic. Foresight and FOCA had little influence on (academic) researchers work. As government defined their role in the EPR-development not only as a regulator, but also as a steering and promoting actor, they do have good reasons to have foresight and FOCA, even though the uptake and impact of foresight and FOCA by other innovative actors is limited. Apart from the loose-knit character of the network, there’s another reason for this limited uptake and impact. Whether or not government’s expectations are realistic, remains to be seen. In their role as innovation-promoter expectations do not necessarily have to be realistic. They serve other purposes as well. In case of the EPR, governmental foresight as a way to align the development is sub-optimal, because of government’s own promoter role. In this context, it is not surprising that the Rathenau Institute, which

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is more an outsider to the development, came up with more modest expectations on the future of EPR. For innovative developments in which governmental actors have an important role as a promoter, independent technology assessment institutes can play an important role to organise foresight and FOCA that serves all actors interests and have potentially a bigger impact and uptake. Brief discussion of base data Interviews began with Van de Kam – an initiator of Breekpunt, one of the projects financed by ZON, directed towards a so-called ‘instap-EPD’. An initial interview with Flier (Ministry of Health proved to be particularly informative with regard to the ZON-programme “ICT in de Zorg”. It shows how difficult it is to create consensus on something like ICT that has such a strong network character (as opposed to gene-therapy) for which technological choice and path-dependencies are more crucial than stand-alone technologies. A planned interviewed with a representative from ICZ – the organisation directed towards standardisation in healthcare practices – was unfortunately cancelled last minute. Subsequently, we talked to Peter Moorman, an other initiator of the Breekpunt project, who works at the University of Rotterdam. Moorman’s vision on the EPR made clear that the role of academic research in this field is crucial and that academic researchers have a very different perspective to both ZON and the Ministry of Health. While ZON tries to align different initiatives and set-up a co-ordinated action, Moorman and his research group think that the most difficult part of EPR is not so much technology but the fact that specialist hardly use a computer. Physicians would only use any EPR if there is a good reason for them to change their routine and if they realise an EPR (or computer) has added value. To see whether other academics share the vision of the Rotterdam group and whether academic researchers offer a counter-force against the ambitious ZON-programme, we decided to talk to the other two major ‘medical informatics university departments’ (KUN & UM).. Also, given the importance of the ZON-programme and the role of academic researchers in the commission and the research, we felt the innovators within this area could at least be traced (or even be found) within these academic circles.

Interviewees Academic Researchers Peter Moorman (Medical Informatics, Erasmus Uni of Rotterdam) Prof. P. de Vries-Robbé (Medical Informatics, Uni of Nijmegen, member of the 1st ZON-committee ICZ) Prof. Dr. Ir. A. Hasman (Medical Informatics, Uni Maastricht, member of the 2nd ZON-commitee ICZ) Wout van der Kam (Isala kliniek Zwolle, Breekpunt project, a GP, now working on PhD) Regulation and Public Policy Berend Franken (ZON, co-ordinator of ‘ICT in Healthcare (ICZ)) Dr. Frank Flier (Ministry of Health, BIO & ICT, Policy Information & Research ICT) Drs. Henk Docter & Hans Bekius (Ministry of Economic Affairs, department Electronics, Services and Information Policy. Cynthia Creveld – (management trainee CSIZ, Co-ordination point Standardisation of Information Service in Care)

Workshops & Symposia Rathenau Workshop ‘Computerisation in Healthcare: The Electronic Healthcare Record’, 6 & 7 October, 1999. Symposium ‘GP, clinicians and the Electronic Medical Record’, 8 October, 1999, Ede. Secondary Literature (See reference section below) References Advies Structuur schets informatievoorziening zorg. Nationale Raad voor de Volksgezondheid.

Zoetermeer, 1990; nr. 25

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Atkinson, C.J. & V.J. Peel (1998) ‘Tranforming a hospital through Growing, not Building an Electronic Patient Record System’, Meth Inform Med., 37:285-293.

Berg, Marc (1995), Rationalizing Medical Work. Decision Support Techniques and Medical Practices, Maastricht, academisch proefschrift.

Berg, Marc (1996) ‘Practices of reading and writing: the constitutive role of the patient record in medical work, Sociology of Health and Illness, vol 18, no.4, p.499-524.

Berg, Marc; Goorman, Els; Hartering, Paul & Saskia Plass (1998) De Nacht Schreef Rood informatisering van zorgpraktijken, Rathenau Instituut, Den Haag.

Coordinatie van de standaardisatie. Advies over coordinatie van standaardisatie van informatievoorziening. Nationale Raad voor de Volksgezondheid. Zoetermeer, 1994; nr.12.

Edgar P.A.W. et al (1999) ‘Virtuele integratie van zorginformatie’, Medisch Contact, februari, 54, nr.6, p.196-198.

Haan, J.V. de Haan (1999) Het electronisch patientendossier, werk, drijfveren en zorgen van medici, verpleegkundigen en managers, afstudeerscriptie EUR.

Hasman, A. & H.J. Tange, (2000) De slag om het elektronisch patientendossier. Een driesporenbeleid voor ICT in het zorgproces, HMF, Tijdschrift voor toekomstverkenning, strategieontwikkeling en innovatie, 6 (3), p. 42-44.

Infomatie op maat. Interimadvies informatiebehoefte rijksoverheid. Nationale Raad voor de Volksgezondheid. Zoetermeer, 1993: nr. 27.

Informatie op maat II. Advies over de structurele informatiebehoefte van de rijksoverheid. Nationale Raad voor de Volksgezondheid. Zoetermeer, 1994; nr. 19

Informatiebeleid in een veranderend stelsel van zorg. Tweede Kamer der Staten-Generaal, vergaderjaar 1991-1992; 22 540, nrs 1-2.

Informatietechnologie in de zorg. Deel 1: Advies. Deel 2: Achtergronden. Advies uitgebracht door de voorlopige Raad voor de Volksgezondheid en Zorggerelateerde dienstverlening aan het minister van Volksgezondheid en Zorggerelateerde dienstverlening aan de minister van Volksgezondheid, Welzijn en Sport. Zoetermeer, oktober 1996.

Informatietechnologie in de zorg: feiten en opinies. Uitgave van het Ministerie van Volksgezondheid, Welzijn en Sport. Rijswijk, 14 november 1995.

Informatisering in de gezondheidszorg een toekomstverkenning, Wetenschappelijke Raad voor het Regeringsbeleid, Den Haag, Februari 1997.

Intentieverklaring van het ICT Platform in de Zorg. IPZ 53, Leidschendam, 11 september 2000. Rathenau Instituut, (1999) Proefritten en prototypes, verslag van een workshop over Elecrtronisch

ZorgDossiers, Rathenau Instituut, Den Haag. Rathenau Instituut, (2000) De zorg centraal, Bericht aan het parlement, Rathenau Instituut, Den Haag. Visser, F. J. (1997) ‘Een elektronisch medisch dossier voor specialisten: de hoogste tijd’, Medische

Contact, 52, 10 oktober. P.1284

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Telemedicine in the Netherlands A Case Study

Introduction If one looks at the foresight studies in the mid nineties that were commissioned by the Ministry of Education and Sciences and Ministry of Economic Affairs respectively with the aim to set research and policy priorities for science and technology policy, telemedicine does not occur as a priority. In the report of the Foresight Steering Committee on health it is mentioned as just one option for improving healthcare, juxtaposed by a series of others – but certainly not a prominent one. In the reports of the Technology Radar, telemedicine is mentioned as one application of telematics, but again not prominantly. More recently, in a series of foresight documents and publications, telemedicine figured much more prominently, and as a promising and to some extent also inevitable development for the Dutch healthcare system. With related concepts such as teleconsulting, telecare, telediagnostics, tele-home care, teletherapy documents, telemedicine is configured as “the future”. Even one of the main Dutch medical professional journals, Medisch Contact, recently devoted a jubilee special to telemedicine. Do we have a typical case here, of co-development of foresight activities, expectations and innovation? Our scoping interviews suggest a different picture. A manager of a research programme for ICT in healthcare responded on questions on telemedicine:

BF: [Telemedicine], in the Netherlands, we are not very active on that, because it such compact country. There is always a hospital or something nearby. That is also why we have so much home-childbirths. That can be done easily. In the UK, there are quite a lot of remote areas. Take the Scottish Highlands, these are completely out-of-the-way. The same for Norway – all those fjords. And Greece with all the islands. That are typical the areas were you can find telemedical applications. AL: But we have some experiments, don’t we? BF Yes, but only for very rare knowledge. The example I know about is rehabilitation. The Free University Academic Hospital and the Roessingh. […] But that is an exception indeed in the Netherlands. There are vague stories that it will develop in the Netherlands as well, but I don’t see it. Only some social monitoring and alarm. That kind of things.

A search for organisations that are really involved in telemedicine innovation at the local level, indeed confirmed that there are only a few initiatives.5 Of these, those at the Roessingh Research and Development are the most explicit ones. Part of the contrast is because in some of the publications the development of electronic patient dossiers, EPD, is considered as telemedicine. Within the FORMAKIN project we consider EPD as a separate case study. But partly, the contrast is real and reflects an interesting pattern of foresight or foresight oriented studies at the national level with hardly any local innovation activities.6 This pattern has consequences for the effectiveness of such studies, but also poses questions for the role of foresight studies. To understand this specific pattern, we have done three things for this case study: Examined closely the methods of the foresight-oriented studies in which telemedicine does appear as a promise, to see were the expectations are based on. We analysed four foresight studies:

• A scenario study done by the Telematic Research Centre as part of a series of studies on telematic applications.

• A technology scan of the Technology & Society Programme of the Ministry of Economic Affairs.

5 See also studies bij the European Health Telematics Observatory, which conclude that the Netherlands are ahead in EPD development but not in telematics. (www.ehto.xxx) 6 In a recent study on ICT application in the Netherlands it was concluded that “[t]he health sector is one of the sectors in which investments in IT are very low. Also the contribution of IT expenditures to the added value of the health sector is low. […] The growth of IT expenditures is less then in any other sector. Catching up with other sectors might result in improvement of services and efficiency. But ICT will remain an aid to and certainly not a core competency. The low awareness of ICT possibilities in the health sector makes it unlikely that other sectors will be soon catches up.” IDC Benelux, ICT en Nederland. Van technologie tot toepassing, February 2000.

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• A study by the Raad voor Volksgezondheid en Zorg (Advisory Council for Public Health and Health Care) on the relation between Internet and healthcare

• A study of the Electronic Highway Platform Netherlands on telemedicine • Examined how telemedicine is constructed as a promise in these case studies • Analysed a local pilot study, ‘tele-consultation for rehabilitation’, at Roessingh Research and

Development, an innovative centre for rehabilitation in Enschede, and juxtaposed the dynamics of these innovation activities with the conclusions of the analysis of foresight.7

Configurations To understand the dynamics of telemedicine in relation to the foresight oriented co-ordination activities (FOCA) we have to distinguish at least three configurations, or sub-configurations. The first one is the configuration related to the foresight studies commissioned by the Ministry of Economic Affairs and organisations. This configuration had co-developed with the policy for promoting ICT in Dutch society and especially government led initiatives to develop applications for the electronic highway. The Ministry of Economic Affairs has a central position in this configuration, being responsible for technology policy. Related to this Ministry is SENTER, the technology policy agency which is responsible for managing technology policy instruments, like the Technology and Society Programme. Within this programme, technologies are stimulated that can contribute to societal issues, including healthcare related ones. Part of the configuration is also the Electronic-highway Platform Netherlands (EPN), a “future-oriented” collaboration between industries, societal organisations, and government with the objective to facilitate the introduction of electronic services. The membership of EPN typically reveals the underlying network of organisations involved in the promotion of electronic services: ICT companies, consultancy firms and software companies. Dependencies within this network are low, but actors are bound into the shared interest in developing electronic services. The configuration of actors in which telemedicine should be developed and applied is the Dutch public health sector, including all the complex relationships between hospitals, paramedical health centres, government bodies, specialists, GP’s etc. These relationships are very complex and mutual dependencies are strong, although some actors have, of course, a more autonomous position than others. Clearly, the intended direct users of telemedicine, the medical practitioners enjoy a relatively large professional autonomy and have a high status within the professional hierarchy. Governmental activities are focused on (self-)regulation and price-control. To mediate relations with the health sector, there are a number of advisory bodies, platforms, institutionalised consultations and the like, including the Advisory Council for Public Health and Health Care. Indicative of the sector and its relationship with the future, is the title of a recent study on the future of the Dutch health sector “the trends, the tradition, and the turbulence: a turbulence analysis of the Dutch health sector.” The author identifies eight trends in healthcare, which in interaction with the traditional structures of the sector, will result in turbulence with unexpected outcomes.8 Among these trends are changing roles of the government, more room for commercial activities, new roles for medical professionals and changes in the position of consumers. Although ICT is mentioned, it is not conceived as a driving force behind the changes, but for the change in the consumers’ position. The expectation, also voiced in the study by the Advisory Council for Health, is that through the use of Internet patients will improve their own knowledge about diseases and possible therapies, and better be able to choose from the health practitioners. The third (sub)configuration of relevance for this case study is that around the pilot study on teleconsultation. The configuration is indicative for the larger configurations and include engineers of the rehabilitation centre Het Roessingh, ICT companies, the University of Twente and Telematic Research Institute, physiotherapists at different places in the Twente region, as well as some specialists of the local hospital in Enschede. Relationships between health practitioners are typical professional relationships characterised by acknowledgement of expertise and autonomy and by consultation about difficult patients. In this case, these consultations are somewhat formalised in the

7 We like to acknowledge work of our colleagues in Twente on telemedicine, esp. Marta Kirejzcyk and Tijmen Keesmaat, which we have made use of in this documents. 8 Pieter Vos, De trend, de traditie en de turbulentie: turbulentie analyse Nederlandse gezondheidszorg, Zoetermeer: Raad voor Volksgezondheid en Zorg, publicatienummer 99/08, November 1999.

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monthly meetings. Organisationally related through the rehabilitation centre Het Roessingh, which functions as a nexus, is the network of engineers and ICT firms working on the material conditions for simultaneously exchanging patient movies and related measurement data, and allow for specialist interaction. This is a network of engineers which include technicians from Het Roessingh, from the Telematic Research Centre at the University of Twente campus, and interested ICT companies. Relations within this network have developed from pre-competitive collaborations towards more formal contracts. Telemedicine links at the national level two different configurations. One around technology policy and ICT stimulation, of which the actors are not so much bound by formal rules but by a shared interest and thus by an expectation that actors are willing to participate in joint activities. Resource dependencies here are low, but relationships are rather intensive and some of the actors like the Ministry and the agency for technology policy have a formal role in the network. It is typically the kind of network in which foresight is likely to emerge as when one or more network members take up responsibility for network management. The other one, around health policy, is much more tight and closed, with long standing relationships, high resource dependencies, strong binding rules and strong perceptions of formal relationships and roles. This is the kind of network in which one will not find much foresight, but a focus on managing existing relationships and uncertainties. Table xx summarises the characteristics of the two subconfigurations and gives a score on each characteristic. The foresight studies and the nature of expectations Telemedicine in general can be described as the use of information and telecommunication technologies to provide medical services. That is a broad definition that would include the any telephone consultation between two health practitioners as a telemedicine service. Despite professional autonomies, there is little innovation in such an event and little impact on current healthcare practice. Certainly, the attractiveness of telemedicine considerable, although the diversity of promises and practices might obstruct the formulation of a strict definition that delineates new ICT related health services from mundane telephone conversations. In this section we will look at a more detailed way, how telemedicine is constructed in the four FOCAs. ICT stimulation configuration Health configuration Description Score Description Score Formality of the set of actors

Some actors have a formal role to maintain the network.

Medium Actors are legally bound to the configuration

High

Binding rules Binding rules are low, but there is strong shared interest in ICT stimulation. Overlapping memberships in committees and participation in activities

Medium Decision making rules are explicit and strongly determine relationships between actors.

High

Resource dependencies Actors have little formal resource relationships, but may collaborate in temporary pilots, studies etc.

Low Funding of health activities is regulated by the government

High

Durability of relationships

Relationships between organizations with formal positions are enduring, but other ones are in general flexible. The timing of ICT development implies that existing relationships will be maintained for quite a time

Medium Relationships have institutionalized over a long time. Positions of actors in configuration have matured as well

High

Scenario study Telematica In the early nineties the Ministry of Economic Affairs initiated a series of “Leading Telematica Projects”, in order to stimulate the development of telematic services in the Netherlands. Integral to this programme, which at a policy level was itself part of a cluster of initiatives to promote the Netherlands as a fast country on the ‘Electronic Highway’, a series of studies were done to identify conditions for the introduction of large-scale telematic technologies. These studies included a number of scenario studies for different aspects of (public) sector activity, including the healthcare. The Telematic Research Centre conducted the scenario study on the health sector in 1994-1995. The study was done according to the usual scenario methodologies, but mainly based on existing documents about the structure of and trends in the Dutch health sector. Expertise on the health sector came from one expert that functioned as an external reviewer. The Telematic Research Centre

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published results in 1995. There were no additional scenario workshops. Within this study, several possible applications of the telematics, the combined use of telecommunication and information technologies, are mentioned, including Electronic Document, smartcards for patients, electronic patient dossier and telemedicine. Telemedicine is defined as “a collection of technologies that support examination, diagnosis, therapy and monitoring of patients at a distance.” Main questions, the reports says, are related to technological issues, to the costs-benefits balance and to privacy and liability. But, “from experiments it can be concluded that the introduction of telemedicine surely can have large benefits. These are related to fastening the dissemination of new knowledge and expertise, effective treatment of patients and saving of travel costs of patients and doctors.” Applications are expected in telemedicine in isolated areas, for elderly people, handicapped and the chronically ill. But when looking closely at the scenarios (see box for short summary), it appears that telemedicine is not considered as the most prominent option. The main developments are expected in the improvement of existing communications within the health sector, not setting up new services. Although the promise of telemedicine exists, it is a weak one. Technology Scan transmural healthcare In many studies on developments in the health sector it is expected that basic healthcare processes will be partly moved out of the hospital, towards other places: home, care centres etc. As a result, health services that link hospital services to home-bound patients have to be developed or intensified. These forms of external or “transmural” (cf. intra-mural) healthcare could profit from developments in information and communication technologies and the specific service has been selected for the Technology and Society programme of the Ministry of Economic Affairs as a focus area. Aim of the Technology and Society programme is to stimulate technologies that are likely to contribute to important societal issues like ageing and improve the possibilities to deal with societal problems like crime. In 1997, the Ministry of Economic Affairs commissioned a consultancy firm and a small research institute on consumer issues to do a foresight study on technologies for transmural healthcare. The study was done in two phases. In the first phase GP’s, specialists, representatives from patient societies, health insurance companies and health organisations were interviewed about possible technologies for transmural healthcare. The interviews were complemented by desk research. The result was a list of new technologies that could possibly improve transmural healthcare for five categories of patients. In the second phase, panels with patients and professionals were asked about these technologies in several rounds. In the end nine promising technologies were selected, within three broader themes. The selected technologies and themes were used as reference for selecting project proposals.

It is interesting to note that among the first lists of technologies, some telemedicine applications rank quite high. An example is the virtual health centre in which health practitioners from one region can

Scenario 1: The doctor’s computer “Increasingly, telematic services support the healthcare sector. … General Practitioners receive and use automatically electronic lab results, hospital admissions etc. The kind of applications and the number of users is still increasing.

Telemedicine does not really start off. One problem is that without seeing the patient specialists consider the quality of digital representations as insufficient to make reliable diagnoses. In addition, juridicial responsibilities are unclear. Physicians are reluctant to be an ‘extension’ of the apparatus and feel that it reduces their status.

Although consumers appreciate some possibilities, they also find it difficult to replace the direct patient-doctor interaction by advanced and impersonal information systems.

Scenario 2: The patient’s dossier. “Telematics are principally used to support and optimise the primary processes of patient care. The result is an integration of different functions of the care process and a new approach to healthcare with multidisciplinary team of GP’s, specialists and nurses. At the centre core of this process is the EPD, which can be accessed at any place.”

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contact and consult each other and can find the latest news and protocols on specific diseases. Another one is the virtual outpatient clinic, were health practitioners with different backgrounds (e.g. GP’s, psychologists, anaesthetist, home nurse etc) meet around a patient experiencing chronic pain (and their dossier) and in which diagnostic results and other data are integrated to improve the treatment. The construction of telemedicine as a solution in the first phase is interesting. On the one hand, the study lists “what is going on”. This list consists of the perceived needs of patients and professionals for better communication, better information, more healthcare, and less mobility. This list is complemented by a list of promising technologies that satisfy need. In the second round, the technologies are selected according to the needs of patients and practitioners. Instead of taking the perceived needs of patients and professionals as a reference, these actors are asked what they want. One result is that the more visionary telemedicine applications are ranked considerably lower than those technologies that do not imply major organisational changes but simply optimise current practices. Expert meeting Electronic Highway Platform Netherlands

“The funding and the rigid organisational structures of Dutch healthcare reinforce the sectors technological backlog. According to the participants of the round table “Telemedicine” of EPN , within a few years the Dutch healthcare sector will be washed over by high technological health organisations from abroad. Dutch healthcare organisations will not be able to compete, if substantial reorganisation will not be effectuated.” (EPN Telemedicine dossier p.1)

From the introduction to the conclusions of the expert meeting on telemedicine, organised by the Electronic Highway Platform Netherlands (EPN) early 2000, it is clear that within this exercise that telemedicine is positioned quite differently than in the other studies. Participants at the expert meeting were from members of EPN (ICT infrastructure firms and service industry), politics. They were informed on telemedicine by two experts from the health sector. The dossier is available, as a “small contribution to the discussion” and in its conclusion it calls for a task force which will do a more detailed foresight of possibilities for telemedicine in the Netherlands and develop a pro-active policy. It is interesting to see how telemedicine is positioned, not just as an option, but “an inevitable development”. It is argued that telemedicine is still in its infancy, but it is clear that the potentials are high and the developments abroad are accelerating, because of fast developments in health technology and ICT. Telemedicine is also seen as a solution to problems which would not otherwise have been seen: because of developments elsewhere patients get dissatisfied with quality of healthcare in the Netherlands, and healthcare organisation from abroad begin to enter the Dutch health “market”. It is interesting to note that although the discourse differs from earlier expectations of telemedicine, it is a familiar one in technology policy: technological developments might leave the Netherlands lagging behind, especially if policy makers, industry and research sector do not recognise the options. Therefore, a pro-active policy is needed to raise “Medical Technology Awareness” within the health sector. ICT investments have to be increased, funding structures adapted in order to enable funding of telemedicine applications and organisations should be stimulated to implement telemedicine in order to anticipate future frictions in patient-doctor relationships, employment policies and quality of healthcare. Patient and Internet advisory study The fourth study on telemedicine we looked at is a prospective advisory study by the Advisory Council for Public Health and Health Care on the relation between Patients and the Internet. The council had been asked by the Ministry of Public Health to advise on this topic. Increasingly, patients use the Internet to get and exchange information about health, sickness and healthcare. It is estimated that there are more then 100.000 web sites related to these issues and thousands of mailing lists and discussion groups on health related concerns. The direct reason for the advice, however, was that the Health Inspection was confronted with the possibility of patients buying medicines through the internet, that are sold in the Netherlands only ‘on prescription’. The typical question the health sector is confronted with is how future developments can be regulated in order to accentuate the positive and eliminate the negative.

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The study discusses the issue by focussing on opportunities and threats. Among the opportunities is the improvement of the patients’ information position and therefore their position in interaction with health professionals, the possibility to communicate with other patients and new possibilities for prevention related information. Within the report there is a figure in which the opportunities calculate two main impacts “patient empowerment” and “ new partnerships between patient and health professional”. These two will result in “tailor-made healthcare”, “better self-management of diseases and handicaps” and “prevention of health damage”. Among the threats are the risk that information is out of date or simply wrong, the risk that incorrect advice is given, the possibility for patients to buy drugs without proper prescriptions, the space internet creates for unethical health related practices, such as commercial trade of transplants etc. Also the threats are schematically related to impacts and effects. The possible impacts of the threats the report foresees are “wrong decisions of patients”, “direct health damages”, and “other material and immaterial damages”. The effect will be health risks, a reduction of quality of life, higher costs and ineffective healthcare. The document hardly tries to assess the future developments systematically, but is very much based on current situations and on studies on the use of health web sites, which are more or less treated as indications for ongoing developments: without regulation the growth of information the opportunities and threats are developing in a linear way. With regulation – esp. improving access to Internet and development certified web sites – the threats cannot be eliminated, but at least limited.

Innovation Management Innovation management in relation to telemedicine is almost absent, but for some pilot studies. Telemedicine develops within niches where individual entrepreneurial researchers, engineers and medical specialists develop applications for such things as tele-consultation, tele-surgery, tele-dermatology. For this case study we specifically looked at a teleconsultation project for child rehabilitation, were we can see how the repertoire of telemedicine at cosmopolitan levels reflect upon the local level dynamics. Teleconsultation for rehabilitation “Het Roesingh” is an innovative rehabilitation centre with its own R&D department, which closely co-operates with the University of Twente and the Hospital. In 1997 the R&D department started a teleconsultation project in collaboration with the information technology department of the University of Twente, the Academic Hospital of the Free University of Amsterdam, the telematics research centre, and two telecommunication firms. The project was subsidised by the Ministry of Economic Affairs. After this pilot the idea emerged to start within the region a teleconsultation for child-rehabilitation, facilitating communications within the existing collaboration of Het Roessing, the child-physiotherapists within the region, and the medical specialists of the hospital. At the start of the project a constructive technology assessment was initiated, including an analysis of the future orientation of actors and technologies involved in the new pilot. In this section we use that CTA study to compare and contrast expectations in this micro configuration with those at the macro level. The micro-configuration of actors involved in the project on teleconsultation for child-rehabilitation reflects the macro configurations described above. On the one hand there is a group of health actors including the health specialists and child physiotherapists of the hospital, Het Roessingh and those with a private physiotherapy practice. These are seen as the users of the teleconsultation technology, developed by the Roessing R&D department, in collaboration with a local internet technology firm, and drawing on expertise developed in the first pilot. Het Roessing is a nexus within the configuration, connecting not only organisationally the engineers and the health practitioners, but also mediating communications between the two. It is interesting to look at the perceptions and expectations of those at Het Roessingh involved in the development of the technology. Their perceptions are related to the general development of the health sector to the concrete possibilities of this specific project. In the first instance telemedicine is seen as an innovative development that “ can be used to organise the healthcare more effectively”. Although it is recognised that current health practices are not really in need of such technologies, it is expected that because of demographic developments, new ways of organising healthcare, increasing emphasis on transmural healthcare will be needed. For Het Roessingh management, the project is an example

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of “a technology for functional management of specific patient groups”. Such systems would make healthcare more patient-friendly and improve the position of Het Roessingh in the healthcare networks. More basically, the project is seen as “a system to communicatie between the physiotherapists in the region, at Het Roessingh, and within the hospital, the rehabilation specialists at Het Roessingh and medical specialists at the hospital”. If one would elaborate these expectations, and within interviews the actors were asked to do so, one can find different implicit scenarios as well as different translations within the scenarios. The scenarios range from telemedicine as a integral part of the future (organisation of) healthcare in the Netherlands, to a technology for improving healthcare practices of the whole rehabilitation centre, to a technology that might improve some healthcare practices. In the first place, translations are made to connect wider macro developments with the specific project. Teleconsultation becomes part of the management of broader changes in the health sector. In the second scenario, teleconsultation is very much linked to the future of Het Roessingh, while in the third scenario, the project is translated into the current health practices of physiotherapy. The latter translation is also made within the perceptions and expectations of the health practitioners within the network. But clearly, there expectations are much more uncertain and less far reaching as those of the ‘developers’. They consider it as an add-on to existing practices. “A good idea if you need expertise at only available at a large distance.” From the interviews it is clear that the health practitioners collaborate, but with clear scepticism. There perception of the project is much more connected to current relationships with colleagues within the region, than with ideas on the future of healthcare and technology, or of telematics. Unconnected to this macro development, the idea of teleconsultation has lost much of the appeal that the developers attach to it. Conclusions of case study Every foresight tells us something about the perception of present situations. For telemedicine, several references exist to present its future. First there are the enormous developments in ICT, which facilitates change in the services of many sectors. The translation is then a simple one: if ICT can introduce and innovate so many services, why should it not innovate healthcare. Telemedicine is then a logical option within technology foresights. Within the context where ICT developments are considered as inevitable, and technology in general is discussed in terms of national competition, telemedicine hardens into an inevitable option and an external threat at the same time. In other words, the script then is clear: government has to act to enforce the introduction of telemedicine… or else! But surely, in the terms of overall dynamics, this position voiced in the EPN report is an exception to the general picture. The general map of expectations and related issues is much more subtle. There is awareness of technological possibility, as the scenario analysis makes clear. In this analysis telemedicine is part of telematics, but put in context of healthcare. The promise of telematics is still visible, but telemedicine is pushed away by other ICT applications and the Electronic Patient Dossier especially. In the Technology and Society study something similar happens. In that study telemedicine gets connected with societal trends like ageing, and needs in healthcare for new forms of patient-practitioner relationships. However, soon it is confronted with the current needs within the health sector and of patients and the option loses ground when compared to other priorities. When put in the context of the health sector, there are two translations made. One is that urgency is reduced. Second is that, in addition to stimulation, regulation becomes an overarching concern. This is clearly the case in the fourth foca we looked at, which not only related a specific form of telemedicine to threats and opportunities, but also translated into the clear script of the current configuration: the government had to ensure that the fruits could be picked and that the harms were reduced. This general map of the expectations is very much reflected within the innovation project we analysed and examined. We can see at this local level that the developers make use of viable parts of the repertoire developed through foresight studies: telemedicine is an option for the better organisation of healthcare. Although the need for good organisation of healthcare in general might not be disputed by the other actors, it does not link to their own perception of the current situation. On the contrary, one of the reasons to select child rehabilitation as an area for a telemedicine pilot is because of the good working relationships that existed already. The consequence is that the pilot develops within a niche, where the usefulness of the technology is doubted by those that are seen as the principal users.

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In conclusion, we see a double configuration, of which the two parts are loosely connected and somewhat drawn together by the idea of telemedicine. The one configuration of ICT typically is located at the right hand of the centre at the bell curve, were foresight is seen as a useful tool for maintaining and improving inter-organisational strategies and link up with health actors. But the strong configuration of healthcare actors, located at the very left side of the bell curve where foresight is unlikely to have any impact, is not very susceptible for the new promise, and more focussed on current needs. The two configurations become linked at the local level, where innovation dynamics confirm the hypothesis that shifting a configuration to a position where relationships are more open and foresight is more effective, requires considerable effort.

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Genetic Diagnostics in the Netherlands A Case Study

Introduction The case of genetic diagnostics in the Netherlands is particularly interesting for the FORMAKIN project since it charts the recent history of a field wich is in the process of moving from a closed-tight configuration to one in which there is considerably more flexibility and indeterminacy than before. In the course of this process, FOCA emerges as a key negotiating ground within which both new and old actors seek to reposition one another, to secure new points of leverage whilst attempting to maintain control over more ones. Configurations: Genetic Diagnostics in the Netherlands Scientific and Technological Development The genetic diagnostics field for mono-genetic diseases can be characterised as relatively mature. In particular, the genetic diagnostics field for multi-factorial diseases, the focus of this case, might be described as having passed through its early (immature) phase of development. This is indicated by the fact that what were once over-ambitious promises have now become norrower. At the same time, there is now stronger consensus around the limitations and difficulties that surround diagnostics in the context of multi-factorial disease. Of course, the field cannot be regarded as reflecting the same degree of maturity to be found in monogenetic diagnostics. None of the interviewees had a clear vision on what the development will look like within 5 or 10 years from now indicating a high degree of instability. Both the timing and scope of developments are very uncertain, because of faster and cheaper high-througput screening technologies9 and on the availlability of (preventive) treatment options for people having a genetic predisposition.10 Furthermore, the percentage of people having an intermediairy risk is still very uncertain (interview Van ‘t Veer). Despite these uncertainties, the sense of promise and expectation are widely shared. Alignment is created by the idea that the pace of change is strong, potential development opportunities are sizeable and, as a consequence, incentives for actors to make early investments and become involved are compelling. The Pharmaceutical sector has dedicated considerable investment within pharmacogenetic research and activity as well as making efforts to enrol wider actors. Commercial opportunities remain elusive because of long product cycles but also because of acute uncertainty about area. Hence, the actual product range itself is still very limited. Organon Teknika Inc. (see below) has been working on non-human DNA-diagnostics for 20 years now and follow the new developments with great interest, but think it’s still too early for them to participate. On the level of technology development (as opposed to the development of specific tests) maturation and stabilisation is somewhat more established. There is a clear sense of an emergent product design, being high-troughput screening technology11 on the one hand and Point-Of-Care testing12 on the other. Medium-throughput screening technologies (Elisa-blots and so) are thought to be the technologies of the past. Quality meaures within the clinical chemical laboratories, standards governing the conduct of genetic association research and European quality standards for diagnostic tests are still in an early stage of formulation. In general, the barriers to development, mentioned by respondents, can be characterised as societal barriers. Ethical approval and co-operation with clinicians for clinical trials is problematic for pharmaceutical industry. On a longer timescale, once products get to market, public acceptance in general might become a barrier for development, according to pharmaceutical respondents. Clinical researchers are far more positive about the public acceptance of genetic diagnostics.

9 None of the interviewees questions the fact that this will sooner or later be the case. 10 None of the interviewees thinks genetic diagnostics is of any use when there are no treatment options aivalable. 11 Such as micro-array technology for use in big research institutes. High-throughput screening technologies are able to test a large number of variables in very short timeperiods with strict formats. 12 Such as dipsticks for easy and monkey-proof diagnosis of one particular mutation for use in small regional hospitals and primary care.

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Financing by health insurance companies might also be a future barrier to the widespread application of genetic diagnostics. Most clinical researchers assume that preventive medicine will be cost-effective, but government officials, intermediairy organisations (e.g. AWT, Advisory Council for Science and Technology Policy, see below) and health insurance companies question this. The degree of disturbance for the organisation of healthcare is perceived differently by different interviewees. Opinions differ on the question, whether or not (and on what timescale) the character of healthcare practice will change into preventive medicine. In general, clinical researchers are quite positive that that will happen. Intermediairy actors, such as the AWT are less sure about it. They question cost-effectiveness. Prof. Houthoff (Kreatech Diagnostics) thought that both society and the medical field are too conservative to allow considerable disturbance arguing that test practice will change in the next 5 years, but medical practice certainly not. New developments will be additional, and they will not replace established practices. Others question whether healthy at-risk people will be prepared to change their lifestyle or to take preventive medicines. There’s general agreement that pharmaceutical companies and the diagnostic industry are becoming the most important innovative players in the field. Whether or not clinical geneticists will play an important role in the development of DNA-diagnostics for multi-factorial diseases is uncertain. Clinical geneticists expressed the view that in the future genetic diagnostic research will still be concentrated in large research centers and academic hospitals. Clinical genetics will develop as a separate specialism in academic hospitals. Others (such as Van Weemen, Organon Teknika) think that clinical geneticists will not play an important role in the future of genetic diagnostics. The Rathenau Study on predictive medicine (Horstman, De Vries et al., 1999) stating that predictive medicine is different in character from symptom-related medicine thus rendering the principle of autonomy inadequate, has been critically questioned by large groups of medical professionals.

Innovation Management In general the key factor of good innovation management in this field is not so much in practices to assess relevant dimensions but in practices to influence or act upon these relevant dimensions. There is general consensus that the field is very transparent, so all actors have the same information. In such situations doing market research does not count as good innovation management, because most actors do the same market research offering little competitive advance. Practices to influence or act upon the relevant factors depend on creating space for strategic action. Historically, clinical geneticists have had managed to secure a considerably powerful strategic position through the monopolisation of services. They still have quite a lot of influence on policy issues, but in their everyday research practice, they make decisions on a ad-hoc basis often in response to extraneous considerations to clinical decision-making. Whether or not a certain test will be developed depends on clinical relevance (therapy options), availability of patient data and their specific knowledge and technology base. Long-term assessments of clinical demand are very hard to predict. Linear extrapolating of past growth is being used for decisionmaking on newly built laboratories (interview Bakker). Small spin-off companies, important innovators, are typically too small, to be able to influence the relevant dimensions. Their main innovation management strategy is to search for niches and to follow their own vision. Future market trend studies have a peculiar relevance for them, creating information on potentially distinctive product areas. In contrast, larger pharmaceutical companies are well enough resourced to actively influence broader societal developments and decisionmaking. Companies, such as Glaxo Wellcome are not only actively participating in and facilitating public debates on genetic research. In the immediate term, the Dutch medical-ethical climate is key for them to be able to do clinical trials. On a longer timescale, participating in and facilitating public debate is directed at improving the public image of both the companies and potential diagnostic products. Pharmaceutical companies, as well as medical biotech firms, are very keen not to be associated with the agricultural biotech firms. When Nefarma, the association of pharmaceutical companies, decided to become a member of NIABA, the association of (mostly agricultural) biotech firms, the informal study group for biofarmaceutical genetics was set up. This study group enables pharmaceutical companies to have some collective strategy on public decissions, without being associated with NIABA.

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Public-private collaborations are also an important innovation management practice. Researchers13 at the NKI (Dutch Cancer Institute) together with academic researchers in Leiden are setting up a micro-array facility. Financing is available from the CBG (Centre for Biomedical Genetics), a so-called top research school. Collaboration with a company producing micro-arrays is being sought to improve the micro-array technology. Affymetrix, the largest micro-array company has secured a particularly strong market position in this respect, obliging many research labs to use their arrays in order to maintain position. As a consequence of this exclusivity, chips for single measurements remain highly priced at around 10,000 Euros. Cheaper and faster micro-array technology (high-throughput screening technology) remains a bottleneck for the development of multi-factorial and somatic DNA-diagnostics, especially for large population studies (see interview with Van ‘t Veer).

Binding Rules Annemiek Nelis (1998) has elaborately described the establishment of the regime14 for clinical genetics. From her analysis it’s quite clear that the configuration for genetic diagnostics for long has been characterised by very strict binding rules with the centres for clinical genetics being the dominant actor. The development of genetic diagnostics for multi-factorial diseases is now changing this situation. The Regime for Clinical Genetics - The development of DNA-diagnostic tests started in the early eighties. The development took place in the then already well-established regime for clinical genetics. “Key-rules of this regime where the emphasis on (patient) autonomy, the separate (clinical genetic) centres, the importance of prevention (as the key objective of genetic counselling) and the financial and geographical availability of genetic counselling, prenatal diagnosis and chromosome analysis.” The development of the first DNA-diagnostic test easily found its way to the practice of clinical genetics and necessary negotiations and alignments were largely shaped by the established regime. The introduction of DNA-testing for Huntington in the late eighties posed some new, mostly ethical problems. New actors emerged and “Again the rules of the regime functioned as an exemplar” to the necessary negotiations. “In the early nineties (…) (t)he regime for clinical genetics can be said to have a strong position in the health care sector.” (Nelis, 1998)

The development of a multi-factorial regime - In the late nineties “(t)his situation is about to change due to the development of DNA-tests for widespread diseases such as cancer, Alzheimer and diabetes. (…) When in 1995 a first test (for hereditary forms of breast cancer) was introduced into the practice of clinical genetics this practice was not able to cope with: a) the number of women that would (potentially) apply for the test and b) the complexity of the genetic counselling that was required. (…) The answer to the problem of both scale and complexity were found in the formation of multi-disciplinary centres for hereditary tumours. (…) (The) articulation of new rules, which applied specifically to late-onset multi-factorial diseases, let to the fragmentation of the regime. This resulted in two regimes: the original mono-genetic regime on the one hand and a multi-factorial regime on the other. (In 1998) the National Board of Health (Gezondheidsraad) proposed to move the permit for genetic services from the centres of for clinical genetics to the academic hospitals. If this recommendation were followed, it would have major implications for the mono-genetic regime since it would loose its ‘monopoly’ position on genetic counselling and genetic diagnostics.” (Nelis, 1998)

General character of the Genetic Diagnostics configuration Compared to the situation in the eighties and early nineties the close-knit and strong network of clinical geneticists in the clinical genetic centres has been broadened. Within academic hospitals oncologists, pathologists and cardiologists are now becoming part of the former clinical genetic network, working independently, but under the license of the clinical genetics association. Clinical geneticists still have a strong position and a strong influence in policy issues (interview Van Schagen), but in general the configuration is loosing it’s close-knit character, with more actors involved and binding rules getting

13 These are typically researchers in pathology and epidemiology; disciplines that came relevant only since the shift towards multi -factorial and somatic DNA-diagnostics. 14 “A technological regime is the rule-set or grammar embedded in a complex of engineering practices, production process technologies, product characteristics, skills and procedures, ways of handling relevant artefacts and persons, ways of defining problems – all of them embedded in institutions and infrastructure” (Rip en Kemp, 1998, p.338)

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more flexible. Whether the mono-genetic and multi-factorial network will develop separately or become more integrated in one network, remains to be seen. Future innovative developments will certainly depend to a large extend on financial resources provided by pharmaceutical companies and developments in diagnostic industries. The rather grey boundary between (fundamental) research and clinical application means that future developments are also very much dependent on wider public (and medical) acceptance. Clinical chemists in regional hospitals are quite clearly forming their own more separate network. Integration in the clinical genetic network is not to be expected, because of difficult former relations. The diagnostic industry, an important newcomer over the last decade, will probably become an important partner for clinical chemistry on the basis of a purchaser-supplier relationship.

Construction of the Configuration Formality of a set of actors

Closed-knit configuration with a central role for 8 Centres for Clinical Genetics. Since 1995 outpatient-clinics for hereditary tumors, working under the permit of the clinical genetic centres. Pharmaceutical companies and diagnostic industry are getting a more important role.

Binding rules Former developments taking place within the strong regime for Clinical Genetics (1970-1995). Mono-genetic diagnostics still under this regime, but Since 1995 a new multi -factorial regime is being established as a reaction to new technological developments and the involvement of new actors (oncologists f.e.). Since 1996 a new (but still unstable) regime is being established among clinical chemists. The WMBV: only clinical genetic centres have a permission to offer DNA-tests. This law however hasn’t been a strict barriere for clinical chemists in regional hospitals to keep them from doing DNA-diagnostic research and testing. Patent Law provides openess, which enables strategic research positioning. No strict quality norms on diagnostic products, though European legislation is being made.

Resource Dependencies

Clinical chemists have problematic access to patientdata (Inter)national co-operation necessary for large population polymorfism studies. Polymorfism studies depend on cheaper and faster high-througput technology. Pharmaceutical and biotech industry is needed to provide the necessary financial resources for this development. Mutual dependency between public and private research (financial resources versus clinical patientdata) Bio-informaticists Diagnostic Industry is not dependent on governmental subsidies

Durability of relationships

Long term relationship between VSOP and regime for clinical genetics. Long term problematic relationship between clinical chemists and the regime for clinical genetics. No former relationships between pharmaceutical companies, biotech industry and public genetic research.

Actors The Centres for Clinical Genetics - The provision of genetic testing and genetic counselling in the Netherlands is organised through eight centres for clinical genetics. These centres are all linked to one of the academic hospitals and thus are situated in Amsterdam (2 centres), Rotterdam, Leiden, Nijmegen, Utrecht, Groningen and Maastricht. The centres for clinical genetics provide chromosome analyses, biochemical analysis, DNA tests, prenatal diagnosis, and complex forms of genetic counselling. Beside the eight centres for clinical genetics, there are two so called ‘satellite centres’.

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These are located in Eindhoven and Enschede and are linked to the centre for clinical genetics in Nijmegen and Utrecht respectively.

For reasons of both the scale and complexity of multi-factorial genetic diseases, all centres for clinical genetics in the Netherlands have secured co-operation with the oncology departments of the academic hospitals and have now founded outpatient clinics for ‘hereditary cancers’. These clinics are specialised in the field of hereditary cancers. Disciplines involved in the clinics are clinical genetics, oncologists, pathologists, gynaecologists and oncology nurses. Connected to each centre for clinical genetics are molecular and cytogenetic laboratories. These laboratories fullfil an important function in the research into diseases, therapies and the identification, location and isolation of genes and markers. This research is carried out in specific research divisions. Any of these research projects will be characterised by the strong involvement of patients and families who necessarily have to give their consent to the research. Quite often, research into mono-genetic diseases will is initiated through the active lobbying activities of patient organisations, organised in the Co-operating Parents and Patients Association (VSOP). Medical research in the Netherlands is what Braun15 would call a ‘State-financed research system’. Besides state funding, there are some charities that are rather influential in promoting and funding new research. The research shift from mono-genetic towards multi-factorial diseases, increases the role of charities such as the Koningin Wilhelmina Fonds for cancer research. The public research and public health sector are firmly intertwined, with research groups being institutionally and geographically close to the clinic, especially within the academic hospitals and clinical genetic centres, clinicians often combine research activities with patient care. Research on polymorphism depends on large population studies, making (often international) co-operation between different research groups necessary and creates large research networks.

Centre for Biomedical Genetics – Since 1998, an important cluster of academic research (UvA, EUR, RUL, RUU) has encompassed a total of 254 scientists and is organised by the Centre for Biomedical Genetics (CBG), a so-called top research school. The centre recieves 40 million Dutch guilders – 18.2 million Euro’s - from NWO, the Dutch Organisation for Scientific Research, besides the research funds already available at the participating institutes. The CBG aims to understand the function of genes and gene products in relation to disease employing a multidisciplinary approach, an area often designated as Functional Genomics. A major activity of the CBG involves the rapid introduction of innovative technology. 25 % of the NWO-budget will be spent on investments in new technology. Clinical Chemists in regional hospitals – At the end of the eighties, clinical chemists in large regional hospitals became interested in using DNA-analyses for their diagnostic work. Their entrance in the field was not easy. Internally, they had to convince the hospital management board of the importance of the development. Furthermore, since their introduction in the mid-eighties only clinical genetic centres were formally allowed to offer DNA diagnostic testing. This however has not prevented regional hospitals from doing DNA-diagnostics research especially on diseases for which there were already other diagnostic tests (and financing) available, such as Cystic Fibrosis for example. Over the last ten years, there has been a continuous struggle by clinical chemists to change this situation. Since 1996, the WMBD (working group molecular biological diagnostics) which is part of the NVKC (Dutch Association for Clinical Chemistry) has coordinated an external quality assessment circulation. Nowadays over 35 hospitals participate in this quality circulation. Only four or five are academic hospitals and there is no consultation between this quality assessment circulation and the ones organised by the clinical genetic centres. Clinical chemists form a small profession with a strong focus on quality control and automatization. Most of them studied chemistry whilst only a few are medical doctors by training. They have a low status within the hospital hierarchy and little contact with clinicians. Over the last couple of years they have been under pressure to become more efficient. Within the group of clinical chemists there is strong agreement on what their role and function should be.

15 Braun, D. (1994) Structure and Dynamics of Health Research and Public Funding. Dorcrecht: Kluwer.

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Dependency on patient data makes it hard (though not impossible) to do research in a regional hospital, because clinicians place their priority on treatment. Furthermore in regional hospitals it is primarily clinical chemists who are doing this kind of research and the clinical chemists have only very little contact with the clinicians within the hospitals, and thus limited access to patient data. The Dutch medical payment system, in which each medical discipline has his own budget, based on payment per treatment, complicates the co-operation between different diagnostic disciplines within the same hospital. A lot of diagnosis can be done through relatively conventional pathology, microbiology as well as clinical chemistry. Inefficient competition instead of co-operation is the rule meaning that expensive diagnostic equipment is hardly shared between the diagnostic sub-disciplines. Molecular diagnostics is on the top of the agenda of the annual meeting between the national associations for pathology, clinical chemistry and microbiology. Private Firms, pharmaceutical companies and diagnostic industry - Because of scale and complexity of multi-factorial genetic research, pharmaceutical companies and the diagnostic industry are attaining a more important role in the development of genetic diagnostic testing. High-throughput screening (micro-arrays) are needed to enlarge the screening capacity and to reduce the screening time. The innovative development of these screening technologies is done primarily by foreign companies (such as Affymetrix). To test and optimise their new prototypes, they co-operate with public research centres (Interview Bakker and Van ’t Veer). At the moment, the diagnostic industry is said to be the most important innovative player in the field of genetic diagnostics. There is currently only one large Dutch company involved in the development of medical diagnostics: Organon Teknika. Fifteen years ago this company started working on DNA-diagnostic tests, but the applications so far are limited to non-human use, specifically immunological diagnostics. Organon Teknika has an enabling technology that might be used for human diagnostics in the future. But to date they can be characterised as largely following developments initiated elsewhere. The diagnostic branch of industry is quite unstable at the moment. Many firms have overlapping product portfolios, which makes the sector less profitable, because of high price competition. For this reason, Organon Teknika recently announced a round economy measurement. Apart from Organon Teknika, there are only a few small Dutch companies (university spin-off) involved in genetic diagnostic technologies. These companies are said to be very important for innovative development. They often co-operate with university groups and have academic advisers to keep them informed on the latest developments. Diagned, the branch organisation for diagnostic industry in the Netherlands, represents mainly importers or foreign daughter companies. The Dutch market is only 2 to 3 % of their entire market16. For this reason, Diagned is not really involved, nor interested in wider discussions about the Dutch future of genetics in health (such as the forum ‘Genetics & Health). Pharmaceutical companies are said to play an important (future) role in the development of genetic diagnostics, because they are the only ones, able to make the large investments that are needed. Pharmaceutical companies are interested in genetic diagnostics because of the promise of pharmacogenetics. However, in the Netherlands such clinical trials are problematic, because of the necessary ethical approval and because hospital clinicians are not always willing to co-operate. Most research is therefore carried out abroad, mainly in the US. Organon, the only Dutch pharmaceutical company, focuses most of its genetic research on drug targeting. Most of this research is done in co-operation with other biotech companies. The last four years the amount of work they have spent on collaborations has tripled: an increase almost entirely attributable to the implementation of new high-tech drug discovery techniques such as genomics and combinatorial chemistry. 30 % of the research budget is spent on collaborative research. (Dr. Henri Theunissen, head of genomics and Bioinformatics). Considering the Dutch climate for genetic research, it is no surprise that their research in genetic factors for mental depression and schizophrenia is carried out in their Scottish research site.

16 This is also the case for Dutch spin-off companies.

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For Glaxo Wellcome, the Netherlands plays a prominent role for their clinical research. Clinical trials are carried out in more than 240 Dutch sites (Glaxo Wellcome, brochure 98/99). Van Schagen, the director corporate affairs, is responsible for long term strategic planning, societal acceptance and corporate identity. At the moment, the Dutch medical-ethical climate is one of his main concerns. He is actively involved in facilitating the public debate on genetic issues. In general the private sector is still searching for ways to defend their collective interests. There are several formal and informal initiatives. Biofarmind is a corporation of 13 biotechnological pharmaceutical companies. A more informal initiative is the ‘Werkgroep Biofarmaceutische Genetica’ (Study Group Biofarmaceutical Genetics). Smith Kline Beecham, Roche, Glaxo Wellcome and Biofarmind are participating in this group.

Government - The government promotes self-regulation by the professional medical associations. These associations play an important role in the alignment of research activities, quality control and task distribution. Policy making that is relevant for the development of genetic diagnostics is distributed over many different departments within the ministry of health. The department for medical ethics deals with ethical aspects; the department for medicines (GMV geneesmiddelen voorzieningen) deals with diagnostic tests; the department for prevention and protection is responsible for the WBO (law on population based research); and so on, and so on. Consultation between departments is on an ad-hoc basis. At the moment a ministry-wide Policy Plan is being prepared on the application of genetics in healthcare. The plan is expected in December 2000, with about a half-year delay. Intermediary bodies – Advisory committees, in which relevant actors (most important the medical professions, sometimes also private actors) are represented, are an important determinant for Dutch policy. In practice, this results in a far-reaching form of self-regulation. For the regulation and organisation of medical genetics the Health Council (Gezondheidsraad) is the most important advisory committee. A wide medical audience read their reports, because their recommendations are an important indication of future governmental policy and regulation, guiding informal practical binding rules, even if they contradict with formal legislation. Intermediary bodies, such as NWO-MW and ZON are responsible for public financing of genetic research. For cancer-related genetic research the Koningin Wilhelmina Fonds (KWF), a charity fund, is the most important funding organisation. Health Insurance Companies - In two ways health insurance companies play a role in the development of medical genetics: Their policy with regards to genetic risk information is important for the public acceptance of genetic diagnostic research. The Insurance Companies Association however is not very pro-active in the public debate on medical genetics. The ministry of health is promoting a more important role for health insurance companies in directing cost-effectiveness in health care in the belief that market mechanisms will increase cost-effectiveness. So far, health insurance companies do not consider preventive medicine as their responsibility. Patient Organisations - All patient organisations for hereditary diseases are associated in the Co-operating Parents and Patients Association (VSOP). Patient organisations have been an important promoter of the development of genetic diagnostic tests. Furthermore, the VSOP plays an important role in the public debate on genetic research and in public education on genetic issues which, in turn, can be important for spreading genetic knowledge to the clinic. Typically, patients are often better informed in respect to specialist knowledge than their general practitioners. There are hardly any patient organisations for common diseases that play an important role in the genetic diagnostics network. ‘Stichting Bloedlink’, a patient corporation for hereditary coronary heart diseases is the one exception. The main aim of this corporation is to track down patients with hereditary coronary heart disease and to provide them with information on early treatment. Though this corporation clearly starts from a genetic paradigm, it is using non-genetic diagnostic methods (measurement of high cholesterol). The corporation is somewhat different from other patient groups, because it has formally no members, only donors. This enables the board to be more effective, but also creates a legitimacy problem.

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Regulation Genetic Services - Since their introduction in mid-eighties DNA diagnostic tests were the subject of regulation through section 18 of the Hospital Provisions Act. Recently, the Hospital Provision Act has been replaced by a similar Act: the Law on Extraordinary Medical Provisions (Wet Bijzondere Medische Verrichtingen) (WBMV). Every year, the Foundations for clinical genetics (of which the centres for clinical genetics are part) obtain a permit from the Ministry of Health that entitles them to offer a number of genetic servi ces. Other medical professions or, for that matter, medical institutions are therefore not allowed by law to provide these services. This law however has not prevented regional hospitals from doing DNA-diagnostics research especially on diseases for which there were already other diagnostic tests (and financing) available, such as Cystic Fibrosis for example. The influential Health Council’s report on DNA diagnostics (1998) has played an important role in further legitimating the work of clinical chemists on DNA diagnostics. The report differentiates between somatic and germ-line DNA-diagnostics and between simple and complex diagnostics. In accordance with international convention, it concludes that only complex germ-line diagnostics should stay under license. Though formal legislation still has not changed, this is now a generally accepted rule. The distinction between simple and complex is not very clear however, which makes the rule a very flexible one. Genetic Screening – In 1994 the Health Council produced a report on the issue of genetic screening (Gezondheidsraad, 1994). In accordance with the recommendations that were made in this report, a commission of the Health Council is now assigned to assess all applications for large scale genetic screening (population screening). This is also formally stipulated through the Law on Population Screening (Wet op het Bevolkingsonderzoek ). One of the main criteria of this law is that screening is only permissible if either treatment or preventive measurements are available. In this light, the Minister of Health has recently argued that this condition should apply to all genetic tests, including large scale screening in the context of clinical genetics (that is within at-risk families). Patient organisations have strongly opposed to this argument.

Quality of Diagnostic Test kits - Compared to other European countries quality guarantees of sensitivity and specificity of diagnostic tests kits are badly regulated. At the moment European regulation is being made. In the US regulation on diagnostic quality is said to be much better. The centres for clinical genetic centres rarely use diagnostic test kits. They have their own diagnostic testing protocols and quality assessment procedures.

Patent law and Intellectual Properties Policy - Patent law and Intellectual Property Policy is said to have an important positive influence on the transparency and alignment of the medical genetic field. Examination of patent position is an important FOCA. Future Oriented Co-ordination Activities Starting in 1995 the number and character of foresightstudies and Future Oriented Co-ordination Activities in the field of genetic diagnostics has been changing. These changes correlate with configurational changes linked to the development of genetic diagnostics for multifactorial diseases and the development of somatic DNA diagnostics. In contrast to the situation in the UK, where genetic technology has been high on the agenda of the Health and Life Sciences Panel of the OST national Foresight programme (OST, 1995), in the Netherlands at that time, anticipating the future of genetic diagnostics did not take place in broader circles, such as national Foresight initiatives (Nelis, 2000) ‘The foresight report on medicine for example, pays little attention to the subject of genetics, let it alone it would describe any ‘revolutionary’ characteristics to this technology’ (KNAW, 1994), (note 12, Nelis, 2000). Nelis (2000), of the Dutch FORMAKIN research team, has argued that the close-knit character of the genetic diagnostics configuration in the Netherlands ‘has meant that the technological, organisational and cultural uncertainties… have been broadly contained within this network, which has in a sense been ‘authorised’ by both the wider clinical profession and government to manage the ‘new’ genetics… If, as was the case in the Netherlands, a particular configuration is very stable but also very non-permeable for outsiders, it is less likely foresight will be used as a strategy or tool to deal with

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future uncertainties. As was illustrated in the Dutch case, such a network might profit much more from a future-orientation that is held within the boundaries of the configuration itself. Also, because of the strong linkages within such a configuration, one might say, they are more or less capable to create their own ‘local foresight exercise’. These are not formally initiated but nonetheless have a similar function as formal foresight exercises.” Advise Reports, written by the Health Council are typical examples of such local foresight exercises… it is the spokespersons from the genetic community who participate in and chair these committees and, as such, have a strong influence on the content of these documents. As was mentioned before, although the Health Council is supposed to advise on state of the art science, it has proved to have a substantial influence on the future organisation of health care in the Netherlands (Rigter, 1992). As such, it is an important source of future co-ordination’.17 Though the close-knit character of the configuration is not the only possible explanation for the fact that genetics didn’t appear on the national foresight agenda, the argument is now strengthened by the fact that since the multi-factorial shift in genetic diagnostics, the character of foresight and foca is changing as has been foreseen by Nelis: As a consequence of these and other developments, the network of genetic diagnostics will become more open to different actors. As for our hypotheses, this would mean that in the future there will be more space for formal foresight studies. This may be a lesson for policy makers or even the network of geneticsts, to take into account. As in the UK, we may well see a much greater differentiation between the technological, organisational and cultural definitions and management of uncertainties surrounding genetic diagnostics. Under such conditions whereby the network can be characterised as more permeable, heterogeneous and more extended than it once was, there is a greater need for fora that enable actors to access and translate one another’s interests (Nelis, 2000). Indeed, over the past five years, the character of Future Oriented Co-ordination Activities has changed. The committee that wrote the 1998 Health Council report on DNA Diagnostics, for example, is strinkingly different from its predecessors. Though the influence of the traditional clinical genetic regime is still considerable, the committee encompassed a broad range of new actors (oncologists, pathologists, clinical chemists, ministry of health, psychologists, clinical law) and interviewed about 40 experts. Furthermore a number of Future Oriented Co-ordination Activities has been initiated by actors outside the traditional regime of clinical genetics: Rathenau Study on ‘Predictive Medicine’ Platform on Biomedical Technology, initiated by the biofarmaceutical industry Forum on Genetics and Health, initiated by patient organisations, supported by pharmaceutical industry and facilitated by the Ministry of Health. Quite recently, a wide number of intermediary organisation in health and science policy, have taken up the genetic theme:

• The Council for Healthcare Research (Raad voor Gezondheidszorg Onderzoek, RGO) has been asked to map the lack of knowledge with regard to the clinical application and societal effects of genomics

• The Advisory Council for Science and Technology Policy (Adviesraad voor Wetenschap- en Technologiebeleid, AWT) is conducting a foresight study for science policy on the societal impact of the Human Genome Project

• The Foundation for Future Health Scenario’s (STG) will probably be asked to map the possible future implications of biotechnology on the organisation of healthcare

17 During the seventies, the Health Council published two important reports on genetic testing: Genetic Counselling (Gezondheidsraad, 1977), and its report on Cytogenetic Laboratories (Gezondheidsraad, 1979). The publication of the Health Council’s report Genetic Counselling retrospectively turned out to provide a blue-print for the organisation of clinical genetics. Most, if not all, of the recommendations of the committee were put into place. The committee that wrote the report consisted of both clinicians - mainly paediatricians who were involved in the provision of genetic counselling - and researchers - involved in research on prenatal diagnosis and chromosome analysis.” Nelis, A. (2000). Genetics and Uncertainty. Contested Futures: a sociology of prospective techno-science. N. Brown, B. Rappert and A. Webster. Ashgate, Aldershot.

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Below, I will, in somewhat more detail, go into some of these Future Oriented Co-ordination Activities that are characteristic and indicative of the multi-factorial shift in genetic diagnostic research. Note that the FOCA mentioned, typically refer to organisational and societal future uncertainties. In the field of genetic diagnostics there is a clear division between technological/scientific and societal/organisational Future Oriented Co-ordination Activities. Technological/scientific FOCA is still typically of an informal nature. Technological FOCA - Scientific literature18, conference meetings, network relations (between public and private researchers, but also between members of medical professional associations), international market studies and so on are typical knowledge resources through which innovative actors get their latest information on the ongoing technological and scientific developments. The pace of change is said to be so quick and unpredictable that more formal foresight and future studies can never be up-to-date. The Health Council committee for the DNA Diagnostics report tried to make some future predictions on technological and scientific developments. They deliberately decided to do some short-term predictions (5 year), but later decided that even on that timescale it was impossible to do reliable predictions. On asking about foresight and future orientation one of the interviewees said: ‘The future, that’s what you see going on’. Extrapolating past experiences is a typical informal foresight method that is used to explain ones’ future expectations. Developments have been quick, radical and unpredictable over the past ten years, so they will be quick, radical and unpredictable over the next ten years. There has been an enormous automation of diagnostic research in clinical chemistry so there will be a comparable future development of automation in genetic diagnostic research. Technology Radar (1997-1998) - The department for Techology Policy within the Ministry of Economic Affairs carried out a foresight study, called Technologieradar. The study considers a time scale of ten years and aims explicitly on strengthening the link between public and private R&D activities (especially SME activity). The study is not meant to inform governmental policy or priority setting. The study has been criticised for reflecting too much the status quo and for being too one-sided. Only 100 persons were consulted. The follow-up was considered more important for getting new insights. Gene technology has been identified as one of fifteen strategic technologies. As a follow-up a workshop has been organised to stimulate discussion and action on alignment within the knowledge infrastructure. One of the workshops was on ‘Life sciences: genomics’. As a result of this workshop a group has been formed to develop a strategic vision on future genomics research in the Netherlands. Furthermore the Ministry of Economic Affairs conducted a preliminary study on a Innovative Research Programme (IOP) ‘genomics, bioinformatics and combinatorial chemistry’. In May 2000, the minister decided to allocate 30 to 40 million guilders on a IOP for genomics. Neither Prof. Houthoff (Kreatech Diagnostics), nor Dr. Van Weemen (Organon Teknika) are familiar with the technology radar. Van Schagen (Glaxo Wellcome) says that the Economic Affairs Foresight Studies are very much directed at the competitive position of the Netherlands in a international market and are more relevant for smaller ‘spin-off companies’. These studies typically make an assessment of the status quo of a field in comparison with foreign countries. They can be used to legititimate policy making, such as the IOP on genomics, they have no or only very little impact on future expectations or alignment in the field. Organisational/societal FOCA - Foresight on societal and organisational developments is typically of a more formal nature. Among these studies, the Health Council’s report on ‘DNA Diagnostics’ (1998) and the iMTA (institute for Medical Technology Assessment) reported on ‘The present and future organisation of clinical genetic research in the Netherlands’ (1998) abd are without doubt the most influential and well-known recent studies in this field. Health Council’s report on DNA diagnostics (1994-1998) - This report was initiated in 1994 by the ‘beraadsgroep genetica’ in which Prof. Galjaard, the Dutch ‘ambassador’ or main spokesperson of clinical genetics, played an important role. Formally the Health Council reports on the status quo of scientific knowledge. In practice the Council has always had considerable influence on the future

18 Journals like Science and Nature also publish editorials on organisational and societal aspects of future science and technology developments.

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organisation and regulation of health care (Nelis, 1998). Since its advisory commissions are dominated by scientists and clinicians, the professionals obtain enormous power determining the content of the reports thus produced (Kirejczyk, 1996). The report on Genetic Diagnostics was considered politically very important (both by the people who wrote it, as by people within the wider field of genetic diagnostic research and care). The report came in a relatively early stage of the development of multi-factorial and somatic DNA diagnostocs. The committee encompassed a broad range of actors (clinical geneticists, oncologists, pathologists, clinical chemists, ministry of health, psychologists, clinical law) and interviewed about 40 experts. The report differentiates between simple and complex germline DNA-diagnostics and comes to the conclusion that only complex germline diagnostics should stay under license. Furthermore it recommends an integration of the centres for clinical genetics within the academic hospitals. Though formal legislation still hasn’t changed, these recommendations are now generally accepted in the field. The report has been used to legitimate the license of the ‘Clinic for hereditary tumors’ at the NKI (Dutch Cancer Insitute). The Health Council’s relatively early anticipation on the multi-factorial shift can be explained using configuration characteristics. Especially in a strictly regulated context such as the Netherlands, the pressure to anticipate changes that will result from the development of genetic tests for multi-factorial diseases is felt very strongly. Three main drivers can be identified as causing the need to change. In the first place the anticipated need for change is induced by the increasing number of requests for genetic tests. In the second place it is induced by the complexity of the issue, particularly where multi-factorial diseases are concerned. Thirdly the need to change was necessary, because legal restrictions could hinder ongoing developments. Furthermore the monopolist role of clinical geneticists had been under pressure for quite a while and the new developments only increased this pressure. Early anticipation gave clinical geneticists the opportunity to influence the future development before their monopolist position was already being circumvented in practice.19 The formal ministrial request for the DNA diagnostics report encompassed both pre- and postnatal diagnostics. The committee decided to limit their advice to postnatal diagnostics. This can well be understood as a strategical move: especially within the field of postnatal diagnostics (multifactorial diseases and somatic (tumor) diagnostics) changes were taking place and big issues were at stake. At the same time a very similar report was written on ‘The present and future organisation of clinical genetic research in the Netherlands’. This report was commissioned by the ‘Health Insurance Council’ (Ziekenfondsraad) and carried out by iMTA (institute for Medical Technology Assessment). Both reports were published shortly after one another. Rathenau project on Predictive Medicine (1997-2000) - The Rathenau Institute carried out two projects to gain more insight into the normative aspects of predictive medicine. In the first project, carried out by the STG (Foundation Future Scenarios Health Service) four future scenarios for the year 2010 were developed. ‘The scenarios make clear that, in the implementation of predictive medicine, there will be a question of striking balance between the possibility of using the knowledge of the risk of illness and the associated stress and the false security given by the diagnostic tests.’ (Rathenau Instituut 2000). Desk research and expert consultation have been used to write the scenarios. The second project was a desk research study by a philosopher on the possible normative and political consequences of predictive medicine. The objective of the project was to contribute to political opinion making and societal debate. ‘The core reasoning in the study was that predictive medicine is different in character from symptom-related medicine… The principle of autonomy, which allows the patient to decide whether or not to undergo treatment, does not work very well in predictive medicine… The principle of autonomy of the patient does not provide any protection, thus according to the study – active political measures are necessary…’. Autonomy, as Nelis (1998) has claimed, is one of the key-rules of the regime for clinical genetics. Therefore it is not surprising that medical professional groups have been critizing this study. Both the report and the subsequent critique are indicative of the transitional state of the genetic configuration. Former outsiders are contributing to the societal discussion and questioning the key-rules of the former regime of clinical genetics. Former key-

19 In practice legislation is not enough to secure the monopolist position of the clinical geneticists, as has been shown by the fact that legislation couldn’t prevent clinical chemists from doing genetic diagnostics.

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actors are trying to protect the boundaries of the genetic configuration. In reaction to the severe criticism, the Rathenau Institute decided to organise a workshop with these critics. The workshop did not settle the differences in opinion. ‘It was found that the dilemmas experienced, associated with predictive medicine were not shared by the group of medical professionals’ (Rathenau Instituut, 2000). Though the critic has caused some delay, the Rathenau finally decided to publish the report (Nleis, 2000). The report is less widely known than the Health Council Report on DNA Diagnostics. Actors, such as Van den Bergh (Clinical chemist), Van Weemen (Organon Teknika), Houthoff (Kreatech Diagnostics) and Martens (Clinical Chemist), who do not belong to the traditional clinical genetic network have not come across the report. Others, more concerned with public debates, such as Van Schagen (Glaxo Wellcome), Steger-Van Lisdonk (Insurance Companies association), Van de Wijngaarden (Ministry of Health) did read the report and use it as one of their knowledge sources on the long-term impact of genetic diagnostics on society. AWT Foresight Study - The Advisory Council for Science and Technology Policy (Adviesraad voor Wetenschap- en Technologiebeleid, AWT) is conducting a foresight study for science policy on the societal impact of the Human Genome Project. The objective of the study is to evaluate whether there is enough scholarlly attention for the broader societal impacts of developments in the life sciences. The idea is that the outcome should influence the government’s science policy and budget. Furthermore the AWT wants to do more on technological and innovative subjects and be of relevance for the Ministry of Economic Affairs as well. TNO-STB has mapped the recent research field. Nearly 50% of research is in behavioural science, about 30% in social science, only 7% in economics and only 5% in law. Platform Medical Biotechnology (1999-continuing) - In 1999 Biofarmind (association of biofarmaceutical industry) has initiated the ‘Platform Medical Biotechnology’ with support of the Ministry of Health. This platform brings together a wide range of organisations and governmental departments to contribute to a sound decision making in the development and application of medical biotechnology. Forum Genetics and Health (2000-continuing) - The VSOP (Co-operating Parents and Patients Association) has taken the initiative for a Joint Policy on Genetic Research. Pharmaceutical companies supported the initiative. In February 2000 nearly 20 organisations (health insurance companies, patient associations and medical professional associations) accorded 18 objectives for genetic research. As a follow-up the Ministry of Health has now taken the lead in initiating a broad national forum on genetics and health care. Within the core group, preparing this forum, none of the newcomers (diagnostic industry, clinical chemistst) are represented. The Insurers Union (Verbond van Verzekeraars) initially participated in the core group, but left the group between the second and the third meeting, because subjects to be discussed were either not of interest to insurers (orphan drugs) or political interests were too big. During the second coregroup meeting it was decided to make the forum open to public debate. Autumn 2000 the ‘Forum Genetics and Health’ will be installed by the Ministry of Health. The forum is very similar to the ‘Platform Medical Biotechnology’. Note that the Forum on Genetics and Health still has a historical bias in their composition. Neither clinical chemistry, nor the diagnostic industry is represented.

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Brief discussion of base data In recent years the number of actors involved in genetic diagnostics has expanded considerably. The history of the clinical geneticists and the clinical genetic centres has been elaborately analysed and described before (Nelis, 1998). For this reason, we decided to focus interviews on relatively recent arrivals to the field – researchers in multi-factorial diseases and clinical chemists in regional hospitals - and on the role of the pharmaceutical and diagnostic industry. The original idea was to focus the empirical research on two specific diseases. In practice was not feasible because it was difficult to find diseases on which all relevant actors were working. Especially since diagnostic and pharmaceutical companies are hardly involved in disease-specific developments. As a start of the empirical work, we attended the Invitational Conference ‘Joint Policy Genetic Research’ offering a good introduction in the field.

List of interviewees Academic researchers Dr. E. Bakker, head of the DNA-diagnostic laboratory in Leiden Ms. Dr. L. van ‘t Veer, molecular biologist, head of the out-patient clinic for hereditary tumors and researcher at the pathology department at the Dutch Cancer Institute (NKI)

Intermediary and governmental actors S. Korf-De Gids, programme secretary for innovative prevention research, ZON. I. Gersons, secretary of the Health Council’s committee on Genetic Diagnostics J.B. v/d Wijngaarden, Ministry of Health, department for Medical Ethics Pharmaceutical and diagnostic industry Prof. dr. Houthoff, director of Kreatech Diagnostics Dr. van Weemen, Scientific director, Organon Teknika Dr. C.G. van Schagen, Director corporate affairs, Glaxo Wellcome. Clinical Chemists Dr. F.A.J.T.M. van den Bergh, Medisch Spectrum Twente, Enschede. Dr. J. Martens, Twenteborgziekenhuis, Almelo. Patient organisations A. van Bellen, chair of Bloedlink, patient corporation for hereditary coronary diseases.

Insurance Companies Ms. Y.W.H.H.A. Steger v/d Lisdonk, administration executive, Verbond van Verzekeraars (Insurance Companies Association), Committee Medical-ethical Issues. (telephone interview). Conferences STG-workshop, ‘Scenario’s Genetics’, 16-11-98. Medical Science Day on Molecular diagnosis and disease, organisd by the Federation of Medical Scientific Associations (federatie medisch wetenschappelijke verenigingen, FMWV), 16-12-98. Rathenau workshop ‘Predictive Medicine’, 2-2-99. Second Invitational Conference ‘Joint Policy Genetic Research’, 20-1-2000, organised by the Co-operating Parents and Patients Organisation (VSOP) and the Foundation for Future Health Scenario’s (STG). Secondary Literature (see References below)

References Gezondheidsraad (1998), DNA-diagnostiek, Advies van de Commissie DNA-diagnostiek. 1998/11, ‘s Gravenhage: Staatsuitgeverij. Horstman, K., G. H. de Vries et al. (1999) Gezondheidspolitiek in een rgerschap in het tijdperk van de

voorspellende geneeskunde. The Hague, Rathenau Instituut.

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Rathenau Instituut (2000). From micro-electronics to mega-ICT, Information and Communication Technology. Annual Report 1999. The Hague, Rathenau Instituut.

Kirejczyk, M. (1996). Met technologie gezegend? Gender en de omstreden invoering van in vitro fertilisatie in de Nederlandse Gezondheidszorg. Utrecht, Jan van Arkel.

KNAW (1994). Discipline-advies Geneeskunde 1994, KNAW, Commissie Geneeskunde, Subcommissie ten behoeve van het discipline-advies Geneeskunde.

Nelis, A. (1998). DNA-diagnostiek in Nederland : een regime-analyse van de ontwikkeling van de klinische genetica en DNA-diagnostische tests, 1970-1997. Enschede, Twente University Press.

Nelis, A. (2000). Genetics and Uncertainty. In N. Brown, B. Rappert and A. Webster. Contested Futures. A Sociology of prospective techno-science. Ashgate, Aldershot.

OST (1995). Progress through Partnership: Report from the Steering Group of the Technology Foresight Programme. London, HMSO.

Rigter, R.B.M. (1992). Met raad en daad. De geschiedenis van de Gezondheidsraad, 1902-1985. Rotterdam: Erasmus Universiteit.

VSOP/STG (2000), Basisplan gezamenlijk beleid genetisch onderzoek, Second Invitational Conference, January 20th 2000, Soestduinen

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Gene Therapy in the Netherlands A Case Study

Construction of the configuration

Research Loci While the Dutch history of gene therapy has many similarities with developments elsewhere, following largely upon the US, it also has some profound differences. One of the most striking differences is the role of the biotech and pharmaceutical industry. While in the early 1980s, UK and the US scientists were institutionally encouraged to create academic spin-off biotech companies to apply their knowledge in private settings, the Dutch academic tradition is characterised by the absence of such initiatives. The Netherlands currently has two private initiatives in the field of gene therapy: one is a relatively small but expanding company called Introgene which has been very successful with their Per.C6 cell line20. Professor D. Valerio established Introgene as a university spin-off company in 1993. The second commercial initiative is more recent. The Academic Hospital of Amsterdam (AMC) has set up a gene therapy unit (Amsterdam Molecular Therapeutics) of which both the University and the scientists involved hold part of the shares. In the long term, the aim is for the University to sell a large proportion or perhaps all of its shares to a large pharmaceutical company.21 Beside these private initiatives most gene therapy research takes place in a number of academic settings, such as the university hospitals (Rotterdam, Utrecht, Nijmegen, Groningen en Leiden), but also within public research institutes like the Central Laboratory for Blood transfusion (CLB), the Dutch Institute for Neuroscience (Nederlands Herseninstituut), The Dutch Organisation for Applied Scientific Research, (TNO-Preventie en Gezondheid) and the National Cancer Foundation (NKI). The latter has a very strong research base and is well known for its research. The director of the NKI has close contacts with a company in San Francisco. For two years, while at the same time being head of the NKI, he directed the company’s research department. As a result of the collaboration, one of the products developed in the US was used in a phase I clinical trial in Amsterdam. Over the past two years, academic as well as private researchers have collaborated to establish the Dutch Association for Gene Therapy. This association plays a major role in the promotion of gene therapy research. It facilitates information exchange between members, but also serves as an active spokesperson for gene therapy research within policy circles. The association is very much in favour of a central production facility and has actively promoted this initiative within the ministry of health. Furthermore the association has organised a PR-campaign for gene therapy and the association actively tries to attract the interest of foreign pharmaceutical companies to finance Dutch gene therapy research. Resources Genetherapy research (especially the clinical trials) is acutely resource intensive. Financing by large pharmaceutical industry is said to be the only way to develop gene therapy. Individual researchers as well as the Dutch Association for Gene Therapy attempt to enrol foreign pharmaceutical actors to finance clinical trials. The Dutch Association for Gene Therapy has sought to enrol the ministry of health to finance a central production facility for vector-production. The Academic Hospital of Amsterdam (AMC) established a commercial gene therapy unit (AMT) to raise necessary venture capital. Financing by the Dutch Research Council (NWO) and the Cancer Fund (KWF) is difficult for two reasons. 1) Whether or not gene therapy will ever become of clinical relevance is still in doubt; 2)

20 This is a production system for the manufacturing of safe batches of adenovirus. 21 Pharmaceutical industry within the Netherlands – as much as biopharmaceutical industry – is a rather weak industry if compared to for example the UK or the US. However, many of the big companies, such as Merck, Glaxo and so on, have branches in the Netherlands which have close contacts with local biotech firms and academic researchers.

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Social acceptability of gene therapy remains an contentious issue. Recent developments indicate that both NWO and KWF are becoming more open to the funding of gene therapy research. Regulation The governance of Gene therapy currently focuses particularly on the regulation of clinical trials. Every trial officially has to be reviewed by the CCMO. The CCMO, the Centrale Commissie voor Mensgebonden Onderzoek (Central Commission for Research in Humans) has only recently been put in place. Since its launch in January 2000, the Kern Commissie Ethiek (KEMO) ceased to exist. The instalment of the CCMO is directly linked to the introduction of new legislation: the Law on Medical experiments on Human beings (WMO – Wet Medisch-wetenschappelijk Onderzoek met mensen). The main task of the CCMO is to supervise the functioning of local medical ethical commissions. The CCMO also provides a record of all medical scientific research that is conducted within the Netherlands. Last but not least, the CCMO reviews protocols for medical scientific research, which are of such novelty that expert knowledge can be said to be rather scarce. The latter, without exemption, is true for all experiments in the field of gene therapy and xeno-transplantation. The main difference between the former regulatory body – the KEMO – and the CCMO is their official status: while the KEMO only provided advise on the question whether an experiment should or should not be performed, the CCMO has a statutory power to decide whether an experiment should or should not be executed. Beside the CCMO, clinical researchers have to deal with a number of other safety measures and need permission from a number of different actors and initiatives:

The ‘Commisie Genetische Modificatie’ (Commission Genetic Modification) COGEM The ‘Werkgroep Infectie Preventie’ (Workgroup Infection Prevention) WIP The ‘inspectie voor de volksgezondheid’ (Inspection for Puclic Health) is responsible for the ‘Wet op de geneesmiddelenvoorziening’ (law for drug delivery service) and controls for Good Manufacturing Practice (GMP) The report ‘Gene Therapy’ from the Health Council (Gezondheidsraad 1997) advised the Minister of Health to implement a large number of safety regulation measures, among which the aforementioned GMP practice (but also GLP and others) Finally, there exists a moratorium on germ-line gene therapy.

Central Facility for Vector Production The 1997 Health Council’s report on gene therapy recommended to the Minister of Health the establishment of a central facility for the production of vectors under Good Manufacturing Practice Conditions (Centrale faciliteit voor vectorproductie). The minister decided to investigate the facilitation of a central facility within the framework of the national orphan drug policy. Recently (March 2000), TNO-PG (The Dutch Organisation for Applied Scientific Research) completed a study on the viability of such a facility. Conclusions are fairly positive and a phased start-up is recommended. Within the first phase, the facility will function as an expertise centre but the production of actual vectors will be contracted out to others. The main question however, is whether the Minster of Health is willing to take care of the costs of such a facility (or who else should).

General character of the gene therapy network In general the gene therapy network in the Netherlands can be characterised as relatively small and transparent. The main actors and promoters of gene therapy research are without doubt the researchers within university hospitals and within public research institutions. The CCMO and the Dutch Association for Gene Therapy, whose members are mainly academic, play a central role within the network. The CCMO has statutory power to judge all gene therapy research protocols and also takes scientific arguments into account. The Dutch Association for Gene Therapy plays a central role in the promotion of gene therapy research. Financial resources, safety-regulations and public image are their major concerns The durability of relationships however is transitory. New researchers and private firms can enter the field without difficulty, and older ones easily shift their attention away from gene therapy-applications. In general, private firms focus on the development of platform technologies not on the development of gene therapy as such.

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Formality of a set of actors

Recent instalment (Jan. 2000) of the CCMO Recent (1998) foundation of the Dutch Association for Gene Therapy (NVGT). NVGT being the most important promoter of gene therapy research in the Netherlands Strong, but academic-industry relations

Binding rules Becoming more articulated and strong Moratorium for germline gene therapy Large number of safety regulation measures (COGEM/WIP/ARBO/GMP/GLP) CCMO-approval of gene therapy research takes scientific quality into account Gene therapy does not fit into the traditional concepts of medicines that pharmaceutical companies use Intellectual property is important for private companies

Resource Dependencies

Resource intensive Venture capital (AMT, Introgene) or sponsoring by pharmaceutical companies is said to be the only way to develop gene therapy Focus on US research Public trust in clinical relevance and public trust in safety is needed: “anxiety for public anxiety” Safety regulations make clinical trials extra expensive. Enrolment of the Ministry of Health to finance a central production facility for vector-production

Durability of relationships

Transitory Private companies focus on platformtechnologies not on gene therapy as such Relatively easy for academic researchers to enter the field of gene therapy research Short timeframes for innovation-management, high technological uncertainties.

Discussion of sector dynamics within the configuration

Science and Technology Development While gene therapy was originally envisaged as a technology which would lead to the treatment of hereditary mono-genetic disorders such as CF, Huntington and Duchenne, current research is mostly directed towards common cancers, AIDS and coronary heart disease. With respect to the latter, one of the most recent and most promising developments is the development of gene therapy to prevent re-vascularisation of ischaemic tissue after a coronary by-pass surgery (Smith 1999). A major difference between gene therapy for hereditary disorders and genetic disorders such as cancer and coronary heart failures is the number of times a treatment has to be repeated. While for hereditary disorders the genes have to be activated again and again over a lifetime, with cancer and heart disorders a short effect can potentially be enough to make the problem disappear. The key changes in recent years have been the shift from ex-vivo to in-vivo applications and from rare monogenetic to common multi-factorial diseases. This latter shift is linked to resource dependency and the need to interest large pharmaceutical companies in gene therapy research.

Expectations and promises The promises that surrounded the development of gene therapy in the early nineties proved too difficult in practice. Essentially, gene therapy failed to become the powerful clinical approach that had been expected. Nonetheless, expectations did not disappear. However, it can be said that they changed content. Promises became more realistic. References to the earlier hype of gene therapy and its effect on current research were provided in almost every interview. Almost all interviewees referred to the ‘hype’ that surrounded gene therapy in the past and the more realistic scenarios that have begun to circulate more recently. Over the past ten years the revolutionary expectations for gene therapy have changed into a more diverse and less ambitious set of promises. Expectations differ according to disease. Gene therapy is not anymore seen as a revolutionary therapy that can be used to cure all diseases, but is more and more seen as a technology that can be used under certain conditions and often as an additional

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therapy. Some researchers literally question the whole development in terms of its relevance for medicine and its innovative character. Expectations and promises however can differ enormously between constituencies. On the research policy level and within wider public contexts expectations for gene therapy can still be very high. Louise Gunning-Schepers, Professor in Social Medicine and member and future chair of the board (raad van bestuur) of the AMC (Academic Hospital Amsterdam) says in an interview with NRC-Handelsblad (24-6-2000) “Gene therapy is interesting for public health, because probably it will be able to change the origin of disease. (…) A second important aspect is the relatively easy production of gene therapy medicines. (…) It is nearly as easy to develop therapies for very rare diseases as it is for common diseases. The production of orphan drugs will become much easier.” The promise here is, that research for rare monogenetic diseases will benefit automatically from gene therapy research for multi-factorial diseases. This promise is very much in conflict with the current view among researchers that promises and applications differ widely for different diseases. This promise however might also be the reason for government (Ministry of Health) to facilitate a central production facility for gene therapy research. These different expectations and promises are not the result of none-communication between research and policy cycles but are purposefully maintained by gene therapy advocates to raise public and private resources. Barriers and uncertainties It must be stressed that there have been few successes, if any, in the therapeutic treatment of patients by gene therapy. What are the main barriers for the clinical application of this technology that originally looked so promising? First of all, both the literature and interviewees suggest barriers to be of a technical nature. That is, technological difficulties seem to be the main reason gene therapy is as far away from daily use in clinical practice as it currently is. With respect to technical issues, a number of issues have to be distinguished. A general problem concerns the appropriate vector delivery system to be used. Vectors can be either viral or non-viral and either an adenovirus or retrovirus. However, all of these different vectors have different advantages and disadvantages. Viruses, according to some, are much more unsafe than non-viral vectors because of their ability to reproduce. Nowadays, in approximately 80% of all gene therapy research, viral vectors are being used. Many actors, largely in response to safety concerns, are now anticipating a radical future shift towards non-viral vectors. A related problem is how to achieve gene expression, and often at a specific place in the body but not anywhere else. This is called the ‘specificity’ of gene therapy. Another frequently mentioned problem is that of gene-regulation. “Gene-regulation is another problem. For a number of genes, it will be important to reach a certain level of expression and then to switch on and off. Insuline is an example. That’s very complicated to regulate. That’s the reason that a lot of people think that for congenital diseases, simple viral vectors will not be sufficient.” (interview Kenter) Non-technical barriers and uncertainties, public fears and public acceptance It is beyond doubt that the death of an 18-year old following a gene therapy experiment in the US last year has had a great impact on the field. The patient suffered from a serious non-curable liver disorder. Not only did all interviewees refer to the incident, it was clear they had all followed the case in the newspapers and scientific peer press and some had even attended the public hearings and been in close contact with the FDA. However, interviewees differed in their assessment of how much impact the incident had on the Dutch debates and acceptability of gene therapy. While some claimed gene therapy by and large would undergo a draw back from this incident, others felt the Dutch research on gene therapy was still too far removed from the general public’s mind to have a real impact on the local situation. However, there was general agreement that incidents like this should be avoided in order for gene therapy to get into the clinic at all.

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In general, many actors are very positive about the future public acceptance of gene therapy because the targets for gene therapy in many cases are diseases for which we have currently no alternative treatments. Gene therapy, in this view, is created as a last resort for people with non-treatable disorders – such as many cancer cases- for which treatment does not always offer a cure or a solution.

Disturbance factor Along with the shifting expectations and promises surrounding gene therapy research, the extent to which gene therapy is expected to change clinical practice is shifting as well. According to some, gene therapy will not so much replace existing treatment – such as radio- and chemotherapy – but will largely complement these treatments. In this view, gene therapy can only be helpful in combination with other technologies. Actors who discuss gene therapy as one possible technology or tool which might be supportive of other forms of treatment, also doubt whether ‘gene therapy’ really deserves the status of separate field and argue that current gene therapy application are not very different from research on viruses or from current drug treatments for example. Innovation Management Venture capital and private firms are driven by short-term return of investment, which makes the timeframe of innovation management very short. Furthermore, because of the transparency of the field (due to public patent positions), there is little requirement for extensive market research, because this would simply repeat the research being done by competitors. Introgene’s innovative strategy is not to follow the mainstream and to trust their own divergent vision (Brus, Introgene). New research ideas, generated in discussion, are explored on their viability and within 3 or 4 weeks time. Interestingly, a stock exchange quotation makes the timeframe for innovation management longer, because of the necessity to justify research policy to the annual stockholders meeting. Introgene initially began working on stem-cell research which they wanted to apply to gene therapy. However, after the success of the Per-C6 cell-line, the company abandoned its research on stem cells. The initial idea of becoming a gene therapy company changed. While Introgene had been set up as a gene therapy company – which also was in its name – it moved away from this single goal into a much broader range of activities. For example, the company now looks at protein and gene-expression models but also at the role of vaccines and the possible use of their technology for vaccines. Whilst it started of as a gene therapy company, it learned to follow its technology and not its originally envisaged aims. This technology was far more important than providing the whole spectrum of gene therapy, including clinical trials etc. The focus on platform technologies that can be used for different applications (both in therapy and as research tool) is also apparent at the AMT. Managing public acceptance Three different actors have responded to the U.S. gene therapy accident by altering their own behaviour: the regulatory body CCMO, the Dutch Association for Gene therapy and the university group of Smitt who were performing a trial with the same adenovirus. Immediately after the accident in the United States, the latter put their trial on hold. The CCMO did two things. First of all, it added a new rule to its protocols: all serious adverse events have to be reported to the CCMO. Secondly, it made the decision of the EUR to suspend their trial. Only when all the relevant information from the US had been seen and evaluated, the commission concluded the trial had not proven to be unsafe. Consequently, the EUR researchers were allowed to restart their trial again. The Dutch Association for Gene therapy responded to the accident by altering their already planned professional PR-campaign. Both the EUR researchers and the CCMO, immediately after the incident in the US, were overwhelmed with questions both from parliament and journalists. According to the actors involved, it was because both researchers and the CCMO – which had only recently been installed – reacted so rapidly, that public trust could easily be restored. Future Oriented Co-ordination Activities (FOCA) Although the future of the gene therapy research domain is discussed upon in different governmental/intermediary ‘verkenningen’ studies, they seem to have very little impact on configurational relations in the field. For example the Dutch Council for Scientific Research, sector

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medical science (NWO-MW) in its strategic planning document (1995, strategienota) defines gene therapy as one of many areas in which more research is necessary. It therefore recommends: “the further development of gene therapy for the treatment of - among other things –hereditary disorders (such as Cystic Fibrosis, coagulation or immunity disorders), the generation of a immune-response against tumors and the generation of pathogene-resistant cells” (NWO-MW, deel 1, p.73). The general impression is that relatively few of the interviewees are aware of any official Verkenningen such as RIVM, the Discipline-Advies Geneeskunde or the NWO strategic planning document. Furthermore researchers in gene therapy, say that in general NWO is not sponsoring much gene therapy research. So broad ‘foresight’ within intermediary organisations has little impact on either the knowledge or vision neither within the configuration, nor on sponsoring relations within the gene therapy field. However, the Health Council Report on Gene Therapy (1997) had far more impact. In October 1994, the minister of health asked for advice on the application of gene therapy. The commission came to the conclusion that the state of research is such that clinical application is still far ahead in the future and that regulation of application is not needed. Instead of recommendations for regulation concerning the application of gene therapy, the commission made recommendations for the development of gene therapy in the Netherlands. Recommendations include amongst other initiatives: more basic research, less clinical trials, assessment of gene therapy protocols by a central commission, clear definition of responsibilities and the building of a central production facility for vector production. Interestingly enough, the report mentions only in passing expectations regarding future developments in the field. Only one page of the 66 page report concerns “future prospects”, but it gives recommendations again, instead of future prospects. The paragraph is based on a NIH-report (1995). Main points are the recommendation to focus research on:

• the basic principles of gene-transfer and gene-expression • the molecular basis for the origin of diseases • the development of adequate animal models

Representing a broad range of both respected researchers (mostly professors) from different clinical disciplines as well as government officials, an ethicist and a professor in medical law, the Gene therapy committee wrote a report that is widely known within the gene therapy field and that has had considerable influence on its configurational relations. Following the committee’s recommendations, the CCMO now takes considerations on scientific quality into account in their assessment of gene therapy protocols. Furthermore the Dutch Association for Gene therapy uses the report in their lobby for a central production facility. The TNO-report ‘Assessment of Viability for a Central Production Facility’ can also be regarded as FOCA. Different techniques have been used in this assessment-report: different existing production facilities as well as initiatives in the Netherlands and abroad have been inventoried; some 30 experts from different constituencies have been consulted; and an assessment of different versions of a production facility has been made. During the research-period, an advisory panel, with experts from different constituencies has advised on the research during five plenary meetings. As for the Health committees report on gene therapy, the TNO-report does not take scientific expectations into account. In predicting the future demand for vectors, it simply extrapolates into the future and refers to some general developments like the Human Genome Project. The assumption is made that the demand for vectors will grow, although ‘uncertainty’ is also mentioned. When the TNO-report was presented to the ministry of health, the Dutch Association for Gene therapy took the opportunity to inform the ministry on gene therapy. Though formally, both the Gene therapy committee and the TNO-report are government initiatives, it is gene therapy researchers - as individuals or organised in the Association for Gene therapy research - that take a leading role in these studies, either as members of the committee, as consulted experts, or because they use the report to strengthen their own objectives. This seems to be one of the main reasons that both reports are widely known and as FOCA have an impact on relations within the gene therapy configuration. How big this impact will be in the end, remains to be seen. If the ministry of

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health decides to facilitate/finance a central production facility, this will strengthen binding rules, concentrate expertise, lessen resource dependency and so will make the overall configuration more close knit, than it was before. The most important knowledge sources for public researchers as well as for private firms, is what happens abroad, especially in the United States and particularly what the FDA does, and the scientific community – the literature, the web and personal contacts. Access to knowledge and information is not problematic, the field is said to be very transparent. See for an overview of FOCA-activities on the broader domain of genetics, the Dutch appendix on genetic diagnostics.

Summary of Base Data Sources The data set on which we have developed the Case Study of genetic therapy is drawn from a number of sources to include the core constituencies of interest in the field. The primary material is based on interviews with respondents from the following: Academic researchers: Prof. F. Grosveld (Cell Biology, Erasmus University Rotterdam) Prof. Dr. A. Berns (Molecular Genetics, Dutch Cancer Foundation (NKI), Amsterdam) Dr. P.A.T. Sillevis Smitt (Neuro Oncology, Erasmus University Rotterdam) Gene therapy association: Dr. W.Gerritsen (Dutch Society for Gene therapy (NVGT), medical oncology, Amsterdam Free University) Private companies: Ronald Brus (Introgene, Leiden) Dr. Bram Bout, (Introgene, Leiden) Dr. J.J.P. Kastelijn (Amsterdam Molecular Therapeutics (AMT), Genetics of Cardiovascular Diseases, University of Amsterdam) Foresight related: Prof. Dr. W.G. van Aken (Chair of the National Health Council Committee on Gene therapy, Central Laboratory for Blood-transfusion (CLB), Amsterdam) Regulation of clinical trials: Dr. M. Kenter (Central Commission for Research in Humans (CCMO), The Hague). In addition to these primary sources, a wide range of secondary sources were consulted relating specifically to gene therapy from medical, social science and policy-related journals. References Anderson, W. en R. Morgan (1993) Gentherapie bij de mens, in : Schellekens, H. ea.. De DNA-

makers, Maastricht: Natuur en Techniek Anoniem (1996) Human gene thereapy clinical trials in Europe. Hum Gene Ther, 7: 1258-1259. Cohen-Haguenauer, O. (1995) Overview of regulation of gene therapy in Europe: A current statement

including reference to US regulation, Hum Gene Ther 1995;6; 773-85. European Commission (1997) Gene Therapy. Current status in te European Union. European

Commission, Directorate General III-industry, III E—3 Pharmacuetical Products. Brussels, EC. Friedman, T. (1992) A brief history of gene therapy; Nature Genetics, 2: 93-98. Gezondheidsraad (1989), Erfelijkheid: wetenschap en maatschappij, over de mogelijkheden en

grenzen van erfelijkheidsdiagnostiek en gentherapie. ‘s Gravenhage: Staatsuitgeverij, Advies uitgebracht door een commissie van de Gezondheidsraad.

Gezondheidsraad : Commissie Gentherapie. Gentherapie‘; Gezondheidsraad, 1997, publicatie nr 1997/12

Hospers, G.A.P. en N.H.Mulder (1995) Het gebruik van genen bij de behandeling van Kanker, NTvG 139: 26, 1316 –1319.

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KNAW (1994) Discipline-Advies Geneeskunde, Mariman, E. (1994) Gentherapie gaat erfelijke ziektes te lijf, Chemisch magazine, 3, 104-106. Martin, P. (1998), 'From Eugenics to Therapeutics: the Impact of Opposition on the Development of

Gene Therapy in the USA', in Peter Wheale, Rene von Schomberg and Peter Glasner (eds.) The Social Management of Genetic Engineering, Ashgate Publishing Company, Aldershot.

Minister van Volksgezondheid, Welzijn en Sport. Brief aan de directies van de ziekenhuizen in Nederland inzake toetsing (gentherapeutisch) onderzoek. Kenmerk CSZ/ME 966311, d.d. 10 januari 1997.

Min. van EZ, Min. van LNV, Min. van LCW, Min. van VWS, Min. van VROM, Integrale Nota Biotechnologie, september 2000.

NWO-MW (1995) Strategienota 1996-2001. Deel 1 & 2. Soriano, Humberto, E. (1998) ‘Site-directed Gene Therapy: A Goal for the 21st Century’, Journal of

Pedatric Gastoentroerology and Nutrition, 26:482-485. TNO Preventie en Gezondheid (2000) Haalbaarheid Centrale Faciliteit voor Vectorproductie. Een

inventariserend onderzoek naar de oprichting van een centrale faciliteit voor de productie van klinisch proefmateriaal ten behoeve van gentherapieonderzoek en ander hoogwaardig biotechnologisch onderzoek. TNO-rapport PG/VGZ/2000.002.

Valerio, D et al. ‘Gentherapie’ cahier bio-wetenschappen en maatschappij, 1996, 18e jaargang, nr.3. Valerio, D. (1994) Gentherapie, Natuur en techniek, Maastricht. Valerio, D. Gentherapie: Van veelbeloven(d) naar werkelijkheid (universitaire rede). Leiden:

Rijksuniversiteit leiden.

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Electronic Patient Record (EPR) in Spain

A Case Study Construction of the EPR Configuration in Spain The actors that make up the EPR configuration include direct links established between firms, hospitals and public healthcare officials, while the role played by public/academic research groups is less direct in terms of technological adoption or implementation. The formal ties between actors is largely that of supplier and client, where the suppliers of the technologies are firms, and the clients are the hospitals, although within the hospitals there are many stakeholders involved and with healthcare officials mediating this interaction because they control the decision making process for purchasing new technology. The “client” in the case of EPR is much more complex and involves integrating needs/preferences of many actors.

Firms The development of electronic patient record systems involves a complex integration of often more than one firm in terms of technological development. This is evident because of the nature of the application which involves multimedia data, text files, etc. and indirectly involves a complex integration of electromedical devices as well as work stations, PCs and software systems. In Spain, firms working in areas related to healthcare informatics can actually be grouped in three categories: those that can be considered more “traditional” in nature, that is, medical informatics firms that provide software and services to the healthcare system; electromedical firms that have always been providers of equipment and devices to the healthcare sector but more recently have integrated information systems; finally the “new comers” comprised of telecommunication companies whom have no tradition whatsoever in the health sector but because of the technological opportunities and future developments in health ICT they have shown interest. The firms in Spain that work in the health information technology sector range from multinationals, mostly of US origin such as Hewlett Packard and SMS to small specialised firms that provide software systems for niche markets such as Internet services, web pages for medical associations, software providers of pharmaceuticals management within hospitals, etc. Both Hewlett Packard and SMS among others have developed EPR software now in use in some Spanish hospitals (working in collaboration with other firms such as GE Medical or Phillips and local SMEs). In order to develop a hospital information system (HIS) which is the first step towards an integrated information system within a hospital it is very important to establish formal collaborations because because HIS involves customised adoptions for these systems and also because public bids often include various requirements which can only be met by more than one. Among the firms interviewed we found both medical professionals with competencies in informatics as well as telecommunications engineers with experience in the health sector working together. In the cases where firms were too small to have personnel with medical backgrounds, they used expert committees of doctors (direct contacts) for advisory purposes. The reasoning behind this need for expert opinion and advice was because the firms felt that it is not the same to develop ICT systems for hospitals as it is for banking, for example. One actor described a hospital operates "like a hotel, a catering service, a laboratory, a firm, etc, it’s more than just healing people”. Interestingly enough, one of the main innovation management needs expressed by the firms was exactly that, the lack of human resources, especially those whom are familiar with the healthcare sector (medical or biological backgrounds) that also have training and skill in telecommunication and information technologies. Their innovation management resource needs focused mostly on this aspect, the human factor, and less so on financial, technical or knowledge needs (although it was recognised that these are all closely tied together). Hospitals In Spain, information systems in the health sector have evolved from more administrative and managerial hospitals systems to include more clinical and diagnostic facilities. This has its origins in the idea that health informatics can no longer be considered a tool that simply permits improved

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organisation for optimising resources, improved storage and scheduling, etc. but rather a strategic element that is essential for increased quality in the overall patient care service and provision. Consequently, informatics is evolving from isolated computer applications within a hospital unit, to integrated information technology systems throughout the healthcare service (intra-net systems within healthcare services). As a consequence of this evolution, decision-making mechanisms for the use and implementation of health informatics in Spain has changed considerably. Initially, various hospital services or departments - and later hospital directors - made decisions on what health informatics systems were needed,. Currently, most decisions are made at the centralised level, that is, by the various regional health care services (INSALUD or the other seven regional health care services in Spain)22. Furthermore this has implied organisational changes in the structure of the healthcare service as well as hospitals themselves. Various healthcare services in Spain have set up health informatics administrative departments or units head by usually medical doctors with informatics backgrounds. Informatics departments are responsible for the planning and strategic decisions in relation to informatics in order to address the needs and demands of the various regional healthcare systems. They often develop plans for implementation and adoption of the informatics systems for hospitals and primary care. In addition, major hospitals have contracted specialised personnel to address these issues. However, even though structural changes have occurred, it has not affected the relationship between suppliers of technology (firms) and consumers to a great extent. Although decisions are made at such a centralised level, firms must still approach individual hospitals to present new technologies and use bottom up sales strategies before getting approval to enter the public healthcare system. The first generalised efforts in Spain to adopt health care informatics hospitals in Spain, was made in 1989 through a government initiative called the Dotacación de Informática para Asistencia Sanitaria (DIAS) project (information technology systems for patient care). This moment can be considered the origins of the medical informatics for Spanish hospitals, in which the government made a conscious effort to install information and communication technology systems. Currently most of the INSALUD hospitals have improved their HIS systems. These systems actually are the first of several building blocks for later technological advances towards EPR. The innovation strategies of firms in Spain have been to develop a modular system, that is components that can be built on or added to once the main infrastructure is set up. This offers many advantages and allows for customisation. As for specific initiatives in EPR there are examples such as the two new hospitals (created in 1997) that have advanced informatics systems. These are the Hospital Foundation Alcorcón in Madrid (a public foundation) and the Hospital de la Ribera de Alzira in Valencia (private management for public service) both of which claim to be “paperless” hospitals. The Foundation Alcorcón not only has an advanced HIS, but also an integrated departmental clinical system that includes an on-line electronic patient record and full digital diagnostics. In addition, it runs a day hospital system. These applications are advanced tools to facilitate the access to information by doctors for diagnosis and clinical treatment, which applies to all services of the hospital in a completely integrated system. The Hospital de Alzira, in addition to integrated HIS and EPR systems for clinical and diagnostic purposes, it has a fully implemented and functioning digital multimedia archiving system. This implies that all diagnostics are digitalised directly and do not need any other hard copy support, that is all X-rays, electrocardiograms, ultrasounds, endoscopic videos, etc. do not need physical support because they are forwarded directly into files. Besides these two new hospitals, there are others which have adopted EPR systems in other parts of Spain, partially eliminating the physical paper support for patient records. Additionally, there are some hospitals that have set departments and which are exclusively dedicated to research contracting primarily telecommunications engineers. These engineers serve as a support group to conduct pilot projects in telemedicine or develop sophisticated software systems with the aim of solving specific

22 Spain has a decentralized national healthcare service that includes INSALUD (which is the largest and covers 10 regions) plus 7 other regional healthcare services.

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problems in other medical areas. Examples include teledermatogoy pilot projects, telecardiology, neurological among others. Our interviews with respondents in hospitals included, a research department director and the head of informatics department. Both these positions are quite unique in Spanish hospitals, because rarely there are departments which dedicate 100% of their time for research activities (they are not involved in patient care) and also rarely there is a whole department structured around informatics (usually its just one person). Public management organisations Regulation and data protection in relation to patient data are controlled by the Data Protection Agency and administrative departments within the Ministry of Health, such has the Sub-Directorate General for Information Technology Systems. In addition, at the level of healthcare service, the INSALUD has an Organisation and Planning Department which co-ordinates and manages issues related to the application of new technologies in the healthcare service. These administrative bodies play an important role in the adoption and implementation of EPR systems, and when interviewed, they were very optimistic about the development of these systems in Spanish hospitals. There are also medical technology evaluation agencies that are consultative and advisory bodies which produce periodic reports evaluating and assessing new medical technologies. Currently, there are three agencies in Spain, the National Medical Technology Evaluation Agency23 and two regional agencies, one for the Catalonian Healthcare Service (Barcelona) and one for the Andalusian Healthcare Service (Seville). The relationship between the public healthcare service and these agencies however has been characterised as an instrumentalisation for cost containment concerns that public officials have due to the increasing costs of medical technology (especially in the case of a “negative” report for a new technology). Public research organisations and universities The are several research organisations and university groups which develop software systems for medical professionals and develop new technologies in health informatics. The groups range from those who are very international, that is, are highly involved in European Union funded research project working with other university groups or hospitals abroad, to those who are locally focused and whose main concern is to work with closely with clinical staff in resolving problems of information management, knowledge sourcing, etc. by developing software programs (decision support systems, access to data bases, medical protocol guides, etc.), training courses, and information dissemination. Some groups are linked to the Telecommunications faculties (those which have a more telemedicine or bioengineering focus) and those linked to Informatics faculties and/or artificial intelligence departments, for example the Medical Informatics Group of the Polytechnic University of Madrid develops software to solve data management problems for medical professionals. Many of the directors of these groups have combined backgrounds in both informatics and medicine. As other research groups in Spain, they are highly dependent on public funding. Of the groups interviewed, their scenarios for future development include paperless hospitals as well as robotic and electronically integrated operating facilities. EPR was seen as an essential system not only to integrate the healthcare service but also as a means to obtain valuable information for research and development (epidemiological studies, public health, etc.). Discussion of the sector dynamics within the configuration:

Expectations in health informatics The most notable result found in our analysis was the convergence in expectations centred on the development of EPR. The majority of the actors interviewed in some context mentioned the importance for the future development of EPR systems in Spanish healthcare service. The organisational structure of the Spanish healthcare system is very atomised (INSALUD plus 7 other services) and although our study focused on INSALUD region, it can be characterised like the other services, by a lack of connection between general practitioners that work in public primary care

23 This national level agency is within the Carlos III Health Institute which is directly linked to the Ministry of Health.

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centres and medical professionals working in hospitals. Some of the main deficiencies include the lack of co-ordination within the system (repetition, overload, etc), not all services are available everywhere and the population density is very low in some areas, etc. In the past, the main focus of modernising the healthcare system has been directed to hospitals24, however, currently this is changing and more money is being put into the primary care centres. Most people mentioned that what is most important is the need to connect primary and secondary care, and they see the future moving towards a more integrated system, in particular through the use of telemedicine (teleradiology, telediagnostics) and the use of an interoperatable electronic patient record. It was characterised as an Intranet of the various primary healthcare centres and their corresponding hospitals, but eventually that the intercommunication should exist between and among hospitals. The issues were interoperatability and unified (however no respondents made reference to a national level EPR but, rather, emphasis was placed on EPR within the healthcare service). One envisaged scenario foresees imaging and electro-medical devices forming part of the inter-communicable information systems.

Innovation management Our study addresses two levels of analysis with respect to innovation management, organisational level (within the organisations or groups) and the inter-organisational level (between the organisations or groups). At the organisational level, we looked at those techniques, skills and capacities related to managing innovation. Here our study shows that most actors use knowledge sourcing techniques for obtaining new ideas, for learning about new technology (through technical journals, Internet, etc.) as well through contacts of experts in seminars and conferences. Innovation management approached in large firms also included market and prospective studies, which in many cases would come directly from the corporate headquarters (outside of Spain). Public actors used strategic plans to define priorities for periods of time (1 year, 4 year plans) and to co-ordinate their activities. Research groups managed innovation by exploiting their capacities but also by exploring new ideas (although these are often restricted to the availability of public funding). In that sense, priority setting in RTD depends more on those defined by the funding agencies. As for hospitals, in many cases they needed to establish formalised practices for innovation management, especially with regards to the future development of information systems. In particular, in the development and definition process involved in creating new hospitals (Hospital Foundation Alcorcón and Hospital de la Ribera), there where groups of actors - public officials, firms and medical professionals – would have to engage in practices whereby various preferences and expectations would be defined and aligned. Innovation management at the systemic level, which is between organisations, is where we find more room for foresight type activities to co-ordinate innovation actors in the field. Our results show that most of these types of activities are organised by the Spanish Society for Health Informatics (SEIS) (see discussion below). One of the key factors for innovation management are the available resources. Our study shows that most actors identify the lack of human resources as the main innovation management need. Also financial resources were considered important (although that is closely linked to the first one), especially in the case of academic research groups who are highly dependent on external and competitive sources of funding to function. Barriers It is very evident that HIS (hospital information systems) changes in many ways the manner in which doctors, nurses and other professionals in the hospital work and this is exactly the problem. In general, interviewees reported that that there is also a lack of organisation within the hospitals, and lack of co-ordination among the various service units. Another barrier to the future development of EPR perceived by those addressed in this study was the lack of training of healthcare professionals in informatics (although of course there are many exceptions, especially amongst the younger

24 Such as the DIAS Project

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generation), and their resistance to change their work practices (this ties directly to pressures that come from labour unions which are quite strong in this sector). Another important barrier are budgetary constraints where hospitals have very little freedom for purchase and where there is very little money dedicated to new technologies. A lack of criteria for decision making contributes to the bureaucracy complexity involved in purchasing and introducing new technologies into the healthcare system. Other barriers include legal and ethical aspects (data protection and ownership of the information). There has been recent discussion on the ownership of patient records and whether these could or could not be managed by outsourcing services or external companies, like other areas such as catering. Overall, many considered that there is a lack of prospective vision, a lack of leadership in this sector in Spain that has a “global view” of how things should be and how to achieve these goals.

Future oriented co-ordination activities (FOCA) With respect to individual actors (firms, hospitals, public/academic research centres and public healthcare officials) we can identify some examples of organisational future oriented co-ordination activities (FOCA). In the case of the firms there are no formal FOCA activities, although in the large multinationals market studies could be considered as such. Personal experience and knowledge of the sector is more usually how firms define their innovation strategies, especially SMEs, and they depend in internal human resources and contacts with their clients. For public/academic researchers, FOCA consists of developing pilot projects with which to co-ordinate diverse actors. One example would is a project called PISTA25, a pilot project to co-ordinate initiatives in various regional healthcare services in terms of standardising and integrating healthcare information, which covers genetic information, laboratory services, epidemiological data among other areas. In general, we must note that in most cases the R&D priorities of public and academic researchers are conditioned by available funding from external sources. For public officials, FOCA activities consist of defining a strategic plan which set the priorities for their actions. These plans often involve an informal consultation process of experts and academics. For example the most recent strategic plan by INSALUD was related to telemedical applications. Limited FOCA activities are undertaken in hospital environments. Again the exception would be what we mentioned earlier in the case of the construction of new hospitals where diverse actors (firms, medical professionals and public healthcare officials) meet and establish consensus. Nevertheless, a very dynamic FOCA activity occurs among different types of actors centred around the Spanish Society of Health Informatics (SEIS) whose executive committee includes medical doctors in hospitals and public researchers from both public research centres and universities. The mission of the SEIS association is to encourage the utilisation of informatics in the area of medicine and health by promoting advances and research in this area. The SEIS publishes bimonthly I+S Informática y Salud (Informatics and Health), a magazine aimed at medical professionals that serves to diffuse information of relative importance on health informatics. It organises biannually two important conventions (INFOMED and INFOSALUD) bringing together those involved with health informatics. INFOMED targets mainly doctors with some emphasis on firms, and concentrates on areas of informatics relevant to diagnostics, hospital administration and management, patient care, etc. INFOSALUD is more general (salud means health) and is directed to all health care professionals, and covers the much wider area of ‘health’ (consumer information, pharmaceuticals, education and training, etc).

25 Pilot Intranet Applications for Public Health, See www.isciii.es/unidad/DG/Biotic/ for information regarding this project.

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However, SEIS also organises conventions which are more focused such as INFOFARMA for the pharmaceutical industry and INFOENFERMERIA for nursing. SEIS also organises annual debates on the future of a specific issue, for example the role of hospital information systems in hospitals of the year 2002. 26 The aspects covered include current obstacles impeding change, future major impacts that are expected or desired in specific areas, all of which involve considerable R&D activity in respect to ICTs. Formality of a set of actors

Hospital based systems important in setting requirements for HIS, EPR and telemedicine

Large firms main players implementing HIS Binding rules Recent regulation on data protection and confidentiality

Supplier – client relations Resource Dependencies

INSALUD power brokerage for HIS in both primary and secondary care RTD actors depend on government / public research funding

Durability of relationships

Long term R&D relationships between public research actors FOCA built around SEIS

Brief discussion of base data The electronic patient record (EPR) includes a wide range of knowledge producers, technology developers / adapters and users of health informatics. The actors identified for this study included firms, hospitals, public administrators and public/academic researchers related to the field of health informatics. Face to face interviews were conducted using the project’s interview protocol, however slight modifications were made depending on the type actor as well as the addition of some questions to cover country specific issues. As could be expected, and due to the small size of the knowledge and technology producers there are some shared aspects with the Telemedicine configuration (see Telemedicine Appendix). Secondary resources included documentation as well as attendance to seminars / conferences and workshops on related topics. An interesting point to note is that our intervention in this sector (through the contacts made by the interviews and the attendance to conferences) sparked interest with respect to the type of study we were conducting in the sector. Interviews (Telemedicine and EPR)

Firms Data General: Antonio Alonso. Medical Director of the Health Division. Fundación AIRTEL: Rafael Lamas, Technical Director. GE Medical Systems: Alfonso Martínez, Sales representative for PAC and RIS. Hewlett Packard: Juan Pablo Rubio, Director of Healthcare Information Systems and Enrique Povo. Landtools: Jorge Morillo, Sales Director. Microsoft: Santiago Lorente, Marketing Director for Vertical Markets SMS: Francisco Morillo. Sales Director. Softmed: Simón Viñals. Development Department Director. Trantor: Jose Gil Verdú Stacks Consulting. Jose Manuel. Area Director. Research Organisations and Universities Bioinformatics Unit, Carlos III Heath Institute: Fernando Martin, Director Carlos III Heath Institute: Jose Luis Monteagudo, Head of International Projects Area and Coordinator of the Health Telematics Research Group.

26 Informes SEIS (1998): El Papel de los Servicios de Informática en los Hospitales del Año 2002.

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Healthcare Services Unit, Carlos III Heath Institute: Pablo Lazaro, Director IMIM (Municipal Institute for Medical Research): Fernando Sanz and Carlos Díaz. Dr. Sanz is the head of the medical informatics research group National Healthcare Information Center, Carlos III Heath Institute: Luciano Saez, Director. Also President of the Spanish Society for Health Informatics (SEIS). Politechnical University of Madrid: Victor Maojo, Head of the Medical Informatics Group. University Complutense of Madrid: Enrique Gomez, Bioengineering and Telemedicine Group. Hospitals Hospital Puerta de Hierro: Dr. Carlos Hernández, Head of the Engineering and Telemedicine Laboratory. Hospital Fundación Alcorcón (FHA): Angel Blanco, Head of Informatics Department. Hospital La Paz. Salvador Arribas.

Public organisations and Management bodies INSALUD, Directorate General of Communication and Planning: Dr. Tomás Tenza. Healthcare Department Madrid (Conserjería de Salud, Comunidad de Madrid): Juan José Bestard. INSALUD, Sub-directorate General for Informatics: Carlos Garcia Codina. CDTI (Center for Industrial and Technological Development): Jose Luis Fidalgo. Department of European Union Programs and Spanish representative in the Management Committee of the Information Society Program. CDTI (Center for Industrial and Technological Development) Agustin Morales. Director of Information Technologies Department. National Health Technology Evaluation Agency. Jose L. Olasagasti. Director Medical Technnology Evaluation Agency (Catalonian Healthcare Service). Joan Pons and Caridad Almazan. Seminars / Workshops Information Technologies: Impact on the Health Policy and Management for the XXI Century. Foundation Sanitas. October 7, 1999 II Forum International on Healthcare Serivces in the Information Society. Foundation EPES. October 27-29, 1999 The Hospital of the Third Millenieum. November 11, 1999. Health Sciences Foundation. Telemedicine Forum. Fundation Health, Innovation and Society. Oct. 27, 2000 National Workshop on Internet and Health, SEIS: April 5-7, 2000 Secondary Literature Varous secondary literature was consulted to support the data such as: Reports produced by the Spanish Society of Health Informatics (SEIS) including "The Role of ICT in Primary Care" among others; various issues of the Journal Informática y Salud (Informatics and Health) Numbers 16-27 (from June 1998 - to Oct. 2000); Spanish Report on the "Promotion Stategy for European Electronic Healthcare Records" (PROREC - Spain); Various papers from different authors presented to INFOSALUD 1999, INFOMED 1998 (organized by SEIS), Telemedicine Plan of INSALUD (2000), etc.

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Telemedicine in Spain

A Case Study Construction of the telemedicine configuration of actors Firms The main actors of the telemedicine configuration are firms and hospitals, although there are important research groups engaged in research and technological development (including pilot projects often in collaboration with firms) in the area of telematics (what these groups preferred to call ICT applied to health). Accordingly, one evident type of relationship and interaction that exists among these actors in the health informatics sector is that of suppliers and clients. We see that firms are providers of health related ICT products and services for public healthcare system, where their focus lies in commercialisation and marketing, giving less attention to research and development. These products and services are mainly commercialised to hospitals, or more specifically hospital department/units (such as radiology, cardiology, etc. or services such as emergencies). In addition however, the INSALUD27 has been recently making investments in telemedical applications for primary care28. We cannot really characterise any of the firms in Spain as exclusively telemedical, although we can group the firms according to their telematic market applications. First of all, there are the large multinational subsidiaries which are either suppliers of electromedical technology, especially diagnostic imaging (i.e. Philips, Siemens and GE Medical) or providers of hardware/software technology (e.g. Hewlett Packard, SMS, Data General, Bull). Next are those smaller and medium size firms (mainly Spanish owned) specialising in developing specific customised products/services and engineered systems (e.g. Ibermática, SEMA group, Sadiel, among others). The "newcomers" to the sector, include the telecommunications companies such as Airtel and Telefónica (a Spanish telecommunications multinational) that provide services and technological infrastructure but also, because of their capacity to make large investments are also involved in RTD to find new applications (such as the use of mobile phone technology for health data transmission - a new "tool" for patients/doctors). Public research organisations and universities Public research organisations and academic research groups are linked to firms through telemedical pilot projects. They conduct technological development studies and pilot projects that are financed through public funds such as the National R&D Plan, FIS (Health Research Fund) and the EU Framework Program. In some cases, these pilot projects are converted or adopted into actual telemedical systems to be commercialised by firms whom have also contributed to the development phase. There are several important research groups in Spain, actively concerned with the RTD of telematic applications for the health sector. In Barcelona, the IMIM (Municipal Institute for Medical Research) has been involved in health informatics and the development of telematic applications particularly in relation to pharmaceuticals and citizen information systems. In Madrid there are two research groups in telemedicine, the Bioengineering and Telemedicine Group of the University of Madrid and the Health Telematics Research Department within the Carlos III Health Institute. These groups have been highly involved in technological development pilot projects testing new developments in telemedicine (the areas of emergency, home testing, home monitoring, mobile phone applications for health) and in many cases as the co-ordinating partner of these projects with other research groups and firms.

27 INSALUD is the largest regional healthcare service in Spain that provides assistance to the population in 10 regions in Spain; the rest of the 7 regions have competencies in healthcare and have set up their own healthcare services. 28 Plan de Telemedicina del INSALUD (2000) Telemedicine projects which connects various hospitals with their primary healthcare centers in Madrid, Santander, Ibiza, Zaragoza and others to include imaging and patient care management.

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Public healthcare service and intermediate organisations Most actors, because of this purchaser / supplier relationship, recognised that the INSALUD (and other regional healthcare services) are the key players for the development in terms of adoption and diffusion of technology. Consequently, because the public healthcare sector is very large, the firms' strategies and their dedication to innovation depend directly on public expenditures in healthcare, which are budgets decided on an annual basis. The private healthcare sector, although it is much smaller compared to the public sector, have more flexible purchasing systems and private hospitals have recently been increasing their investments in medical information and communication technologies, especially in renovating hospital information systems (HIS)29 and also the newly created public/private high technology hospitals. Nonetheless, as already mentioned, firms play an important role in the development of the sector. A few actors went as far as characterising the relationship more forcefully indicating that firms actually "create the demands and the needs (of hospitals) as well as providing them with the solutions." In general however, most actors expressed the view that even though Spanish hospitals have been late comers with these technologies, today many of them are equally or some even more technologically advanced as other hospitals in Europe. Most of the regional healthcare services (INSALUD and the others) have a department for co-ordination and planning related to the application of ICT technologies in the healthcare system. In INSALUD for example, decision-making has changed from being in the hands of individual hospitals to centralised decision making departments at the administrative level. This has evolved in that manner because the investments have grown in importance. In the period 1993-1996 the total expenditure in INSALUD for ICT technology in healthcare was 317 million Euros, while for 1997-2000 this amount reached over 18000 million Euros. The interactions that public officials have within the configuration are linked directly to the fact that they must be constantly informed of the needs and demands that the system requires as well as the state of the art of technology. Public officials, in order to be better informed depend on external knowledge sourcing to help in their decision making process. Much of their interaction is informal in nature, that is, through personal contacts in meetings, seminars, congresses, workshops etc. However, directly linked to the public officials are a small set of intermediaries organisations and agencies that influence the purchaser supplier relationship, that is, they play a considerable role in the decision making process for new technology acquisition. These organisations include on one hand, the consulting firms (Arthur Andersen, Price Waterhouse, etc.) as well as health related foundations (such as Foundation Health, Innovation and Society or the Health Sciences Foundation) serving as advisory bodies to the public administration and healthcare officials. These intermediary bodies often commission studies, evaluations or organise workshops in order to discuss issues of concern. On the other hand, there are the medical technology evaluation agencies that produce reports evaluating and assessing new medical technologies. The mission of these agencies is clearly to be consultative and advisory bodies towards the healthcare service. However, some have argued or fear that these agencies may develop into an instrumentalisation for cost contention concerns that public officials have due to the increasing costs of medical technology. Currently, there are three agencies in Spain, the National Medical Technology Evaluation Agency30 and two regional agencies, one for the Catalonian Healthcare Service (Barcelona) and one for the Andalusian Healthcare Service (Seville). It is interesting to note that some actors in hospitals or belonging to the healthcare system management bodies felt that the applications of health informatics in the future should be aimed at reducing/controlling healthcare costs by improving efficiency and productivity through benchmarking, use of decision support systems and medical practice protocol guides, and in that manner improved patient care would be achieved.

29 Hospital Information System (HIS) refers to the basic administrative functions in hospitals such as admissions, personnel /payroll, supply stock / storage , accounting / budgets, outpatient, filing of patient records, etc. 30 This national level agency is within the Carlos III Health Institute which is directly linked to the Ministry of Health.

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Discussion of the sector dynamics within the configuration: S&T development and characterisation of telemedicine The first generalised efforts in Spain to adopt health care informatics hospitals, was made in 1989 through a government initiative called the Dotacación de Informática para Asistencia Sanitaria (DIAS) project (information technology systems for patient care). This moment can be considered as the origins of the medical informatics, in which the government made a conscious effort to adopt information and communication technology systems for Spanish hospitals. The leader of this project was Hewlett Packard (in collaboration with other firms) and the main objective was to install HIS systems in all of the INSALUD hospitals (over 80). Based on the interviews, we found that firms in general characterise the market growth in Spain as progressive, but with a recent boom because of more investment in this sector on behalf of INSALUD. They established the DIAS project as pioneer and considered it a successful impulse to stimulate growth in sector, however the technology used (10 years ago) now needs to be renovated. The RENOVA project currently being implemented in INSALUD hospital consists of exactly this, renovating the HIS systems and the addition of new applications31. In particular, there are several initiatives being undertaken by INSALUD that use telemedical related technologies32. First of all there is a co-operative communications network being set up for all the primary and secondary centres for information at a general level (e-mail, information transmission, etc.) and in some cases for telemedicine (primarily image transmission for diagnostics). In addition there is a Customer Service Group that resolves problems for users 24 hours per day. Currently, 44 specialists plus 53 support staff are contracted to provide this service. The Digitalis project which involves a statistical database to improve the control and monitoring of pharmaceuticals within the public healthcare system. Finally, Telemedicina (telemedicine) project that involves Hospital Foundation Alcorcón in Madrid and its dependent primary care centres. It involves applications such as teleradiology, telediagnostics, shared patient record access and electronic laboratory analysis petitioning, among other applications. Nonetheless, some of the actors interviewed were somewhat critical with respect to the telemedicine exercises that have been developed in the past in Spanish hospitals. They characterised telemedicine as a "bunch of unsuccessful experiments" which have died because of the lack of interest, lack of funding and ultimately unsuccessful in delivering real solutions. The point was made that in many cases the telemedical systems have been adopted with a lack of definition of an actual need or providing a real solution to a problem. Although there was some criticism made, it also mentioned that there are exceptions and that there are some successful working telemedical systems. Overall, the problem is not the application or the technology but rather the correct use that it is given and whether there is a real need. Expectations and barriers for future developments We found that among the actors interviewed there was general agreement that the future for the Spanish healthcare systems lies in linking primary and secondary care, that is primary clinical centres (general practitioners) with hospitals (specialised patient care). The need lies in bridging the gap between the services that are interrelated but currently function relatively independent from each other. General practitioners work in public healthcare centres, and these are grouped geographically and linked to a main hospital. However, the main problem for the overall system is cost containment, due to excessive pharmaceutical expenditures but also because of inefficiencies in the connection between primary and secondary care (repetition, overload, etc.). Therefore, it is evident that the speed of development and implementation of new technology will be dependent on these factors. Firms see the development of the healthcare sector as moving towards a more integrated information system, especially between primary and secondary care in particular through the use of telemedicine (teleradiology, telediagnostics, etc.) and the use of an interoperatable electronic patient record. They see the healthcare sector as an intranet of the various primary healthcare centres and their

31 These include among other applications related to management of nursing units, discharge reports, radiology, pharmaceuticals, etc. 32 Plan de Telemedicina de INSALUD (2000)

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corresponding hospitals, but eventually the intercommunication should exist between and among hospitals (no mention was ever made that the intercommunication should take place at a national level, that is between the various independent regional healthcare services). In addition, we could also see that in the area of customised products and services (software, services, engineered systems), many interviewees considered that there was a great potential for growth in this market because of the opportunities available for SMEs. This contrasts with the more generic type developments in telemedicine that include hardware, equipment, infrastructure, etc. which are lead by the large multinational firms (whom locate their RTD centres in the home countries, in many cases USA). The main obstacle for these developments as perceived by actors (primarily the firms and R&D researchers) is the lack of training of healthcare professionals in the areas of information and communications technologies. They find that the medical professionals (e.g. doctors, nurses, technicians) are resistant to adopt these new systems, although of course, there are many exceptions, especially in the younger generation of doctors. The HIS (hospital information systems) change in many ways the manner in which doctors, nurses and other professionals in the hospital work and therefore that contributes to the problem, re-organisation is needed in the hospital in order for the HIS to function properly and be effective. Along these lines, resistance by labour unions of healthcare professional has been somewhat a problem due to their fear in how the introduction of new technology may affect the organisational structures and settings within hospitals. Another important barrier that was described included the fact that there are budgetary constraints where public hospitals have very little freedom of purchase, thus limiting the investments to be made in both systems and infrastructure. Very few actors interviewed identified the legal and ethical aspects (data protection, ownership of the information) as barriers for S&T development in telemedicine.

Innovation management There are two levels of analysis that are relevant in respect to innovation management. On one hand there is the organisational level, that is, those techniques, skills and capacities related to managing innovation within an organisation/firm/group. Here our study shows that most actors use knowledge sourcing techniques for obtaining new ideas, for learning about new technology (through technical journals, Internet, etc.) as well as through contacts of experts in seminars and conferences. More specifically we find that large firms conduct market and prospective studies, for managing innovation and co-ordinating activities, while public actors set up strategic plans that define priorities for periods of time and co-ordinate their activities accordingly. Research groups manage innovation by exploiting their capacities but also by exploring new ideas (although these are often restricted to the available public funding). In that sense, priority setting in RTD depends on public funding and the priorities set by the funding agencies. One the other hand, innovation management also occurs at the systemic level, that is between organisations. Here we find room for FOCA type activities, whose mission is to co-ordinate innovation actors in the field. Our results show that most of these types of activities are organised by the Spanish Society for Health Informatics (SEIS) (see discussion below). One of the key factors for innovation management is the availability of resources. Our study shows that most actors attribute the lack of human resources the main innovation management need. Also financial resources were considered important (although that is closely linked to the human factor), especially in the case of academic research groups whom are highly dependent on external and competitive sources of funding.

Future oriented co-ordination activities (FOCA) Future oriented co-ordination activities within the telemedicine configuration, at the inter-organisational level, centre around the Spanish Society of Health Informatics (SEIS) whose executive committee includes medical doctors in hospitals and public researchers from both public research centres and universities. The majority of the actors interviewed stated to be members of the association, either as individuals or institutional membership. The firms often sponsor the events organised and in some cases even present papers (which attempt to be academic and not mere marketing strategies).

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Although we mentioned earlier that dynamics of the configuration depended highly on the formal ties established by the supplier / client relationships and somewhat the collaborative research projects, what is very evident is the informal type relationship (friendships) which seem to have developed. Over time, within the last decade or so the same people have been involved, and the changes at most are from one firm to another firm, or from a hospital to public research institute. For example, telecommunications engineers who were directly involved in the implementation of the DIAS project in hospitals are now sales directors in firms, while others have positions as top level public officials directly involved in setting up the strategic plans for the new applications, or even have left the hospital settings to work in a public research centre directing research and technological development projects. The mission of the SEIS association is to encourage the utilisation of informatics in the area of medicine and health, and promoting the advances and research in this area. The SEIS publishes bimonthly I+S Informática y Salud (Informatics and Health), a magazine aimed at medical professionals and firms which serves to diffuse information of relative importance in the area of health informatics. It organises biannually two important conventions (INFOMED and INFOSALUD) which bring together those involved with health informatics. INFOMED is directed mainly to doctors (and firms), and concentrates on areas related to medical informatics (diagnostics, hospital administration and management, patient care, etc.). INFOSALUD is more general (salud means health) and is directed to all health care professionals, and covers the much wider area of ‘health’ (consumer information, pharmaceuticals, education and training, etc). However, SEIS also organises conventions which are more focused such as INFOFARMA for the pharmaceutical industry and INFOENFERMERIA for nursing. SEIS also organises annual debates on the future of a specific issue, for example the role of hospital information systems in hospitals of the year 2002. 33 The aspects covered include current obstacles which impede changes, future major impacts that are expected or desired in specific areas, and which ICTs (information and communication technologies) will be crucial to make them possible. Formality of a set of actors

Recent informatics implementation plan by INSALUD addressing both primary and secondary levels

Hospital based systems important in setting requirements for HIS, EPR and telemedicine

Telecommunication firms are newcomers

Binding rules

International standards adopted for Telemedical systems Spanish Society of Health Informatics (SEIS) key professional forum

Resource Dependencies

INSALUD power brokerage in both primary and secondary care RTD actors depend on government / public research funding

Durability of relationships

Long term R&D relationships between public research actors FOCA built around SEIS

33 Informes SEIS (1998): El Papel de los Servicios de Informática en los Hospitales del Año 2002.

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Brief discussion of base data A wide range of actors were identified based on of their direct or indirect relation to telemedicine, or more generally, to information and communication technologies (ICT) applied to the health sector as knowledge producers, as technology developers / adapters and as mere users. Consequently, as could be expected because of the nature of this technological area and due to the relatively small size of the knowledge and technology producers, we find overlapping with the EPR configuration in Spain (see EPR appendix) in terms of the actors contacted, the issues that have emerged and the general dynamics of the configuration34. The fieldwork was conducted through face to face interviews to actors representing the four basic types identified for this project: firms, hospitals, public administrators and public/academic researchers. Secondary resources included attendance to seminars, conferences and workshops on related topics, organised by private and public foundations or by the professional association Spanish Society of Health Informatics (SEIS). Finally, an interesting point to note is that our intervention in this sector (through the contacts made by the interviews and the attendance to conferences) sparked interest with respect to the type of study we were conducting in the sector. Many requested to be informed of the progress made and to be provided with follow-up information. For more detailed account of interviewees – see end of Spanish EPR case study.

34 See List of Interviews in Health Informatics in Spain following both appendices.

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Genetics Diagnostics and Gene Therapy In Spain A Case Study

Construction of the configuration

Genetic services The creation of the first genetic services in Spain can be traced to the middle of the 1960s, when certain Spanish clinical centres began to perform cytogenetic tests, principally aimed at diagnosing congenital defects and haematological disorders. Due to past policy initiatives35 in the late 1970s and mid-1980s, cytogenetic diagnostics and prenatal diagnostics are currently quite well consolidated with respect to technical and clinical standards. There are currently around 38 genetic units/centres performing diagnosis within public hospitals (INSALUD has 14 and the rest belong to the other regional healthcare service)36. Practically all units/centres report that they provide genetic counselling services, around 80% perform cytogenetic analysis for prenatal diagnosis and over 50% provide molecular diagnostics. Although prenatal diagnosis in Spain is technically well developed, with an adequate number of cytogeneticists and molecular laboratories available, the uneven distribution between regions is reflected in a different prevalence reduction of chromosomal disorders and congenital malformations. There is no national policy in PND or maternal serum screening for Down’s syndrome, only local policies. Neonatal screening for PKU and hypothyroidism covers practically 100% of the population, but the quality and availability of other genetic services varies from region to region. Nation-wide, a large range of pathologies are studied in the different units37 classified as: neurological pathologies38, haematological pathologies39, hereditary cancer40, metabolic pathologies41, and other pathologies42. Technological advances in molecular biology have been important in the general development of health care in Spain. During the second half of the 1980s, new DNA techniques for diagnosing monogenetic diseases (e.g. cystic fibrosis, myotonic dystrophy) began to be used.43 Currently, pre- and postnatal and presymptomatic testing and carrier detection for some hereditary disorders are available in some genetic units and centres. Experience of predictive testing for cancer is very limited. Recently, a few centres have begun providing predictive testing for breast and colon cancers to a limited number of families with documented family history, and who in most cases had been previously studied for research purposes. In general, cancer genetics is largely restricted to the diagnosis and prognosis of haematological disorders. However, the area of cancer has been greatly promoted by the recently created CNIO (National Oncological Research Centre).

35 National Plan for the Prevention of Mental Retardation (1977), the Prenatal Diagnosis of Chromosomal Disorders Program, the Pre-plan on Prenatal Diagnosis (PND) and the legalisation of therapeutic abortion (1985). 36 INSALUD is the largest regional healthcare service in Spain covering 10 regions (almost 40% of the population), while the other 7 regions have competencies in healthcare and have set up their own services. 37 Ramos-Arroyo, Benitez, and Estivill (1997), ‘Genetic Services in Spain’, European Journal of Human Genetics 5 (suppl 2): pp.163-168. 38 (i.e. Dominant Ataxias – SCA1, SCA2, SCA3; Muscular Spinal Atrophy; Myotonic Dystrophy; Duchenne Muscular Dystrophy; E. Huntington; Prader Willi Syndrome; Fragile X Syndrome; these are the more widely treated) 39 (Haemophilia A and B; E. Wisckott-Aldrich; Leukaemias; Talasemia α and β; Trombophilia), 40 (Breast Cancer -BCRA1 and BCRA2; Thyroid Marrow Cancer; E. Li-Fraumeni (p53); Family Feocromocitoma; Family Melanoma (p16); Multiple Endocrino Neoplasia MEM2A and MEM2B; Family Adenomatosa Poliposis 41 (Adrenoleucodistrophy linked to X; Acildeshidrogenasa deficit of medium chain; deficit of Gai-U-P-D transferasa; E. Gaucher; E. Hunter; Galactosemia; Pseudodeficit of Ariisufatasa A), collagen diseases (Ehier-Daniois; Imperfect Osteogenesis) 42 (Acondroplasia, Cystic Fibrosis; Cistinuria, Family Hypertension; Kidney Policystosis type 1; Rikets vitamin-D-resistant; Pigmentary Retinosis; Von Hipper Lindau). 43 Ramos-Arroyo, Benitez, and Estivill (1997), ‘Genetic Services in Spain’, European Journal of Human Genetics 5 (suppl 2): pp.163-168.

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Continued advances in genetic diagnosis for different pathologies have favoured intra-hospital relationships between geneticists and other medical specialists, mainly paediatricians, neurologists, haematologists and gynaecologists. These relationships extend, on occasions, to research: the planning and carrying out of joint projects requiring co-ordination and co-operation between medical professionals in hospitals. Unfortunately, co-ordination with primary care is practically non-existent. We found that links between researchers in genetics are not formally established among the various groups distributed throughout the country, but rather with other departments within the hospital setting. For example, one of the actors valued very positively the research collaboration that has been established with other hospital departments, such as gynaecology and pathological anatomy for work related to cervix cancer, and collaboration with the neurological department to do research on Lafora disease. The development of genetic services has been a continuous bottom-up process but has lacked strategic centralised planning within the healthcare services. Most units and centres have emerged as a specialisation within other medical fields, mainly: biochemistry, obstetrics, paediatrics, clinical pathology and haematology. The creation of genetic services have been due to key individuals with personal interest in promoting and pursuing research and development in genetic technology, there has been no health policy to support the creation of theses genetic services. Some of the leading hospitals with genetic research and genetic services include: Hospital Foundation Jimenez Díaz (Madrid), Hospital Ramon y Cajal (Madrid), Hospital 12 de Octubre (Madrid), Hospital Clínic (Barcelona), Hospital de Sant Pau (Barcelona), Hospital Reina Sofia (Cordoba), Hospital Virgen de las Nieves (Granada), Hospital La Fe (Valencia). Public research organisations and universities The researchers from public institutions, as in other fields in Spain, are highly dependent on public and competitive sources of funding for carrying out their R&D activities. The main sources of funding have been the National R&D Plan, the National Health Research Fund (FIS)44 or regional funds from the autonomous communities. It was noted that these researchers rarely seek funds from the European Union, although they may participate as partners in projects led by other foreign institutions but these funds are more for co-ordination type activities i.e. creation of networks, travel, exchange of researchers, etc but do not directly finance research (personnel, reagents, infrastructure, etc.). This was attributed to the difficulties in the accessing EU funds, due to the bureaucracy involved. There are some cases where groups seek funds by establishing small contracts with pharmaceutical firms and provide services to them. Research in genetic diagnostics and gene therapy form part of a wider range of molecular biology research and biotechnology that has growing importance in Spain. The quality of the research within the scientific community related to these fields is very high in terms of knowledge production. There are many institutions and research centres in which develop biotechnological research in areas that range from food and agriculture, to animal and human. Some of the main public research institutes /university departments that focus more particularly on human genetic research are located primarily in Madrid and Barcelona and include the following:

Centro de Biología Molecular Severo Ochoa (CBM) (CSIC) (Madrid) Severo Ochoa Molecular Biology Center which is linked to both the CSIC and the Autonomous University of Madrid. Centro de Investigaciones Biológicas (CIB) (CSIC) (Madrid) Biological Research Centre which is linked to the CSIC Centro Nacional de Biotecnología (CNB) (Madrid) National Centre of Biotechnology) Centro Nacional de Investigación Oncológica (CNIO) (Madrid) National Cancer Research Centre Instituto de Investigaciones Biomedicias (IIB) (Barcelona) Institute of Biomedicine of Barcelona (CSIC) Centro de Investigación y Desarrollo (CSIC) (Barcelona) Centre for Research and Development

44 Fondo de Investigaciones Sanitarias which belongs to the Carlos III Health Institute directly linked to the Ministry of Health.

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Centro de Genética Molecular y Medica (IR0) (Barcelona) Medical and Molecular Genetics Centre. Instituto Municipal de Investigación Médica (IMIM) (Barcelona) Municipal Institute for Medical Research linked to both the University Pompeu Fabra and the Municipal Institute for Health Assistance. University Autonomous of Madrid, Genetics and Biochemistry departments University of Barcelona, Microbiology, Genetics, Biochemistry and Molecular Biology departments University of Salamanca, Biochemical Microbiology department

The research groups in Spain are limited in number, but they have been successful in the past in obtaining recognition within the scientific community. When Severo Ochoa, a Spanish scientist, obtained to Nobel Prize in Medicine in the late 1950’s this later sparked policy initiatives to support research in the field such as creation of Molecular Biology Research Centre (CSIC45). These groups have been highly connected to the international community because specific training in genetics and molecular biology has been done in foreign countries, primarily USA and UK. As a result however, there is a great dependency on external (outside Spain) technology, that is techniques, skills and equipment for doing genetic research in Spain. Professional and patient associations There are several associations related to prenatal diagnostics: the Spanish Association of Prenatal Diagnosis, the Ultrasound Section of the Spanish Society of Gynaecology and Obstetrics, and the Spanish Society of Perinatal Medicine. The Spanish Association of Clinical Chemistry also includes professionals in human genetics. These scientific associations hold annual or biannual national scientific meetings covering specific aspects of prenatal diagnostics. In some regions there are also annual regional workshops for family doctors and nurses. There is one main professional organisation in human genetics: the Spanish Association of Human Genetics (AEGH). The AEGH organises a biannual conference, and in the intermediate years there is a meeting to update and address specific issues of concern. However, it is considered by some as a lobbying organisation to establish clinical genetics as a medical speciality and to establish standards to carry out genetic testing within laboratories, as opposed to a means of aggregating and enrolling different actors to co-ordinate activities. Its associates are mainly hospitals or clinical researchers, that are technically oriented, and members do not generally extend to public officials or firms. We should note that some contacts that were established included actors from the field of bioinformatics (as could be expected because of the close link with genetic research). Bioinformatics represents a bridge between health informatics and genetic research that consequently in modern molecular genetic research is an essential research tool. We found the use of bioinformatics is well extended in the area of genetic research, at least in the case of leading actors doing research in this field. Currently led by the CNB (National Biotechnology Centre) there is a Bioinformatics Network whose aim is to promote use and service as technical support to other groups. A number bioinformatic technical support units have been set up around Spain linked to either universities or research units. The number of genetic related patient organisations in Spain has significantly increased in recent years. Some are well organised and very active, their mission is information dissemination, to provide social support to those with these diseases, and in many cases provide samples and families for research. The main registered patient associations (related to genetic disorders) are: Down Syndrome, Prader-Willi, Cystic Fibrosis, Muscular Diseases, Retinitis Pigmentosa, Fragile X Syndrome, Cri Du Chat, Spina Bifida and Cancer. It is evident that the role played by patient associations in this field of genetics would be very critical, however, among some of the researchers interviewed they felt that patient associations should collaborate more directly by obtaining funds and financial resources for research.

45 Consejo Superior de Investigaciones Científicas the National Research Center of Spain comprised of over 100 institutes.

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Public debate is minimal and one interviewee stated that “a public debate is needed” while another went further to say “people should know the difference between human cloning and gene cloning.” In relation to the social and ethical aspects to genetic research one actor disagreed with current practices in indiscriminate screening where both prenatal and postnatal (of children and adults) are being practised. There is a risk of social discrimination and similar consequences especially in those cases where currently there is no cure / remedy.

Firms There is a small group of companies which have developed kits for genetic diagnostics of Hepatitis B (HBV) and C (HCV), Tuberculosis, Herpes and Cervical cancer, based on genome identification. These firms have supported their research through the financial support instruments provided by the CDTI (Centre for Technological and Industrial Development). Their main focus is on human pathogens and to some extent pharmacogenomics. The types of companies in Spain range from laboratories and SMEs which provide genetic services to both hospitals and pharmaceutical companies (Laboratorio Echeverne); firms that provide genetic services but also develop their own genetic kits (Pharma Gen and Ingenasa); and finally pharmaceutical subsidiaries of multinationals such as Smith Kline Beecham (which has a basic research centre in Madrid), Tecnicas Médicas Affymetrix (biochips), and Glaxo Wellcome but these large multinationals in most instances are strictly commercialising products. In Spain, although there are few firms related to biotechnology in general, recently there has been public initiatives (financial instruments) to promote the creation of new firms taking into account the well recognised level of qualified scientists (through the National R&D Plan). Specific priorities have been set as a strategic action within this plan in the areas of genomics and proteomics. However, there are still barriers to overcome, especially the labour relations between public researchers and private firms. Discussion of the sector dynamics within the configuration

S&T development and characterisation of genetic research Human genetics is a very recent and clinical area. It is an outcome of the latest developments of molecular genetics and molecular biology, and its clinical applications basically consist of screening of genetic diseases and of acquired genetic disorders, however, in Spain it has not yet been recognised as a separate medical discipline. Clinical connections constitute a condition for any research in human genetics (samples are needed) but the levels of commitment to genetic diagnostics varies somewhat. On one hand there are the research groups found in hospitals within genetic services that they have created and in return for the infrastructure and samples provided within the clinical setting they provide diagnostics service for the hospital (this occurs in the majority of the cases). However, there are some groups that obtain samples from hospitals or patient associations and do not provi de genetics diagnostics services. It is important to note that the innovative work of actors should be placed into context in order to understand the construction of the genetic technology configuration. The development of molecular biology has been quite unique compared other sciences in Spain. Early on, dependency on research taken abroad and the close ties with researchers working outside of Spain has played a fundamental role. Dr. Severo Ochoa, (Nobel Prize in Medicine, 1959) was a key actor in setting up the first public research centre in molecular biology, and the close connection with policy makers enabled the creation of a small group of researchers to gain funding and resources to set up research in genetic related areas at this time in Spain there were few programs and funding mechanisms for research. In the past, it was essential for researchers to travel abroad to be trained and to learn techniques for genetic research. These researchers would then need to find mechanisms to return to Spain and set up research departments/units to continue their research lines either within the clinical setting, university or public research centre (all civil servant positions). The same process continues to occur today although it is very difficult nowadays for researchers to return (due to the civil servant status of medical profession and researchers). Their incentives to return are minimum (due to lack of positions to return to).

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Accordingly, those who do return continue the research lines started elsewhere and thus depend highly on the technology from abroad. The result is isolated groups of good genetic research in which there are close links with researchers abroad but the connection within the country is minimum. There are some initiatives and attempts to mobilise and diffuse expectations that Spain can contribute to the advancement of knowledge in the field of genetics, that together they can have impact, these visions are created within the scientific community. The idea is to collaborate instead of compete (especially for funds). The configuration although has very loose ties, however there are some exceptions of close collaboration. We found that those academic genetic researchers using bioinformatic techniques do seem to establish contacts. These actors not only have created a network, but they come together organising seminars (actors mainly from Barcelona and Madrid) to discuss their work and collaborate (discussion and exchange of information, ideas, results, problems). They recently have proposed to create a Virtual Institute of Bioinformatics so that the collaboration also comes together at the research level (joint research projects). However, this has remained as a proposal and is pending actual materialisation. There are working plans within the Bioinformatics Unit of the Health Institute Carlos III to include genetic information within epidemiology and to establish a close collaboration between epidemiology and oncology. In particular a tissue bank has been created for research in the CNIO in collaboration with the Carlos III Health Institute. A specific field of interest for the present and near future lies in bioinformatics. The increasing amount of data generated by modern genomic research as well as the complex interactions between genetic and environmental factors in human disease has created the need to combine expertise in informatics and molecular biology. One actor claimed that in a similar study on gene identification, what took him two years in then past now only required 4 months time using bioinformatics tools. The National Research programs in Health and Biotechnology have provided support to a number of research groups in Spain. In addition these programs have promoted the creation of local, small sized facilities for technological support, mainly in sequencing, gentoyping, bioinformatics and computing. There are currently few initiatives for collaboration in terms of the production or development of new technologies in genome research. This is due to the lack of private interest and investment in these areas. From a strategic point of view, the future of genome research in Spain and its potential for international collaborations in this area of research will largely depend on the development of adequate facilities (improved infrastructure and equipment). During the last decade these has been a continuous increase in both the number of research projects and scientific production in Spain in the field of human molecular genetics. However, the position and recognition remains far behind its potential compared to other European countries. The future development in this sector and main interests lie in the areas of: diagnosis (DNA microchip technology and sequencing), informatics (software and database management) and the analysis of gene function. There is a general agreement among researchers and public health care officials that there is increasing importance to focus on the ethical , legal and social aspects of genetic research. However, although there are research groups whose interests lie in this area, there is no specific program or public initiative that addresses these issues, or guidelines to create committees to provide reference for these matters. Similarly, there is a need to consider and delineate instruments for issues relating to sequence data, patient samples and databases. Gene Therapy Academic researchers analyse gene therapy as a means of finding the practical ways of transferring genes to target issues and demonstrating the gene therapy model systems. These have been achieved by innovating in the selection and design of vectors to increase efficiency of gene transfer. The medical doctors share the same interests as the academics but in addition, they see gene therapy as a potential treatment for both genetic and acquired diseases. Doctors are concerned with the feasibility of applying gene therapy to particular clinical problems, its safety and how it can be incorporated into routine practice. The focus is on mainly on cancer but other diseases too. There are a number of gene therapy protocols currently in progress undertaken by Spanish groups.

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Gene therapy is considered a more long-term development since its medical applicability still needs to be developed. The main problem is lack of co-ordination and lack of funds for financing research. There is very little, if none, public debate concerning genetic technology research.

Genetic Diagnostics Prevention of genetic disorders is, in most regions, widely accepted, as indicated by the increasing demand for genetic counselling and testing. The number of cytogenetic analyses performed prenatally has significantly increased during the last 10 years. It can be estimated that approximately 15-20% of the total number of mothers at increased risk for Down Syndrome (35 years of age and older) receive fetal karyotyping. As is recognised by professionals, one of the main drawbacks for genetic services in Spain is the lack of official recognition of medical genetics as a profession (medical specialisation) within the health services. This has always been a negative factor in the development of the field, as it makes training of new professionals and their access to employment very difficult. The development of genetics in Spain can largely be attributed to the personal interest and motivation of a few medical and non-medical scientists who were able to get financial support mainly through research grants to implement genetic services and new diagnostic technology. Innovation Management and FOCA At the organisational level, innovation management includes practices and capacities within an research group or firm. Here our study shows that most actors use knowledge sourcing techniques for obtaining new ideas. Research groups manage innovation by exploiting their skills but also by exploring new ideas (although these are often restricted to the available public funding). Innovation management can also be viewed at the systemic level, that is, between organisations. Here we found few initiatives for future oriented co-ordination, unlike the SEIS (see EPR / Telemedicine configuration) the AEGH is represented by mainly clinical researchers and does not aggregate or enrol other actors. The main concern for innovation management of actors in our study lies in the lack of training of the professionals in the area of medical genetics because most formal training is obtained abroad. Another innovation management need as expressed by those in our study was related to obtaining financial resources for research. Because the funds are scarce, in relatively there is a lack of collaboration because actually the groups are competing for the limited resources. When asked about collaboration with patient organisations such as the Spanish Association of Cancer, the response was that collaboration is minimum and what the association should do in their opinion is obtain more resources and dedicate them for research. In general, there are no local FOCA activities, the sources of FOCA come from abroad especially through the links established by the research actors whom have close ties especially with UK and USA. Formality of a set of actors

Fragmented genetics constituency, strongest in pre-and post natal genetic diagnostics Multiple, specialist-based genetic practices; clinical genetics not recognised as medical profession

Binding rules

No health policy for co-ordination and planning for genetic services Specialist based genetics services created independently from healthcare policy

Resource Dependencies

Hospital and associated genetic centres key to ongoing support for genetic research RTD actors depend on government / public research funding

Durability of relationships

Networks built around Spanish Society for Human Genetics (AEGH) and Bioinformatics Network

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Brief discussion of base data The fieldwork in Spain was conducted through face-to-face interviews to actors representing public and academic researchers, hospitals and firms and contacts established with the public healthcare service. In this case study, we identified actors directly related to the field of genetics, especially in the case of researchers working in clinical settings or public research centres. Secondary resources included related publications and attendance to a few genetic research seminars. One of the main problems encountered in this case study was the lack of firms whom work in this area. Most pharmaceutical companies are mere distributors of products and services to the Spanish market, although there are few exceptions. Another problem was the lack of public co-ordination mechanisms, that is, the absence of a public administrative body for management, co-ordination or planning of the activities undertaken by the actors in the specific field of genetics. The Spanish FORMAKIN team would like to acknowledge and thank the collaboration of M.J. Santesmases a research fellow at the UPC who has done work in the area of human genetics.

INTERVIEWS Firms INGENASA: Carmen Vela Olmo. Pharma Gen. Carmen Cabrero. Laboratory technician Research Organisations and Universities Bioinformatics Unit, Carlos III Heath Institute: Fernando Martin, Director National Fundamental Biology Centre, Carlos III Health Institute. Cecilia Martín Bourgón. Department of Molecular Genetics, Centre for Biological Research, CSIC: Roberto Parrilla and Santiago Lamas Medical and Molecular Genetics Department (Oncological Research Centre - Barcelona) Xavier Estivill, Director (interviewed by M.J. Santesmases and Emilo Munoz) Institute of Biomedicine of Barcelona, CSIC: Angel Pestaña (interviewed by M.J. Santesmases) Bioinformatics Department, National Biotechnology Centre: Jose R. Valverde. Hospitals Hospital Foundation Jimenez Díaz. Santiago Rodriguez de Cordoba and Carmen Ayuso. Hospital Reina Sofia, Cordoba: Antonio Lopez Beltran (interview by M.J. Santesmases) Hospital Virgen de las Nieves, Granada: Federico Garrido (interviewed by M.J. Santesmases) Hospital La Fe, Valencia: Francisco Palau and Felix Prieto (interviewed by M.J. Santesmases) Public organisations and management bodies CDTI (Centre for Industrial and Technological Development): Nabil Khayyat. Head of agro-food and environmental technologies. CDTI (Centre for Industrial and Technological Development): German Rodriguez. Head of Chemical and Health Technologies. National R&D Plan. Miguel Angel Piris. Health Program. Health Research Fund (FIS) Daniel García Urra. Director of Promotion of Biomedical Research Office. Office of Science and Technology. OCYT. Quality of Life Area.

Seminars Setting priorities in Biomedical Research. University of Madrid and Carlos III Health Institute. July 6-10, 1998 European Biotechnology in the 21st Century Symposium organised by the Ministry of Industry, Carlos III Health Institute and the Foundation for the Promotion of Research. Oct. 21-22,

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1999. International Symposium: Food, Biotechnology and Quality of Life in the XXI Century. Foundation Ramon Areces. Nov. 16-17, 1999 International Symposium: Structure, Function and Evolution of Genomes, The New Genomic Era, Foundation Ramon Areces March, 30-31 2000 Human Genome: Genomics and Proteomics Bioinformatic Approaches" organised by Foundation of the University of Madrid, Aug.28 to Sept. 1, 2000 Secondary literature Gabarrón, J., Ramos, C. (1997) "Prenatal Diagnosis in Spain" European Journal of Human Genetics 5 (suppl 2): pp.64-69 Laredo, P (ed.) (1999) “The development of reproducible method for the characterisation of a large set of research collectives: a test on human genetics research in Europe.” TSER project. SOE1-CT96-1036. M. Ramos-Arroyo, J. Benitez, and X. Estivill (1997), ‘Genetic Services in Spain’, European Journal of Human Genetics 5 (suppl 2): pp.163-168. Martin, P. (1997) “Gene therapy and the move from science to technology.” PhD. Thesis. Santesmases, M.J., Díaz, V., Muñoz, E. (1998) “Confronting scientists’ interests and health objectives: the Spanish Medical Research Fund as a research programme, 1988-1995. Research Evaluation 7(3) pp. 179-185. Schimank, U and Winnes, M. (eds.) (1999) “Public sector research in Europe: comparative cases on the organisation of human genetics research”. TSER project. SOE1-CT96-1036

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The Electronic Patient Record in the UK A Case Study

Introduction In recent years, the Electronic Patient Record has taken central stage in discourse about new developments in the organisation and delivery of healthcare. In particular, the UK government’s White Paper, Information for Health: An information strategy for the NHS, 1998-2005, is dominated by reference to EPR and what steps should be taken towards its realisation. And yet, the White Paper pays scant attention to the specific characteristics of the UK health care context that should be taken into account in its practical deployment/development. In what follows, we will seek to flesh out some of these relatively unique domestic healthcare characteristics and the implications that they have had for the transfer of health practice into a more mobile electronic format. It is, we suggest, fair to say that whilst EPR is top of the UK healthcare reform agenda, it is at present far from realisable in practice given certain specific properties of UK healthcare organisation. Future Oriented Coordination Activity The conceptual scheme developed in the FORMAKIN project enables us to understand the dynamic relationship between a number of factors upon which the innovation agenda of EPR currently depends. This includes the kinds of expectations associated with EPR (and to whom these expectations are attributable) measured against estimates of the current organisational and technical stage of development. Not least, we contend, the forms of relationship that pertain between different healthcare actors (in respect to duration, formality and strength) have a determining value in shaping the form of EPR in the UK. The following extracts show how the grand ambitions of modernising a beleaguered NHS are tightly wedded to an EPR-led information technology agenda. It is through this agenda, that government and civil service policy promise greater efficiencies, parity of treatment between regions, improved mechanisms for clinical governance and ‘seamless care’ across different welfare provision services:

Ministers are trying to transform 1940s system into modern, patient-centred care. Special report: the future of the NHS. A patient would have the right to fair access and high standards wherever they lived. Eventually they would have smart cards containing medical records. These electronic patient records would enable nurses, therapists and doctors to maintain continuity of care and knowledge of patients (Gillan, 2000).

The future electronic health record - As well as projects concentrating on specific data types and the ways these may be handled, other projects are concerned with the integration of all of this information into a unified electronic health record. If patients are to benefit fully from the electronic age, the current paper medical records folder must be tackled. (Kalra, 1994)

Direct motivation for the construction of an information infrastructure that is capable of supporting EPR has come from many UK public policy sources. At an early juncture, the UK’s independent Audit Commission were particularly critical of the NHS in the management of its patient records and the lack of effort put into establishing alternatives to paper based media. In its 1997 report, Setting the Records Straight, the Audit Commission observed few alternatives in the current NHS to paper records which usually ‘do not have a logical structure… become too fat and unwieldy’ with many sites keeping ‘multiple sets of casenotes for the same patient’. The report asserts that whilst EPRs ‘will eventually replace paper-based records altogether… they can cause as many problems as they solve… unless the existing system of medical records is sound and unless alternatives are considered carefully before implementation’. This then hints at some of the daunting factors that the NHS were later to try to take into account in drafting the Information for Health White Paper with its ambitious plans for a UK EPR. Information for Health is organised around the provisional plan for an EPR to be put into effect between 1998 and 2005 by which time ‘the final phase of implementation will see the completion of the work programme, with comprehensive electronic patient and health records available throughout the NHS to support the delivery of care’ including:

• Full implementation at primary care level of first generation person-based Electronic Health Records

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• The electronic transfer of patient records between GPs • 24 hour emergency care access to patient records

Just as ambitious are plans for the deployment of EPR in the social services sector under the title of Social Care Records:

The e-government strategy sets some very challenging targets for both central and local government. The requirement is for all records to be held in electronic form by 2004 and all (appropriate) transactions to be carried out electronically by 2005. This in effect means that all social care records must be held on computers in one form or another so that they are capable of being accessed by those with the right and need to access them. Files in brown covers do not meet accessibility criteria, nor does information stored in the human brain (Information for Social Care, Department of Health).

The report of the UK’s Foresight Health and Life Science Panel (1995) places considerable emphasis on role of Information Technology, but only mentions EPR in passing as one element in the realisation of a general hypothesis: ‘There will be a rapid penetration of information technology into health care and the life sciences – not only for data management, but also as a tool for insightful analysis, modelling and interpretation’ (88). This is less surprising since the overall orientation of the report is more attuned to R&D than it is to service delivery itself. In addition, during the period in which the report was being prepared, EPR was only just entering the innovation agenda in the UK. This was not to figure more prominently until the 1997 publication of the Audit Commission report mentioned above. Needless to say it remains in doubt whether many of the objectives outlined more recently by the Department of Health are realisable in the stated time period desired by UK policy actors. A recent MORI poll commissioned for British Telecome found that whilst as many as 77% of central government officials believed the timescale for implementation to be feasible, fewer than a quarter of respondents from health and local government thought the 2005 target would be met (Guardian, 15.11.00). Below, we have sought to document the recent experience of relevant actors in EPR and the implications that this has had for the identity of EPR as a relatively shared concept with certain organisational, technical and relational characteristics that are unique to the UK. Configurations: EPR in the UK The arrangement of actors involved in the development and organisation of the EPR in the UK is extremely diverse. This in itself is seen to be somewhat disorientating with various actors still extremely unsure of their relative positions and the distribution of roles. A defining feature the EPR in the context of the UK is the uneven distribution of information technology resources between primary and secondary care. Whilst primary care is characterised by a relatively high degree of PC use and IT literacy amongst GPs, the secondary care sector exhibits very poor use of and access to information technologies generally, let alone EPR in particular. This asymmetry is particular ironic since the government’s white paper, Information for Health, places emphasis on the role of EPR in the UK acute sector where the feasibility of the concept is more problematic (Wilkins, 1998). In addition, the long-term ambitions for EPR is that it should eventually evolve into a more comprehensive EHR that would be located in primary care where ninety per cent of clinical encounters take place. This would integrate social care records with medical records and, ideally facilitate more seamless management of the health and welfare provisions which people have available to them. The problem in the UK is fourfold:

• First, as we mentioned above, the first phase of the objective is to be achieved in a secondary care context where IT use and familiarity is pitiable, at best. Information for Health itself recognised that at least 70% of Trusts do not possess information systems on which it is currently possible to exchange patient data (p32).

• Second, whilst the primary care sector is much further ahead, it is extremely unclear on what basis it could produce the kinds of unitary organisational ‘industrial’ IT capacity required to create and operate the population’s electronic records.

• Third, given that flexible autonomy largely accounts for the reason why the primary sector is more IT developed, that same feature could contribute to a degree of fragmentation that would

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make both the EPR and EHR impossible to implement. Again, this draws attention to a problematic tension between centralisation and local facilitation that has dogged the recent history of ICT coordination in the UK.

• Fourth, the final problem arises because it is unclear who benefits from electronic records systems and, as a consequence, which sector/actor should be responsible for its development. This varies between the concepts of EPR and EHR. The EPR is the provider’s record of a patients’ treatment and is therefore organised in respect to the needs of the provider (NHS Trusts / Health Authorities). It is, then, relatively clear that EPR should command some secondary care investment. The EHR on the other hand is the patients’ record of their health and is oriented towards their own needs as they move across multiple forms of health, medical and social provision. It is therefore more ambiguous both in respect to who it benefits and who pays for its development thus removing direct motivation for health/social welfare providers to commit themselves to its costly development.

One scenario that has been charted is that EPR systems developed for operation in the acute sector will be adapted for use in primary care. This creates particular problems for commercial suppliers of GP systems and would bring them into direct competition with Health Authorities, Trusts and their commercial suppliers. The UK’s Department of Health have taken a strong role in defining the technical form that they believe EPR should take. Of the many versions of the concept available, the DoH ambitiously envisages fully computerised records with the provision for analysis and data archiving. As such, the approach indirectly discourages an incremental development of the technological and organisational basis upon which EPR might operate (Wilkins, 1998). In essence this has had the effect of slowing or arresting the development of both the EPR itself but, more importantly, the various components upon which it might come to depend. There are other organisational characteristics that have impinged upon the UK’s incremental movement towards EPR. For example, the NHS Executive has largely depended on an additive model whereby different stages of the information strategy are achieved sequentially. That is, movement from one stage to the next cannot be achieved until the previous stage has been completed, there being six identified stages in the case of EPR. Without going into unnecessary detail, the ‘multi-level EPR model’ is based on assessments of pilot projects and on a conventional approach to the organisation of Hospital Information Systems (HISS). In practice, this linear sequentiality has generated a highly inflexible developmental structure that fails to accommodate new opportunities easily (image management and exchange, web based interfaces, etc) and inhibits rather than enhances incrementalism. There has also been substantive discussion in the UK about where primary and secondary IT capacities are currently placed within the six levels. Most critics argue that present conditions mean that few healthcare actors are able to demonstrate system development above level one or two of the EPR implementation scheme (Benson, 1998). The likely inability of EPR to mesh with new opportunities and systems was a consistent theme of discussion in interviews. One of the interviewees, a member of the UK Foresight Panel on Health Care, expressed the difficulty that the panel had in trying to formulate a coherent concept how EPR might articulate with other data sharing applications:

Now without an electronic record there's no way particularly to capture them (clinical images) that it would be useful anyway. But there's actually a real technical problem… a research issue there at present… if an electronic patient record existed, how would we make sure the useful stuff from medical imaging actually got into it. The answer is it's not at all obvious. The constraints are that however it was done it would have to take no longer than it currently takes for radiologists to stick a few forms up. That's actually very challenging (c).

Another implication of the way in which the DoH and the NHS Executive has pursued EPR is that it places greater emphasis on achieving technical goals and at the expense of interorganisational communications. That is, EPR is largely seen as a problem of sequential technical infrastructures rather than organisational and management reorganisation. The implicit rationale is that if the technical systems are in place then organisational change upon which EPR depends will follow. Again, this reflects a long-standing pattern in the UK health sector whereby Information Technology strategies have been highly centralised and technically oriented. As a consequence, it is possible to argue that

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much of the local dynamics of niche development/innovation to satisfy particular needs and requirements have been stifled. This can be seen to account for the relative success of IT take-up in primary compared to secondary care where smaller scale actors are able to be more pragmatic in satisfying local ICT needs. Though the shift to Primary Care Groups may in future inhibit flexibility. One means sought to move more rapidly on EPR typifies other recent strategies for IT implementation in the UK, particularly the use of pilot projects or ‘demonstrator sites’. In a recent DoH research round, thirteen sites were selected from 96 applicants in 2000 with an aggregate funding allocation of just £6m (Health Service Journal, 22.5.00). This is one of the targets identified in Information for Health and evidently seems to have been fulfilled, though at a cost vastly disproportionate to the sizeable sums necessary for national implementation. In terms of actual EPRs operating and in use, advances in the UK are at present little more developed than this. Interviews with actors from both public and commercial sectors demonstrated overwhelming dissatisfaction with present progress made towards a realisation of the concept of EPR found in most public policy literature. The following extract is taken from an interview with a technical specialist in a health informatics company contracted to supply communications solutions to clinical specialists:

S: in many instances but you’re going to have to improve it way, way above what you’d normally use, it’s a quantum leap above your basic data transfer, everything on electronic patient record… N: so the promise is fantastic but the feasibility’s incredibly low… S: yeah

Tellingly, another interviewee, this time a senior manager in commercial software development, also drew on the notion of ‘quantum leaps’ to express the difference between EPR fantasy and fact:

What we’re saying is “Let’s make the quantum leap now to convert everybody onto an electronic patient record that is accessible anywhere in the country at any time, twenty four hours a day, seven days a week” (MC).

One of the most controversial difficulties in the context of the UK has been the formulation of an agreed clinical coding system upon which the EPR will operate. The electronic patient record and the electronic health record requires a common coded clinical vocabulary to allow accurate electronic communication of clinical information. The original approach adopted by the NHS Executive was to initiate a high cost project that would see the establishment of the ‘Read Codes’, a non-proprietary version of the US’s SNOMED. Despite growing criticism that the project was too large an undertaking for a single domestic healthcare provider, the NHS’ Information Management Group (now disbanded and replaced with the NHS Information Authority) became locked into its commitment to deliver on the sizeable investment sunk into the development of the codes. In turn, the NHS became locked out of possible benefits that might accrue from having a system of clinical coding which would match those in use elsewhere, particularly in the US. After a decade in development, the DoH announced in April 1999 that the Read Codes were untenable on their own and would be merged with the US SNOMED clinical vocabulary. As one critic commented:

The lesson? The NHS might be big, but it is weak. Weakly managed and weakly funded. It can't afford to develop its own tools… Information for Health doesn’t say much about this... It should have said: use the Internet for communications, not NHSnet; use HTML for your documents, not Word, PDF or any other proprietary format; use off-the-shelf software for data processing, even if it’s American. Whatever you do: don't develop your own (Mitchel, 1999, p1).

Binding Rules In respect to the particular issue of binding rules, arrangements for assuring patient confidentiality and the security of information similarly have a unique trajectory and institutional development within the UK healthcare sector. Indirectly, concerns over confidentiality have been the focus of new configurational arrangements amongst numerous healthcare actors including the medical professions, the pharmaceutical industry and government healthcare policy.

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Before discussing this in greater depth, it is worth examining current medico-legal and professional arrangements for securing electronic confidentiality in the UK. Whilst there is no specific legislation governing medical confidentiality itself, any information held in confidence is protected by the Data Protection Act of 1998 and the Common Law Duty of Confidence. Whilst these provisions are judged to be satisfactory for paper-based records, there are certain features of EPR that are much more legally challenging. These mainly relate to the misuse and adaptation of records that could, at a later date, call into question their status as legally true accounts of treatment. For example, unlike paper-based records, EPRs could be modified without that modification being obvious. Neither is it clear where lies the true account for any case under legal consideration since the record itself might be dispersed across any number of systems and healthcare sectors. Whilst the first of these problems might be addressed by Civil Evidence Acts, solutions to the second problem are only possible through technical rather than legal routes. It would, for instance, be necessary to enhance the technical properties of an EPR by creating compulsory log-on and registration features. Whilst the above legal provisions are exclusive to the UK, these technical features are necessary considerations for EPR in all of the country contexts discussed in this study. What is probably less common to other healthcare environments is the way that confidentiality became a medium for wider power struggles between healthcare actors specific to the UK context. Confidentiality served as the key issue through which the medical professions (principally the British Medical Association and the General Medical Council) engaged with questions of IT-mediated governance and general changes to the culture and routines of medical work. It has been argued that the professions have been able to mobilise formidable resistance to the health informatics policy agenda by using the ethical and legal problems around confidentiality as leverage. The stand-off between the NHS and the UK clinical professions (particularly the BMA) over confidentiality had huge implications, delaying the implementation of NHSnet (the operating platform on which EPR is likely to function) by two or more years. The impasse was only breached through protracted negotiation and the eventual publication of the Caldicott Report on patient confidentiality in 1997 (Kelly, 1998; Department of Health, 1997). This has recently been taken further with the publication of Good Practice Guidelines for General Practice Electronic Patient Records (by the Joint Computing Group of the General Practitioners’ Committee and the Royal College of General Practitioners), published in Aug 2000. This effectively, for the first time in the UK, opened the door to distributed electronic access to patient records. The issue of confidentiality has been made all the more problematic in the UK as a consequence of the likely availability of clinical data to secondary use, particularly in pharmaceutical research. If structured appropriately, the EPR could provide an opportunity for assembling detailed clinical information that would otherwise be quite difficult to exchange. This would then bring actors like the NHS and the pharmaceutical industry into a potentially closer knowledge sourcing infrastructure (Fears and Poste, 1999). Access to genetic diagnostic health care records for commercial research is likely to alter the degree to which existing confidentiality rules can be adapted for the EPR (Chadwick, 1999). Such questions are not entirely theoretical or speculative in the UK. There have been a number of recent events that demonstrate a restructuring of UK legislation for the purposes of data sourcing of patient records for secondary and research purposes. In a turn of events reminiscent of the controversies surrounding the ‘sale’ of the Icelandic populations’ genetic register, the UK Court of Appeal recently overturned an earlier High Court ruling (Times Law Reports, 14th June, 1999) that the secondary use of anonymised patient data for commercial development had breached confidentiality (21 Dec 1999). The challenge, against the Department of Health, was initiated by a suitably hybrid public-private consortium including Source Informatics, representative organisations of the pharmaceutical industry, the General Medical Council and the Medical Research Council. The judgement applies to two databases, the GP Research Database managed by the Medicines Controls Agency and the UK Primary Care Database ownership of which has passed from Source Informatics to IMS Health. The latter of these supplies data on over two million patients to pharmaceutical firms (Strobl and Cave, 2000). Controversially, the new ruling asserts that since the data is non-patient-identifiable, this removes the necessity for consent to be given for secondary use. This is but a small illustration of much more general lobbying to persuade government and health providers that patient records represent a significant, though as yet insufficiently utilised commercial research resource (Fears and Poste, 1999; New Scientist editorial, 1998; THES, 2000). The terms under which this knowledge sourcing should be made available is clearly up for negotiation and actions will increasingly depend upon reformulating the terms under

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which records are controlled, including a redefinition of ownership, informed consent and privacy (Brown and Rappert, 2000). Added to this, interview respondents from the pharmaceutical sector have been unanimous in pointing to the Icelandic case as model of how the Department of Health could proceed in making population genetic data more readily available. In effect, the realisation of the UK’s Electronic Patient Record, is seen as a necessary precursor to a commercially run database that will service both ‘public health and industrial research’.46 Again, the combinations of actors involved in these kinds of initiatives is highly telling of the complexity of configurational relationships that must be taken into account in understanding the current and future shape of EPR in the UK. Having charted some of the broad developments and relationships within which the UK’s EPR is situated, we will now relate the above account to the conceptual scheme used in the FORMAKIN project. Many of these difficulties have, on the whole, dissuaded potential commercial collaborators from becoming deeply involved. Until recently, a sizeable number of IT firms were dedicating substantial resources into what they thought would be a new market for health informatics technologies in the UK sector. Since then, much of this early activity has subsided with large companies downscaling their health related R&D concerns until such time as the UK Health service is judged to have resolved at least some of its infrastructural issues. A respondent for one of the largest ICT suppliers to the NHS, in an interview in early 2000, expressed his company’s response to EPR as follows: I think on electronic patient records we’re prepared to suck it and see for a bit I think. Anyway what is interesting, Healthcare IT Show last year every big supplier was there saying “we do electronic patient records” and all they’ve done is taken their software from last year and then called it Electronic Patient Record software and it’s all the same stuff so nobody actually does it, nobody really understands what it means… what it is. Our role in this would be something to do with managing the distributed search engine that can go across the network and that would probable be the extent of our involvement… this is years out, I mean EPRs were supposed to happen in secondary care to start with…. (PD). The picture that emerges is a shared understanding across numerous actors that EPR will one day be a reality but there is very little understanding about how this is likely to take shape. The same respondent above went on to say:

one of the things that’s absolutely for sure is that an electronic patient record is something that will exist on a PC screen at a point in time… so without being quite clear on what’s going to happen, we’re just sort of positioning ourselves to be somebody that people take into account when they’re thinking about these things… (PD).

Innovation management amongst health care policy actors has mainly centred on responding to targets within the DoH’s implementation scheme for EPR and with formulating/disseminating systems protocols. In most respects this has been judged to be over-ambitious and has led, in certain, respects to some targets having been removed. This is particularly the case in respect to a deadline for all PCGs to be connected to NHSnet by the end of 1999, a deadline which ultimately had to be removed before becoming a largescale symbol of institutional mismanagement. The problems surrounding innovation management in the UK’s health information sector run very deep. IT strategy in the UK has been heavily criticised for being highly centralist and bureaucratic by initiating complex procurement regimes and failing to provide adequate technical support/guidance. This effectively squeezed out any opportunity or space for more flexible, local and innovative initiatives. Bureaucratic centralization has then been credited with having generated huge delays and wastage. From time to time, the NHS has had to engage in substantive institutional reorganisation simply as a means to resell the IT promise back to a healthcare actors who have become disenchanted with the feasibility of the Information for Health agenda. One example of this is the abolition of the Information Management Group (IMG) and its replacement with the new NHS Information Authority. The latter was established with the promise of less bureaucracy and greater practical assistance. This in itself has created acute difficulties in the implementation of EPR. EPR is widely acknowledged to require clearly defined standards and guidance particularly to PCGs who are currently in the process of setting themselves up and facing new large scale systems procurement tasks. The new Information Authority 46 See George Poste in submission to the House of Lords Select Committee on Science and Technology: Second Report, 1999-2000.

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has been widely criticised for dithering between the risks of prescriptively providing too much guidance and, on the other hand, not providing enough (Health Service Journal, 1999). Discussion: General Character of EPR We can present the discussion above in terms of the analytical scheme developed for the FORMAKIN project, drawing out particular features of the UK case. S&T Development

Promise EPR is central to the promise of integrated healthcare delivery – in the context of an NHS heavily criticised for inefficiencies and fragmentation

Stage of Development

Still at a very preliminary stage of development in comparison to expectations about EPR

Range of Agreement about the future

Whilst many relevant actors agree that EPR is likely to be realised, there is little consensus on immediate planning and near term feasibility of infrastructural targets.

Configuration Formality of actor relationships

Acute problems with enrolling the clinical professions into the EPR policy agenda, especially because it is so symbolic of IT-related threats to clinical autonomy (governance and managerialism).

Binding Rules

Confidentiality has been difficult to resolve – technical measures are yet to be put in place. Confidentiality seems to have been used as a means for the clinical professions to exercise some agency over the ‘threats’ of IT-mediated healthcare reorganisation. Standards – most actors comment on the need for strong leadership from NHS Executive if EPR is to be realised without resulting in incommensurate systems.

Resource Dependencies

Chronic long-term underinvestment in information technology implementation. Resulting in a very poor secondary care basis for implementation. Firms complain of very unstable contract relationships with healthcare providers.

Durability of relationships

Relationships are relatively short-lived between healthcare providers and ICT firms with many larger firms scaling down their initial investment in the sector. The instability of contractual relationships being one feature of this. Though this differs somewhat in respect to the pharmaceutical industry who are able to capitalise on long-term relationships with policy actors – especially fostering legal change around the utilisation of patient data for drug R&D.

Innovation Management

Product development

Firms are cautious Department of Health has been active in setting targets but criticised for not providing enough guidance.

Timeframes

Continually receding for EPR itself, though there is a substantial amount of activity concentrating on infrastructural development and meeting targets set by the Department of Health. Incrementalism thought to be inhibited by sequential developmental stages that cannot take account of new opportunities, change and flexibility

User of Importance

Clinicians and, less importantly, healthcare administration/auditing

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Importance

administration/auditing

Need

Need for EPR is very clearly defined through the problematised status of paper-based records outlined by the Audit Commission.

FOCA Role of Foresight The first round of Foresight predates the period in which EPR became a dominant policy goal in the UK – therefore it has not played a significant role in animating consensus between relevant actors. The UK is still awaiting the most recent round of Foresight reports which may well emphasise EPR much more strongly. Much of the negotiation around EPR has taken place in other fora including professional bodies, commercial healthcare ICT events, etc.

Brief Discussion of Base Data The data set used to inform our assessment of the EPR in the UK is drawn from a number of complementary sources, providing for a substantive appraisal of the current institutional and technical arrangements through which the concept is developing in this context. Our data is composed of: Interviews with four main constituencies including managerial and executive health policy actors (The NHS Executive Information Management Group and Information Authority); clinicians (specifically consultant Dermatologists); public research; commercial R&D actors (including senior executives and product development personnel). Interviews comprised 3 persons per constituency. Secondary literatures including clinical peer journals, healthcare policy literatures, social science commentaries and official legal/public policy reports (see references section at the end of this document). Workshops and symposia on Healthcare IT, telemedicine and EPR Ongoing assessment of and participation in the UK’s telemedicine/EPR virtual email discussion list.

References Anderson RJ. (1996) Security in clinical information systems. London: British Medical Association. Audit Commission (1995), Setting the Record Straight: A Study of Hospital Medical Records. HMSO,

(ISBN Ol 1886 412 2) Audit Commission. (1995) For Your Information: a Study of Information Management and Systems in

the Acute Hospital. London: HMSO, 1995 Barber B. (1997) Security and confidentiality issues from a national perspective. In: Barnett D, ed.

Patient privacy, confidentiality and data security. Papers from the British Computer Society Nursing Specialist Group Annual Conference, 1995. London: British Computer Society.

Benson, T. (1998) For your eyes only? Health Service Journal, 10 Dec. pp11-13 Berg, M., Langenberg, C., Berg, I.v.d. Kwakkernaat, J. (1998) Considerations for sociotechnical

design: experiences with an electronic patient record in a clinical context. International Journal of Medical Informatics, 52, 1, 243-251

Berg, M and Harterink, (in press) Embodying the Patient: Records and Bodies in early 20th Century US Medical Practice. In Akrich, M and Berg, M. (eds) Bodies on Trial. Performances and Politics in Medicine and Biology (forthcoming).

Berg, M and Goorman, E. (1999) The contextual nature of medical information, International Journal of Medical Informatics, 56, 1, 51-60

British Medical Association. Joint Computing Group of the General Practitioners’ Committee and the Royal College of General Practitioners (Aug 2000) Good Practice Guidelines for General Practice Electronic Patient Records.

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Brown, N and Rappert, B. (2000 in press) Emerging Bioinformatic Networks: Contesting the Public Meaning of Private and the Private Meaning of Public. Prometheus, 18, 4.

Chadwick, R. (1999) ‘The Icelandic database – do modern times need modern sagas? British Medical Journal, 319: 441-444.

Curry, R.G. and Norris, A.C. (1997) A review and assessment of telecare activity in the UK and recommendation for development. Report to the UK Department of Health.

Denley I, Weston Smith S. (1999) Implementing access control to protect the confidentiality of patient information in clinical information systems in the acute hospital. Journal of Health Informatics, 4: 174-178.

Department of Health (1999) For the record. Health Service Circular, 053. Department of Health (1998) Using Electronic Patient Records in Hospitals: Legal Requirements and

Good Practice. Health Service Circular, 153, Department of Health (1998) Preservation, Retention and Destruction of GP General Medical Services

Records Relating to Patients, Health Service Circular, (Replacement for FHSL(94)30). Department of Health (1998), Information for Health, HMSO, (ISBN 0953271902) Department of Health (1998) Information for Health: An information strategy for the NHS, 1998-2005.

Health Service Circular 168. Department of Health (1997) Report on the review of patient identifiable information. (Caldicott report.)

London: Department of Health, See also, Health Service Circular 1998/15 Department of Health (1996) The Protection and Use of Patient Information, Health Service Circular,

18. Fears, R. and Poste, G. (1999) ‘Building population genetics resources using the UK NHS’ Science,

284, pp. 267-8 Gillan, A. (2000) Ministers try to transform 1940s system into modern, patient-centred care. Special

report: the future of the NHS. The Guardian, Friday July 28, 2000 Goorman, E. and Berg, M. (2000) Modelling nursing activities: electronic patient records and their

discontents. Nursing Inquiry, 7, 3-9 Griew, A., Briscoe, E., Gold, G. and Groves-Phillips, S. (1999) Need to know; allowed to know – The

health care professional and electronic confidentiality. Information Technology and People, 12, 3, 27-28

Health Service Journal (1999) 24 June, p10. Information Management Group, National Health Service Management Executive, Department of

Health. Getting better with information: IM&T strategy overview. London: NHSME, 1992. International Journal of Public Sector Management Editorial. (2000) The information management and

47technology strategy of the UK National Health Service – Determining progress in the NHS acute hospital sector, The International Journal of Public Sector Management, 18th Aug, 13, 3, 241-259

Kalra, D. (1994) Medicine in Europe: Electronic health records: the European scene British Medical Journal 1994;309:1358-1361 (19 November)

Kelly, G. (1998) Patient Data, confidentiality and electronics. British Medical Journal 1998;316:718-719 (7 March)

National Health Service Executive. (1997) Caldicott Commission Report, London: HMSO Neame, R. and Kluge, E-H (1999) The impact of informatics. Computerisation and health care: some

worries behind the promises. British Medical Journal;319:1295 Mitchell, P. (1997) Confidentiality at risk in the electronic age. The Lancet, 349. Mitchel, P. (1999) ‘Coded message: don't DIY’, Health Service Journal, 24 June. p.1 New Scientist, editorial (1998) Dec 5, p.3 Office of Science and Technology (1995), Technology Foresight – Health and Life Sciences Panel

Report. (ISBN 0114301190) Perkins, J.J., Sanson-Fisher, R.W., Byles, J.E., Tiller, K. and Berg, M. (1999) Patient care information

systems and health care work: a sociotechnical approach. International Journal of Medical Informatics, 55, 2, 87-101

Powsner, S.M., Wyatt, J.C. & Wright, P. (1998) Opportunities for and challenges of computerisation. The Lancet, 352, 1617-1622

Rigby, M. (1999) The management and policy challenges of the globalising effect of informatics and telemedicine, Health Policy, 46, 2, 97-103

Strobl, J. and Cave, E. (2000) Data protection legislation: interpretation and barriers to research, British Medical Journal, 321:890-892

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Tachakra, S. et al., ‘Confidentiality and ethics in telemedicine’ Journal of Telemedicine and Telecare Supp. 2, 1996, pp. 68-71.

Times Higher Educational Supplement, 2000. Feb 11 Times Law Reports (1999) R v Department of Health ex parte Source Informatics Ltd; 14 June. Wilkins, C. (1998) On the Records. Health Service Journal, 10 Dec. pp8-9

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Telemedicine in the UK A Case Study

Introduction Like EPR, telemedicine has had a huge political profile in the UK over recent years. It has been seen as a method for delivering services in a considerably more efficient manner and thus overcoming some of the chronic waiting times and inefficiencies so characteristic of the UK’s health service. In these respects telemedicine is part of a much more long-term health policy agenda associated with the community care initiatives that have dominated the delivery of services since the mid 1980s. It is also defined as a means of extending the policies of clinical governance and has, like EPR, met with some resistance from the healthcare professions as a consequence. In these terms, telemedicine is defined as a new spatialisation of service delivery. However, unlike EPR, telemedicine itself is much less clearly defined as an innovation area. Nor is telemedicine as directly affected by technical targets set by central government and the Department of Health. It is then, much looser both in terms of innovation itself (artefacts, products, services) and in terms of the relationships between relevant actors. This lack of definition combines with serious resource allocation problems within the health service that have recently acted as a disincentive for larger ICT firms to become more fully involved. The picture that emerges, and which is discussed in greater length below, is of a telemedical field in which there is the need for innovation actors to put considerable effort into circulating expectations and scenarios for telemedical applications. A consistent theme to have emerged in interviews is of a situation in which industry is ‘hand-holding’ healthcare providers into a shared understanding of telemedicine’s ill-defined potential. Future-Oriented Coordination Activity The definitional scope of telemedicine is often unclear and as such the promises attributed to it vary considerably. In general telemedicine is said to offer enhanced access to specialised expertise (particularly in rural locations and for people with limited mobility), a reduction in travel times for both doctors and patients, and the possibility of new and perhaps more productive doctor-patient interactions (e.g., as in psychiatry). In other words, telemedicine has often been associated with higher standards of care, lower costs, shorter waiting times and a greater transparency in the quality and provision of health care. One of the most significant features of the telemedical case in the UK is the way in which it is regarded as just one, albeit major, component of a much broader reorganisation of service delivery for social, primary and secondary care. There is enormous political pressure in the UK to achieve such goals within the set time period of 2005. Whilst these targets are more specifically concerned with EPR and some of the technical preconditions upon which it depends, targets will nevertheless lead to new opportunities for the growth of the wider telemedical market: Information for Health specifies that telemedicine and telecare options must be considered routinely in the development of Health Improvement Programmes and associated service strategies. Telemedicine offers the potential to deliver integrated, collaborative care with improved equity of access, quality and efficiency. It will allow specialist care to be brought closer to the patient. Services can be delivered locally offering reductions in travelling costs and time. It could be used to speed up the referral process and should allow more timely access to accurate information both for professionals and for patients. It could play a part in improving multidisciplinary team working, reducing professional isolation and generate new opportunities for personal development, continued learning, transfer of skills and the development of new professional roles (NHS Executive statement, 1999). Configurations: Telemedicine in the UK The degree of novelty associated with the sector varies considerably. Telemedicine is simultaneously old and new, realised and futuristic, mundane and revolutionary. For some time, health care has been delivered through remote communications services in shipping and defence environments. The more transformative aspects of telemedicine relate to the possibility it offers for integrating medicine into work, domestic, and leisure settings via electronic communications. To the extent that telemedicine is associated with revolutionary change, it is seen as part of much more global developments in information technology. Whatever its ‘revolutionary’ potential telemedicine is still presented as the future conduit for the delivery of health care.

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In practice telemedicine in the UK thus far has not lead to any revolutionary change in the nature of health care. Rather, besides its use in extreme physical circumstances, telemedicine projects have developed in niches whereby they have not displaced but instead complemented existing services. Because there are recognised technological and organisational limits to telemedicine, it is less associated with the same sorts of systematic uncertainties that prevail in genetic diagnostics. Moreover, telemedicine is primarily being taken forward through two routes. First, at the local level, specialities such as mental health, dermatology, and orthopaedics have for some time sought to promote telemedical solutions to referral and consultation (e.g., as in telepsychiatry or teledermatology). Second, as we document in greater detail below, telemedicine is implicated in substantive macro-policy change in UK health care reorganisation. Many of the technologies currently used in telemedicine are adaptations of ICTs devised for wider purposes. As such, R&D on core telemedical technologies are not conducted specifically with the clinic in mind. To be sure, the use of ICTs for medical applications brings particular concerns for security and the quality of imagery that might not be as high priority in other areas. The links between users and manufactures in this area are more aptly characterised in terms of customer-supplier links rather than R&D collaborations. Neither is not the pre-existing research system nor very long-term collaborative relationships in place to ease telemedicine’s integration into industrial-clinical relations. While the relationship between clinicians and developers should not be thought of as a linear one, there is some degree of separation in competencies and roles. As some indication of the R&D activities currently underway, academic research into telemedicine specifically is not so much geared around advancing underlying scientific and technical knowledge, but conducting trials and assessments with the intention of fostering greater uptake. The Department of Health (DoH) UK National Database of Telemedicine48 lists 68 current or recently completed UK telemedicine projects (most started since 1997), many in clinical disciplines such as cardiology, dermatology, accident and emergency, and psychiatry. That a number of interviewees saw the database as reflecting no more than 10% of current telemedical activity in the UK indicates a general lack of knowledge about the status of the sector amongst policy makers and industry alike. Of those projects listed, the majority are pilot collaborations between providers and industry and are generally limited in scope and duration. As one advocate of telemedicine described the situation: I see telemedicine as stuck in a pilot stage, I see there is a lot of people who have thrown together a few bits off the shelf kit, had a play at it, found it’s very useful but these is no economies, it’s not really scaleability. For example, some people are using the Internet, some people are using broad band video facilities and because it’s so fragmented there’s no overall infrastructure in place. In respect to the way telemedicine is being rooted into the structure of health care delivery, the role of pilot projects is particularly significant in constructing the utility, value and future momentum of the sector. Pilots are accredited with having some degree of efficacy as a fora which both prepares a market whilst enabling its constituencies to act and rehearse their requirements within a preparatory environment. They also demarcate a certain point in the time series of an emerging technology, suggesting a certain willingness locally to rehearse ‘cosmopolitan’ scenarios about the future of health service provision. However, as implied in the statement above, pilots do not necessarily suggest widespread growth of a sector but instead may inhibit it by ‘locking-out’ its uptake and marginalising it from mainstream implementation. The most significant problem area identified by interviewees in the uptake of telemedicine is the enrolment of clinicians and the acceptance of consultants in particular. To be effective telemedicine must mesh with, but ultimately restructure, the way consultants spend their time and the degree to which they consider themselves locally responsible for the management of their activities. In doing so it is often cited as a threat to their status and sense of local ownership by making diagnosis and treatment open to further scrutiny. Inequities of access and variations in outcomes are also likely to become somewhat more transparent. Although, it more noted that this relates more strongly to administratively related applications such as EPR than it does to technologies for remote consultation and the like. 48 Department of Health, UK National Database of Telemedicine: A database of telemedicine and telecare projects in the UK. (University of Portsmouth: Health care Computing Group, 1998) http://www.dis.port.ac.uk/ndtm/index.htm

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Extending this previous point, a key consideration in relation to the resistance of professionals resistance amongst the clinical professions to the administratively focused managerialist heritage of UK health IT. This situation at once constrains the telemedical agenda whilst making explicit the requirement for a new identity if essential enrolees are to be aligned. Telemedicine is synonymous with the drive to overcome fragmentary organisational alignment between primary and secondary care. Where once health IT innovations were being promoted as necessary tools for the successful implementation of the purchaser / provider distinction, they are now recast as the means of overcoming organisational barriers by creating new opportunities for integration. One key enrolment problem arises from the former administratively focused character of the UK health IT agenda and the subsequent alienation of the clinical professions. This is particularly the case in secondary care where practitioners have far less access to PCs than in GP surgeries and where IT is more closely aligned with resource management rather than clinical care. The need to overcome organisational fragmentation has necessitated the circulation of a completely new identity for health IT in the UK which disassociates it from prior promises associated almost exclusively with the successful operation of administrative procedures (including scheduling, auditing, contracting, etc.). So whilst complementing existing services and thus developing incrementally rather than radically, a new clinically oriented promise has had to be manufactured for health IT. Telemedicine and the EPR are technical signs of just such a new identity. The administratively oriented health informatics regime had largely ostracised the clinical community and was seen to be an additional managerial encroachment into the high degree of autonomy and independence that the clinical professions had hitherto enjoyed. This misalignment subsequently became more manifest at the institutional level in terms of British Medical Association (BMA) objections and a number of highly critical Audit Commission reports.49 In sum, the new promise is a clinically focused rationale and its intended enrolees are the disenchanted clinical professions whose resistance to health IT was largely premised on its former managerial focus. Telemedicine is consequently something of an obligatory passage point for the integration of administrative and clinical socio-technical registers and greater co-operation between primary and secondary care. It is also central to the enrolment of clinicians and, in turn, the extension of NHS quality accreditation measures from resource auditing to clinical governance. Yet successful enrolment is proving elusive. In a recent survey, most GPs expressed the view that gathering the data to satisfy government performance measures, whether by telemedicine or other auditing procedures, will be time consuming and counter productive in the way financial and administrative imperatives had been before.50 Other illustrations of the mutual dependence of health service reforms upon the even uptake of the emerging health IT infrastructure is the radical re-organisation of primary care into Patient Care Groups (PCGs). PCGs involve organising individual GP surgeries into larger regional groups of practices each pooling resources and sharing administrative responsibilities. Shifts in scale of this kind have a considerable impact on the risks attached to the take-up of new innovations. The decision-making flexibility that characterises smaller actors has changed as procurement responsibilities become centralised within the PCG as a whole. Interviewees with telemedical firms pointed to widespread fears that this change of scale might bring with it the problems that had besieged the hospital IT sector (inflexibility and reticence) and have an adverse affect upon innovation and uptake, particularly for smaller ICT companies. If anything, nationally co-ordinated guidance tends to reflect rather than resolve these uncertainties by sending out confusing messages. The main thrust of DoH guidance for PCGs is to set daunting IT targets on the one hand and yet advise PCGs to install as little as possible until more is known of how PCGs will operate and what their yet unknown information requirements will be.51 In the UK, attempts to set national standards remain relatively embryonic with many complaining of simultaneously poor guidance and bureaucratic procurement requirements. The Information

49 Audit Commission. For Your Information: a Study of Information Management and Systems in the Acute Hospital. London: HMSO, 1995. See also, Jeremy Wyatt, Hospital information management: the need for clinical leadership, British Medical Journal, 1995, 311: 175-178 50 G. Scally and L. Donaldson ‘Clinical Governance and the drive for quality improvement in the new NHS in England’, British Medical Journal, 317, 1998, pp. 61-65. 51 Working Paper - IM&T Requirements to support PCGs. NHS Executive, March 1999.

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Management Group (IMG) of the NHS, the organisation once responsible for co-ordination and standard-setting, received particularly heavy criticism. It had been very slow at responding to requests for advise and approving the purchasing of IT systems by hospitals, which at that time was mandatory. More importantly, the group was institutionally symbolic of an administratively dominated health IT agenda. The setting of standards, and the operations of their presiding institutions, are deeply implicated in the aspirations with which a technological agenda is associated. Consequently, the reinvention of health IT as relevant to clinical objectives, involved replacing the IMG with the new NHS Information Authority set on a less bureaucratic supervisory role. Yet, reducing the bureaucratic posture of the new Information Authority is itself expressive of certain tensions in the formulation of standards and may even turn out to be an inhibiting factor in creating consensus. One of the key difficulties in the mobilisation of standards, as in so many ICTs decisions in the NHS, stems from the aforementioned need to defer decisions to local actors in the interests of fostering their greater sense of ownership whilst at the same time providing adequate guidance. Despite allusions to the importance of telemedicine,52 the NHS lacks an overall, co-ordinated strategy.53 Interviewees, overwhelmingly felt the lack of co-ordination had so far hindered the uptake of telemedicine. Illustrating this, the NHS Executive failed to provide the new PCGs with guidance on specifications for systems. Local actors themselves have expressed confusion over how to proceed in order to meet challenging IT targets set by government.54 This includes the requirement to have all GPs connected to NHSnet by the end of 1999 in addition to other commitments in the Information for Health White Paper. As a consequence, future uncertainties on telemedicine are particularly acute as the NHS and the new Information Authority redefines its approach to sourcing and disseminating standards. The Institute of Health Service Managers has offered some guidance.55 Negotiating standards involves more than just finding technical agreement, it can be about highlighting the importance of this area and shaping the direction of telemedicine. The Royal Colleges have set up telemedicine sub-committees along speciality divisions, though as yet ethical or legal advice for physicians and industry has not emerged. So far the incompatibility of existing systems due to the lack of standards has contributed to the pilot character of activities. Whether by government direction, market mechanisms or local self-organisation, debates around standards are likely to remain the key terms of reference for the emergence of the telemedicine future. Teledermatology Case Study One of the enormous difficulties presented by telemedical initiatives in the UK is the impact it has on other areas of service arrangements. The consultant dermatologists interviewed for this study decided to establish their own telemedical initiative partly as a result of competitive pressures from a private teledermatological service provider. A commercial firm had already secured a contract to supply teledermatology diagnostic services to a large local Primary Care Group. As a result, secondary care dermatological services in the area found themselves marginalized as well as having to cope with an increased number of referrals for treatment. Indeed, it has been claimed that the PCG concerned reduced the average waiting time for a diagnostic referral from 18 months to 17 days, in some cases. This has had the effect of creating greater demands and increasing treatment waiting lists. Other important considerations emerge from the practical value of telemedicine to the professional discipline of dermatology itself. A recurrent theme in interviews is that dermatologists think they’re misrepresented as essentially a visual specialism – and therefore is seen by outsiders as ripe for telemediation. That is, it seems obvious to health providers and policy makers that dermatology can be done by looking at jpegs and jiff files rather than ‘real bodies’. This is what consultants call the ‘quick look’, or ‘wallpaper matching’ characterisation of their field.

There’s a body of medical opinion that have misperceptions about what [dermatology is] and think that a consultation is having a quick look… it’s a phrase that you come across from non-dermatologists… it’s completely wrong… wallpaper matching doesn’t work (BS–ConsDerm).

52 HMSO, The New NHS. Cm 3807 (London, HMSO, 1997). 53 Lorraine Ashley and John Kelly, ‘Telecomplications’ Health Service Journal 11 December 1997, pp. 4-6. 54 Health Service Journal, 24 June 99 p.10 55 Institute of Health Services Management, Telemedicine and Telecare: Impact on Health Care (Oxon: Institute of Health Services Management, 1998).

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It’s the outsiders’ gaze on dermatology as essentially visual in its regard for the body that is seen to fuel misplaced enthusiasm for teledermatology.

…for external enthusiasts [of telemedicine] you should read the Government and also the NHS in general because they see that maybe you can screen these patients quickly and cut down the long waiting lists … (CG-ConsDerm). … it’s not coming from dermatologists, dermatologists are very realistic, the way telemedicine is being banded about is potentially dangerous because there’s absolutely no evidence… that it’s practical… it’s just in its infancy… (LG-ConsDerm).

The telemedical debate within dermatology is organised in reference to whether telemedicine can adequately incorporate a whole range of diagnostic factors including changes in the visual presentation of symptoms, lighting, magnification, touch, palpation, and the freedom to interrogate patients about their clinical history. Each of these aspects of the day-to-day practical organisation of dermatology are presented as aspects of diagnosis that ultimately cannot be satisfied by telemedical technology. As a result, most interviewees regarded telemedicine as perhaps one possible innovation which might complement existing practice but by no means replace it. That is, telemedicine is much more likely to have limited practical value in, for example, screening patients and determining the urgency of various referrals. In this way, telemedicine is finding a place in various niches within healthcare provision and contrasts strikingly with the more ambitious promises and expectations of Foresight and government policy. In addition, niche applications have a value for relatively small healthcare actors in providing an opportunity to demonstrate and rehearse new and innovative applications.

Binding Rules Legal concerns surrounding telemedicine are less related to confidentiality (Tachakra 1996), as is the case in EPR, and more focussed on issues of legal accountability for diagnostic decisions under conditions of remoteness. That is, specialists using telemedical applications have been concerned about the legal status and reliability of their decisions when using mediated rather than face-to-face consultations. This applies equally to cases such as NHSDirect and the teledermatological case described above. The provision of rules and legal sanctions to assure safety and efficacy are highly complex but extend existing arrangements such as those that normally apply to the behaviour of practitioners (Stanberry, 1998). A number of interviewees raised issues which have recently figured in the secondary literature regarding the possible use of inappropriately trained diagnostic services located beyond the legal jurisdiction of either the UK or the EU (Heijningen, et al. 2000)

Innovation Management A central problem in the development of telemedical services is how and on what basis to assess their contribution to cost containment for purchasers. It is a common paradox that whilst most organisation invest in ICTs on the basis that they will reduce costs, most find that savings fail to materialise because of unanticipated expense and new demands that emerge as a consequence of new technology. The NHS experience of investment in ICTs is no different. This goes back to the early days of NHS investment in ICTs and has now become embedded in future expectations about telemedicine itself. A 1996 Audit Commission report found that none of the major Hospital Information Services (HISS) it studied was able to demonstrate the savings or improved efficiencies originally anticipated (Audit Commission, 1996). In most cases, saving were less than one third of the original projection and, at the local level, a similar sense of modesty now applies to expectations about the projected efficiencies of telemedicine. There are some reports of NHSDirect having generated new demands on services. The teledermatological case mentioned above similarly illustrates this. Whatever savings are expected to be made within healthcare seem to apply to indirect and secondary costs such as those borne by patients in respect to waiting times and travel. Telemedical firms, therefore, have had a difficult time persuading healthcare actors – especially at local procurement level – of the potential benefits of investing telemedicine. Instead, they have had much greater success in generating a sense of opportunity at both extremes, that is the national policy level on the one hand and amongst specialist clinical services (such as dermatology and radiography) on the other. Firms themselves have therefore had to be highly competitive within small specialist niche application areas.

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Pilot projects and various other methods of assessment have proved vital to actors in their animation of innovation in the telemedical field. In addition to pilots, interested parties have had to demonstrate that certain perceived obstacles to innovation can be overcome, not least that patients themselves will not resist new mediated arrangements for accessing specialist care and advice. There have then been numerous studies conducted to assess telemedicine in respect varying degrees of ‘patient satisfaction’ (Carr-Hill, 1992). Contentiously, many such studies have been heavily criticised for their lack of rigour and for generating data which is of little value in genuinely determining how telemedicine is being received by both clinical and lay users (Mair and Whitten, 2000). Concluding Discussion The UK Telemedicine case can clearly be seen to represent an area of innovation in which actors have placed particular emphasis on the need to both animate and coordinate expectations at a more cosmopolitan level. This is particularly the case because the telemedical concept itself is largely a generic set of propositions about the potential organization of healthcare with a seemingly limitless number of possibilities. Telemedicine per se is as diverse as the clinical and healthcare context itself. Hence, because the definitional scope of telemedicine is so broad, innovation actors have found themselves having to put considerable investment into animating scenarios and a sense of opportunity at the cosmopolitan and public policy level. That is to say, industry finds itself in the role of ‘hand-holding’ healthcare actors through various opportunities for the innovative application of telemedicine in clinical contexts. Although, this does not mean that agenda-setting is the exclusive preserve of firms. Rather, specialist clinical constituencies too have had to engage in a number of initiatives whereby relationships can be fostered and relevant knowledge sourced. On the whole, this has resulted in an extremely high profile for telemedicine in public policy discourse and government White Papers on the near term (<2005) future of the UK healthcare context. Another reason for a high degree of FOCA activity by local innovative actors is related to the changing composition of the configurational relationships between UK telemedical actors. That is, both industry itself and the NHS in particular exhibit an acute degree of fragmentation that is responsible for stifling innovative and cooperative activity. Taking industry first, in the immediate period following the first UK Foresight rounds in 1995 many of the larger US and UK healthcare ICT actors dedicated substantial investment in developing systems for the NHS in the anticipation of substantial new market opportunities. At this time, telemedicine was seen to be an as yet untapped resource which the NHS and related services were poised to exploit. Whilst these expectations remained high, the cumbersome realities of procurement bureaucracy and tendering arrangements led to increasing disaffection amongst the larger ICT vendors. Even if industrial actors managed to secure contracts (after lengthy tendering procedures), they were characterized by acute insecurities. With very little slack in the financial system, scarce health service revenues are subject to redistribution at a moments notice as new and unexpected resource demands arise. By 1997/98 much of the early interest by larger ICT firms had been scaled down to reflect the actual rather than ideal value of UK’s telemedical market. In turn, this has created greater room for more highly specialized-local SMEs. In general, these actors tend to service the requirements of specialist clinical services. Opportunities for creating networks are highly flexible and numerous given that relationships between ICT vendors and purchasers are relatively recent and not based on long-term service arrangements. In sum, a high degree of fragmentation, and loose configurational relationships in addition to a loose definitional identity for the telemedical product itself has necessitated a high degree of FOCA activity. That is, exploiting the flexibility of the telemedical market relies on a considerable amount of activity whereby actors can demonstrate potential applications and establish new relationships. S&T Development

Promise Telemedicine is considered to be intrinsic the integration of healthcare services

Stage of Development

Attached, enhancing, extending practices

Range of Agreement about the future

Relatively diffuse definition. Relatively little consensus beyond circles of enthusiasts regarding the solution value of telemedicine

Configuration Formality of actor relationships

Telemedicine has been instrumental in cleaving the NHS information agenda away from

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relationships

information agenda away from managerialists/administrative connotations.

Binding Rules

Whilst confidentiality is still a concern, greater emphasis is placed on the medico legal implications of mediated (compared to face-to-face) diagnosis and treatment

Resource Dependencies

Chronic long-term underinvestment in information technology implementation. Resulting in a very poor secondary care basis for implementation. Firms complain of very instable contract relationships with healthcare providers.

Durability of relationships

Relationships are relatively short-lived between healthcare providers and ICT firms with many larger firms scaling down their initial investment in the sector. The instability of contractual relationships being one feature of this.

Innovation Management

Product development

Larger ICT firms are now cautious – greater room for smaller SMEs and commercial opportunism as a result Department of Health has been active in setting targets but criticised for not providing enough guidance.

Users of Importance

Considerable concern over ‘patient satisfaction’

Need

Need for EPR is very loosely defined because its solution value is distributed very unclearly across numerous potential applications

FOCA Role of Foresight Telemedicine and health informatics had a high profile in the first round of the UK’s foresight exercises There has been intensive activity – primarily by enthusiasts – to raise the profile of telemedical opportunities. Discussion about telemedicine’s ‘future’ has been an important element in the ‘hand-holding’ between firms and specialist services

Brief Discussion of Base Data The data set used to inform our assessment of the telemedicine in the UK is drawn from a number of complementary sources, providing for a substantive appraisal of the current institutional and technical arrangements through which the area is emerging. Our data is composed of: Interviews with four main constituencies including health policy (managerial and executive); clinicians; public research; commercial R&D actors. Interviews comprised roughly 3 persons per constituency. This includes a targeted case study of a telemedical project that has been developed by secondary care-based dermatologists. Secondary literatures including clinical peer journals, healthcare policy literatures, social science commentaries and official legal/public policy reports (see references at the end of this document). Workshops and symposia on Healthcare IT, telemedicine and EPR Ongoing assessment of and participation in the UK’s telemedicine virtual email discussion list.

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References Audit Commission (1996) The Hospital Information Support System Initiative. Press Notice, 36/96. Carr-Hill (1992) The measurement of patient satisfaction. Journal of Public Health Medicine, 14,

pp236 -249. Curry, R.G. and Norris, A.C. (1997) A review and assessment of telecare activity in the UK and

recommendation for development. Report to the UK Department of Health. Department of Health, (1998) National Database of Telemedicine: a database of telemedicine and

telecare projects in the UK (University of Portsmouth: Health Care Computing Group). www.dis.port.ac.uk/ndtm/index.htm

Institute of Health Service Management (1998) Telemedicine and Telecare: Impact on Health Care (Oxon: Institute of Health Service Management).

Heijningen, R I van, G H H Mannaerts, L F A Steffens (2000) Medicolegal aspects of international teleconsultancy, The Lancet, 355, 9205, p757

Larkin, M. (1997) Telemedicine finds its place in the real world, The Lancet, 350, 9078, p646 Mair, F. and Whitten, P. (2000) Systematic review of studies of patient satisfaction with telemedicine.

British Medical Journal, 320, pp1517-1520. Peckham, M. (1999) National Health Service: Developing the National Health Service: A Model for

Public Services. The Lancet, 354, pp1539­45 Rappert, B. and Brown, N. (2000) Putting the future in its place: comparing innovation moments in

genetic diagnostics and telemedicine. New Genetics and Society, 19, 1, pp49-75. Stanberry, B. (1998) The legal and ethical aspects of telemedicine. Royal Society of Medicine

Publishers, London. Tachakra, S. et al (1996) ‘Confidentiality and ethics in telemedicine’ Journal of Telemedicine and

Telecare 2, 68-71. Wootton, R. (1996) Telemedicine: a cautious welcome. British Medical Journal, 313, pp1375-1377. Wyatt, J. (1996) Commentary: Telemedicine trials – Clinical pull or Technology push? British Medical

Journal, 313, pp1380-1381

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Genetic Diagnostics in the UK A Case Study

Introduction Genetic diagnostics in the UK has, as elsewhere, become a major area for science policy debate, clinical intervention, and public health policy, especially in terms of its links to genetic screening. Much of the diagnostics work relates to the 17 regional clinical testing services provided by the NHS in collaboration with (41 nationally) laboratories based in universities and NHS-funded clinical research schools. Diagnostic services are either NHS funded or if funded through research grants, dependent on access to at-risk families and patient organisations. There is considerable emphasis placed on prenatal diagnosis and termination of pregnancy, pre-implantation genetic diagnostics (for embryo selection) and interventions related to the diagnosis and replacement of missing genes (as in haemophilia for example). Not surprisingly, a number of studies by UK social scientists have undertaken some exploratory work in these fields (see e.g. Clarke, 1995; Cox and McKellen, 1999; Kerr and Cunningham-Burley, 1997; Richards 1996)56. Wider and more ambitious forms of testing and screening - including whole population screening for high penetrance susceptibility genes - are under development as is work on ‘genetic profiling’ of individuals through the development of single nucleotide polymorphism maps (SNP, pronounced ‘snips’) which can reveal mutations that are capable of conferring a risk for a disease. The UK’s Wellcome Trust in collaboration with a number of UK and US firms has established The SNP Consortium to build a SNP map of the human genome. These processes have inevitably led to a broadening and deepening of the genetics diagnostics network and its constituent groups, beyond the traditional field of clinical genetics (itself much too small to cope with the growing demand for expertise in the field). So for example, the NHS genetic centres have sought closer collaboration with oncologists and pathologists, while links with the major pharmaceuticals (especially UK and US based) continue to grow. A key concern for these firms is what will be the public response to genetic testing and, from an income generation perspective, how this will shape the market for diagnostic tests. In responding to this, the firms have broadened their own information sources to include expertise from the social and policy sciences. Future Oriented Co-ordination Activity As elsewhere in the accompanying Appendices, we can draw on the conceptual framework developed in the FORMAKIN project to elaborate the variety and extent of expectations that have been associated with genetics diagnostics and mobilised through what we noted earlier in the body of this Report (Ch 4) is a relatively close knit configuration. The ‘new genetics’ associated with current UK research rests on a series of promises in three main areas:

• the diagnosis and treatment of multifactorial diseases: more and more medicine will be centred around tests for late-onset multi-factorial diseases which tell us something about diseases individuals might get in the future.

• the development of target disorders: key to this process is the move from looking at

clinical manifestations to underlying genetic causes of diseases.

• the targeting of treatments: this refers to the possibility of targeted treatments through pharmacogenomics.

56A. Clarke (1995) Population screening for genetic susceptibility to disease, British Medical Journal, vol 311, pp 35-38; S. Cox and W. McKellen (1999) There’s this thing in our family: predictive testing and the construction of risk for Huntingdon Disease’, Sociology of Health and Illness, vol 21 pp 622-46; A. Kerr, S. Cunningham-Burley and A. Amos 91997) The new genetics: professionals’ discursive boundaries’, Sociological Review vol 35, pp 270-303; M. Richards (1996) Lay and professional knowledge of genetics and inheritance’ Public Understanding of Science, vol 5 217-230.

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The latest Foresight document emerging from the UK’s Healthcare Panel (DTI 2000)57anticipates a number of steps that will need to be taken across the genetics innovation and clinical networks to achieve these goals. First, that there must be ‘a well-defined criteria for genetic testing and screening’ (p.32), since the social and clinical value of both is - in some contexts at least - subject to question. Secondly, a move towards a more effective integration of clinical and genetic information is needed which, it is argued, will require quite extensive changes including

‘..a strong presence in clinical research/documentation, efficient information systems, good clinical trials networks, well developed knowledge management, methods for data extraction and analysis, and the build up of a tissues resource’ (p. 35).

Thirdly, the Panel recommends the ‘formation of a national strategy for clinical trials’ which will require much greater co-ordination among public, private and charitable actors than at present, along with a ‘DNA-based drug surveillance system’ for the post-monitoring of patients whose blood has been stored. Indeed, such are the co-ordinative demands managing this new national enterprise brings that the Panel calls for the establishing of a new ‘Clinical Research Organisation’. It should be evident that such ambitions and the implications they have for FOCA depend upon a configuration that has strong aggregative and close-knit relations, even though it is also clear that new interdependencies will have to be built across clinical (especially primary) and research communities to achieve the goals outlined above. What does our data tell us about the configuration and so the degree to which such ambitions are likely to succeed? Configuration: Genetic Diagnostics in the UK In the UK, genetic diagnostics has a strong, resource intensive network aligning the pharmaceutical, academic, health care and government constituencies that are closely involved in arrangements for the production and sourcing of data and the development of clinical trials. Extensive formal and informal links, allied to a high degree of contractual and proprietorial rights reflects both strong steering and aggregation processes at work. As one company respondent observed: ‘What we’re really saying is that within the UK Health and life sciences field there is academic research, there is industrial research, there’s big companies, there’s little companies, there’s the NHS which is very important. The whole thing is, if you like, an ecosystem which is all inter-related, interdependent’. These relationships build upon established research and patronage arrangements between the pharmaceutical industry, academia and health care, particularly in the sourcing of genetic data and initiating clinical trials. However, while the network as such is relatively close-knit, there is considerable attention being given to enrolling the public and patient groups into the genetics agenda, since they are seen as most likely sources of resistance to the new technology (not least as a result of the migration of risk perception from other fields, such as GM crops). Much greater effort is seen to be required in mobilising lay and patient actors to share this agenda: in this situation, Foresight has been used to both confirm and extend the technical agenda, but rather than being (as some years ago) focussed on a bioscience set of interests, it is now deployed to help cope with the social management of public anxieties and the incorporation of genetics into health care itself. The Health Care Panel’s recommendations are, in this regard, strikingly different compared with those of the previous Foresight documents in their being driven by a concern over the effective social management of the new genetics rather than the promotion of a strong technological agenda (which characterised the report in 1996). As such the Panel reflects a wider attempt in UK health policy circles to create new ethical and social prescriptions for managing developments in the field. These developments are regarded with much greater uncertainty than had been the case. There is such a high degree of uncertainty, negotiation around binding rules has been intense, though relatively open, and revisable over time.

57 DTI Healthcare Panel (2000) Health Care, Department of Trade and Industry Pub 5201/12/00/NP.

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So, for example, the Panel argues for ‘clarification’ on how genetic information ‘might be used and what ethical, legal and social issues are likely to arise’ (p 33). In relation to this, the recent (1999) case in Iceland where deCODE, a private company, secured access to the country’s national DNA register, has caused considerable debate in the UK and elsewhere. As a result, an equivalent UK database currently under construction (UK Population Biomedical Collection) is, unlike the situation in Iceland, to be publicly owned and no company will be allowed exclusive commercial access to it. Large pharmaceutical firms (such as Glaxo Wellcome, SmithKline Beecham - now merged as Glaxo SmithKline) have played a prominent part in the UK Foresight process. On the other hand, small biotechnology/diagnostics firms in the UK saw little or no importance in Foresight, which took too long a time frame for most. Participation for the larger firms was seen as a means towards having some determining affect on the way in which certain issues - such as the production of and access to NHS genetic databases (Fears and Poste, 1999)58 - enter the national policy agenda. In turn, it has also been instrumental in shaping the sector’s responsiveness to other constituencies such as the health service and public research. However, given that the pharmaceutical industry is highly adapted to operating with long term conditions in view, it has little use for another Foresight role, the anticipation of longer term developments and needs: as a member of the Panel observed in interview:

‘Foresight is about trying to take a longer-term view: well apparently it takes 13 years or something to develop a drug to bring it to market. So you don’t need to go around lecturing these people about taking a long term view...They’re right up there...it’s actually the instincts of foresight in that group of people’.

While such ‘instincts’ may be well developed in relation to innovation management for long term product development in fields such as genetic diagnostics, those within the larger UK firm we spoke to, Pharmaco, acknowledge that their instincts for managing the social future of diagnostics were less refined: as one interviewee said:

‘...many of the issues we’re facing are ethical and sociological....It’s ethical and sociological issues which are important. We’ve had to basically rewrite our understanding of research’.

And it is here too that the Foresight arena can be used to widen access to new networks where ethical and sociological expertise can be secured. The problem for Pharmaco was to find which of these new contacts could be best regarded as 'relevant networks' and then, once identified, how to access them. This has posed new external uncertainties which can only be managed if the firm is able to mobilise its own agenda across other actors while keeping close watch on health agendas set by them: it is hardly surprising, therefore, that Pharmaco actively networks with social scientists and ethicists to identify the likely factors which may shape the protocols adopted by the NHS. Here, knowledge sourcing inevitably encourages trans-organisational linkage but one where the durability and 'binding rules' of actors' relationships are still to be built. One advantage that larger firms have over SMEs is their ability to fund expensive clinical trials and to do so through access not only to hospital clinician’s but also members of patient charities, and this was found to be particularly strong in relation to single gene disorders, such as Huntingdon’s, or Cystic Fibrosis. As a Pharmaco respondent observed:

‘...the future of diagnostics is intellectual property, associating the genetic marker with a particular clinical outcome. The expensive part of that is getting clinical information and that’s why I think small companies are going to have a problem’. Here the resource interdependencies of the firm/NHS relation become clear. Moreover, this relationship is one that depends on firms monitoring NHS strategy towards diagnostics in the wider context of health R&D and delivery. As another senior manager at Pharmaco noted: ‘...people in the organisation do read what goes on in the NHS...to get a sense of how diseases are being treated, what are the new findings,...what does clinical practice look like, and how the NHS is dealing with its budget...Guidelines are emerging for the treatment of disease all the time’.

58R. Fears and G. Poste (1999) ‘Genome valley to general hospital’, Science and Public Affairs, December, p 28.

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This reference to NHS budgetary priorities and their impact on health delivery takes us to the more clinical end of the configuration. Here genetic diagnostics delivery at the point of care can take various forms, from the more modest blood sample that a GP sends to one of the 17 regional centres or national labs for testing, to the much more ambitious (and yet to be developed for practical clinical use) ‘gene chip’ that can scan for susceptibility to gene disorders linked to disease (see Work Package 3, section 1.3 for a full discussion of this). In both cases, General Practitioners will have to play an increasing role since at present the ratio of consultant geneticists to general practitioners in the UK is about 500:1 (see Sweeney, 1997)59. Yet, both our primary data from fieldwork interviews in Health Trusts and secondary data recently published elsewhere indicate that GPs are typically reluctant to take on more genetics related work, for which they have not only little or no formal training but little philosophical inclination to do so either. This reflects their anxiety over the so-called ‘therapeutic gap’ that yawns between diagnostics and some form of therapeutic intervention to correct a genetic disorder. A similar point has been noted by Kumar and Gantley (1999)60 when they say: ‘Policy makers are wrong to assume that education, training, and decision support systems will ensure that general practitioners are willing to implement the new genetics. Resistance to implementing new genetic knowledge is more than defensive fence building; it reflects a commitment to holism that is sustained by current generalist training and practice in Britain and which may be diminished by further specialisation’ (p1412). While there is other evidence that suggests that GPs may welcome the opportunity through training to extend their medical skills61, it is clear that this element of the configuration has been much more difficult to build new binding rules and durable relations. Not surprisingly, we have seen the emergence of a new actor in the network - the genetic counsellor - as the solution to this part of the health delivery puzzle. The organisational location of these counsellors will be important however, and Trust respondents argued that they would be best placed in the regional centres but formally linked to local Primary Care Groups or Trusts. Discussion - General character of Genetic Diagnostics in the UK The case study summary sketched out above of the UK genetic diagnostics configuration can be seen to lend support to van Lente and Rip’s (1998) argument that ‘the key phenomenon [shaping innovation agendas] is the way in which actors position themselves and others in relation to a future technology’62. This positioning will reflect actors’ local priorities, but priorities that in turn reflect patterns of association and interdependency with other actors in the configuration. The following Chart tries to capture this variation through its summary of the four dimensions informing innovation within the genetics diagnostics field, especially in its attention to key constituencies within the configurational dimension. For (especially larger) firms, localised agendas map onto and generate interdependencies with academic and other public sector research groups, but GPs have found themselves occupying a more ambivalent, and no doubt for some, even hostile, position in relation to the new technology.

59B. Sweeney (1997) Genetic advances: great promise tempered with concern. J R Coll Gen Pract 44: 544. 60S. Kumar and M. Gantley (1999) Tensions between policy makers and general practitioners in implementing new genetics: grounded theory interview study, BMJ 1999;319:1410-1413 (27 November ). 61N. Qureshi (1999) Summary of WONCA 98 workshop: Family doctors talk genetics. Eur J Gen Pract, 5(2):33-34. 62H. van Lente and A. Rip (1998) ‘The rise of membrane technology’, Social Studies of Science, vol 28, No. 2, p. 244.

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S&T DEVELOPMENT

Promise Profound revolution often evoked Highly emotive promise promoted on the basis of patients’ hopes Promise relates to a generalised vision

Stage of development Embryonic

Newness Revolutionary

Range of agreement about the future

Wide ranging forecasts

Alternative scenarios Wide ranging diversity of scenarios Distribution of shared vision Uneven – specialist based Firmness of future and

maturity of expectations High degree of uncertainty particularly around social, ethical and legal issues Public and patient expectations of importance Uncertainty surrounding the public / private distribution of genetic data High degree of uncertainty around future fiscal demands on health care

CONFIGURATION Formality of a set of actors Emphasising alignment with patients and publics

Pre-existing large-scale industrial actors with scope for niche activity for SMEs

Extensive R&D networks developing novel research areas (e.g. SNPs & pharmacogenetics)

Binding rules Social and ethical uncertainties are central to the mobilisation of actors - constraints on securing support of GPs in the primary sector Focused on creating new ethical and social prescriptions for managing new developments Standards actively being shaped so innovation taken up

Resource Dependencies Resource intensive – highly concentrated in networks

Durability of relationships

Long-standing Network Linkage - Extensive diversity in the formality and informality of their links

INNOVATION MANAGEMENT

Product development Depends upon increased global standardisation of gene-based technologies

Timeframes Long lead timeframes – protracted product cycle Industry structure Macro industrial actors User of importance Considerable emphasis on patients and the public Need Refining and creating relatively new needs Market Mobilising shared expectations of distant

prospective market FOCA Role of Foresight Plays an important symbolic role for large Pharma

actors (esp. in UK context) FOCA is pervasive for all actors

The deepening and widening of the core Foresight network is apparent in the change in name of the Foresight Panel: in 1998 the UK dropped reference to 'Technology' from the overall programme title, and with respect to health switched from a 'Health and Life Sciences Panel’ to a 'Healthcare Panel', reflecting changes of emphasis in the content and actor-orientation of the programme (from a science to a health delivery constituency), the way the future is to be perceived, and whom it seeks to mobilise. Where, as in the case of genetic diagnostics, an emergent field is seen to have a high symbolic value (constructed as being of intrinsically revolutionary import) for science and technology as a whole, Foresight can act as a vehicle through which this could be articulated across a much wider range of constituencies, relatively rapidly and through the use of new institutional and organisational conduits and procedures. Indeed, in the 1999/2000 exercise a whole range of ‘Task Forces’ were created to

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contribute to the core Panel’s review of the healthcare field. These inevitably fostered new network linkages, though there was no group specifically responsible for genetic diagnostics itself. Finally, the relatively close knit network of the UK’s genetic diagnostics configuration may well be shaken in the future - as all configurations can be - by new developments that disturb the binding rules and resource dependencies that prevail. This possibility may become a reality if the network fails to manage the recent 9 November 2000) announcement by the British government that insurance companies can require the results of genetic tests. The researcher groups within the network are especially concerned about this. As the Times observed: Researchers from the Sanger Centre, the laboratory that has sequenced a third of the human genome, have attacked the Government's decision to allow insurance companies to demand the results of genetic tests. The researchers believe that the ruling will lead to a shortage of volunteers and will drive research overseas as Britain is the only country to approve the use of genetic testing for insurance purposes. (27 November 2000 p.12) This presupposes, of course, that medical tests will become increasingly available for genetic predisposition and multifactorial disease, beyond the single gene disorders that insurance companies already (through family history) tend to have information about. As we noted above, such technical developments may be some way off, and at the GP level, are resisted because of the ‘therapeutic gap’. Even so, the ruling will put pressure on the configurational network in the UK, in a way not experienced in either Spain or the Netherlands. Summary of Base Data sources The data set on which we have developed the Case Study of genetic diagnostics is drawn from a number of sources to include the core constituencies of interest in the field. Some of the respondents were also used as sources of information for development in the field of gene therapy, so some of the sample figures in the gene therapy case study too. The primary material is based on interviews with respondents from the following: Foresight-related: members of the Foresight Health and Life Sciences Panel, the Office of Science

and Technology (8 interviews), plus privileged access to the internal Minute of the Foresight Panel itself

Government/ministry: members from the Department of Health (London), the NHS R&D Executive (Leeds) (5 interviews)

Directors of four Public Health Authorities (Cambridge, Suffolk, East Norfolk, North West Anglia), and junior staff (8 interviews)

Firms based in the pharmaceutical and biotechnology sectors (the latter made up of smaller diagnostics firms) (8 interviews).

Members of the industry association, the Diagnostics Club, which SATSU (the UK partner) joined for three years to access information close to the product and process sides of development (3 interviews)

In addition to these primary sources, a wide range of secondary sources were consulted relating specifically to genetic diagnostics from medical, social science and policy-related journals. Web-based material was also secured, especially through consulting the international genetics based associations and discussion groups.

References and secondary sources A. Clarke (1995) Population screening for genetic susceptibility to disease, British Medical Journal, vol

311, pp 35-38 Cook, C., Ling, T. and Zimmern, R. (2001) The Public Policy Implications of the New Human Genetics

London: Nuffield Trust S. Cox and W. McKellen (1999) There’s this thing in our family: predictive testing and the construction

of risk for Huntingdon Disease’, Sociology of Health and Illness, vol 21 pp 622-46 DTI Healthcare Panel (2000) Health Care, Department of Trade and Industry Pub 5201/12/00/NP. R. Fears and G. Poste (1999) ‘Genome valley to general hospital’, Science and Public Affairs,

December, p 28.

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A. Franks (et al.) (1995) Clinical genetics: an assessment of health needs, Nuffield Institute for Health. Leeds.

Human Genetics Comission (2000) Whose hand on your genes? available at: http://www.doh.gov.uk/hgc/business_consultations2.htm

J. Kaye and P. Martin, (2000) Safeguards for research using large scale DNA collections, British Medical Journal, 321, 1146-1149.

A. Kerr, S. Cunningham-Burley and A. Amos (1997) The new genetics: professionals’ discursive boundaries’, Sociological Review vol 35, pp 270-303

S. Kumar and M. Gantley (1999) Tensions between policy makers and general practitioners in implementing new genetics: grounded theory interview study, BMJ 1999;319:1410-1413 (27 November).

H. van Lente and A. Rip (1998) ‘The rise of membrane technology’, Social Studies of Science, vol 28, no. 2, p. 244.

N. Qureshi (1999) Summary of WONCA 98 workshop: Family doctors talk genetics. Eur J Gen Pract, 5(2):33-34.

M. Richards (1996) Lay and professional knowledge of genetics and inheritance’ Public Understanding of Science, vol 5 217-230.

Royal College of Physicians (1996) Clinical genetics services into the 21st century, London. P. Spallone (1992) Generation Games: Genetic Engineering and the Future of our Lives, The

Women’s Press, London. B. Sweeney (1997) Genetic advances: great promise tempered with concern. J R Coll Gen Pract 44:

544. The Gene Media Forum (2000) Paradise Now: Picturing the Genetic Revolution. What can we

expect?, September 20, London.

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Gene Therapy in the UK A Case Study

Introduction As noted in Chapter 5 in our first thematic discussion of the role of Foresight - in this case to mobilise new expectations about an existing field of research - gene therapy in the UK has, in comparison with genetic diagnostics, a more limited, but close knit R&D network, primarily located in universities, clinical schools and a number of specialist firms. These dedicated gene therapy firms are often spun off from larger health research corporations (Phogen, for example, is a spin-off of the immunology business Cantab Pharmaceuticals based on the Cambridge science park). Even so, within the UK their absolute number is relatively small (n=5 in December 2000)63 and the European total only reaches 27 firms. Only one major pharmaceutical, Glaxo Wellcome (now Glaxo SmithKline) is conducting trials, and these are relatively modest. There are in addition a number of patient associations - notably the Cystic Fibrosis Trust and one or two other single-gene charities - that have had a prominent role to play in trying to translate gene therapy research into the clinical setting. It was also noted in Chapter 5 how the death in September 1999 of Jesse Gelsinger, a patient undergoing gene therapy at the Pennsylvania Institute for Gene Therapy, was a major blow to the field internationally, made somewhat worse following a report in January 2000 by the NIH on safety violations which led to the indefinite suspension of the seven major gene therapy trials at the Institute. The 40 UK trials - supervised by the Gene Therapy Advisory Committee (GTAC) - covering about 350 patients, are still underway, however, and regarded as subject to much tighter control than the Pennsylvania ones. Nevertheless, the GTAC did move to introduce a new confidential mechanism under the aegis of the NHS’s Central Register to provide for the long-term follow-up of UK participants in gene therapy research. Most of the (primarily Phase 1 - i.e. measuring safety not efficacy) trials are being conducted in the public sector (only 3 in the private sector), and most are located at a number of specialist clinical research labs (such as the Royal Marsden Hospital, Guys Hospital, the Beatson Oncology Centre, Glasgow, and the MRC Genetics Unit). Future Oriented Co-ordination Activity As in the accompanying Appendices, we can draw on the conceptual framework developed in the FORMAKIN project to explore the promises and expectations the field of gene therapy has held. Since its inception in the early 1990s, the field has been based on two core aspirations, namely, the modification or correction of defective genes associated with chronic disease. The early work was located primarily in a number of specialist investigative centres that had a history of clinical genetics and strong disease foci - especially in cancer-related issues. Indeed the focus on oncology continues today and provided the principal area of interest for trial applications to GTAC during 2000. As noted in the first Thematic case discussed in Chapter 5 expectations for the field in the early 1990s were high and were effectively mobilised within the major health and life sciences funding councils, especially the Medical Research Council. This new money was to be orchestrated through the establishing of three dedicated centres that were charged with the task of developing synthetic vectors for the delivery of DNA to specific sites, both for single gene disorders (such as cystic fibrosis) and cancers. It is, even so, interesting to note that in the first Foresight Health and Life Sciences Report published in 1995 gene therapy receives only a very brief single sentence - viz. ‘There are also several groups researching methods for gene therapy’ (p 35) - and nothing more. In contrast there are two, relatively lengthy sections devoted exclusively to the promise and needs of genetic diagnostics. In the more recent (December 2000) report, while diagnostics again takes a prominent position, there is virtually nothing on gene therapy itself: reference is made to ‘gene therapy’ being ‘perhaps more than a decade away’ from being realised, in contrast to the existing availability of some genetic tests. It would appear that despite the earlier claims, the UK gene therapy network still has much to do to retrieve what, in the early 90s, was regarded as a very favored position in the health innovation agenda.

Configuration: Gene Therapy in the UK Compared with genetic diagnostics the gene therapy network is relatively close knit, small in number and funding terms and subject to high levels of experimental transparency and regulation. There is, of 63The five firms are Cobra, Eurogene, Neuro Vex, Oxford Biomedica, and Phogen. Cobra, established in 1992 is the largest of these with 60 staff.

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course, a technical link between the two fields - for example, understanding and diagnosing the possibility of a patient being susceptible to a particular form of breast cancer will mean that such information can also be used to determine pathways down which vectors can travel to help correct the mutant gene in the first place. At the same time, the uncertainties surrounding diagnostics - such as the tentative link between apolipoprotein E (ApoE) and Alzheimer’s disease - carry through to gene therapy, since the target site remains unclear. These uncertainties are less apparent in research on single-gene disorders, where patient groups in particular drive the search for therapeutic and not merely palliative care: as the UK Cystic Fibrosis Trust declares:

Breakthroughs in gene therapy mean that we are no longer talking about "if" a cure is found but "when". But it is still crucial to develop ways to improve current treatments.64

This view was not, however, always reflected in comments some respondents from other associations made. Most importantly, the patients’ groups see their role as one in which they must represent the best interests of the patient, and while therapy might in theory make sense, the credibility and so legitimacy of the associations depends on their being as disinterested and impartial towards as they are seen to be supportive of possible new treatments. Respondents from the associations are extremely protective of their reputations and careful about what position they adopt in public arenas: as a respondent from the Alzheimer’s Society observed:

‘...We need to know what we think...We were getting lobbied by the biotech industry and the press and all sorts of people, so we’ve actually asked people who we knew are experts in the field and said ‘What do your think about this issue [gene therapy], and they came back and said ‘ ...it’s hype’. So we recently met with the people who were lobbying us and we said ‘You’ve got to convince us that it’s an issue because we’re just not seeing it as an issue and its not relevant’.

Such remarks indicate the importance of building shared expectations and choosing those which a variety of groups can subscribe to. The four associations (two linked with single gene disease and two multifactorial genetic disease) we spoke to have strong cross linkages, not so much in relation to sharing a common knowledge base, but in sharing a common political line on patient interests. This means formal ties between the associations and clinical researchers varies considerably, with the single gene groups showing stronger links than the rest: for example, the CF Trust currently supports 14 gene therapy clinical research projects at various sites across the UK at a cost of over £3.6m. In contrast, The Alzheimer’s Society and Diabetes UK (formerly the British Diabetes Association) do not support any gene therapy research. UK companies - as most other European firms - have invested more heavily in viral rather than non-viral vector technology, a reversal of the situation found in the mid 1990s. The change is reported to result from difficulties in stabilising and making effective non-viral vectors. Most of the firms target cancer, cardiovascular, auto-immune diseases and disorders of the central nervous system, and none have yet to develop late stage clinical trials (though this is true of most European firms). Academic researchers in UK gene therapy have been highly productive with published papers accounting for over 30% of all European originated publications, and. on average, filing three patents on their research. In part this also reflects reasonably strong links between clinical investigators and firms, both UK and US based with just over 60% linked in this way; corporate funding usually initiated by the firms themselves supports both basic research and clinical trialing, though much of the costs of both are borne by health funding agencies. While basic research is an important element of these links, the future impact of gene therapy will depend on vector development and production and here corporations and academics have been keen to contribute towards the establishment of wider cosmopolitan standards shared internationally. This has helped to stabilise the field as well as to provide a better platform for more effective intellectual property rights since patent filing can be more effectively framed and robust where it embraces wider product and process standards.

64Cystic Fibrosis Trust, Web page at http://www.cftrust.org.uk/ms.htm

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Discussion General character of Gene therapy in the UK In light of the summary of the field above, it should be clear that gene therapy, after its early initial promise, has been repositioned for much longer term delivery, partly because of technical problems in stabilising vector delivery systems, but also in part because of alternative developments which have emerged through which genetic intervention may be more easily secured. For example, there is considerable momentum building around stem cell research and the December decision by the UK government to permit human stem cell work on embryos (regulated by the Human Fertilisation and Embryology Authority) has accelerated research in the area. There is a strong perception that the immunological and therefore safety concerns associated with gene therapy can be shortcuited by a genetic approach which overcomes the immunological response problem from the outset. No doubt, those working in gene therapy will have to respond to the rapid growth of stem cell based R&D and continue to mobilise long term support for the field within that context. For the various groups involved, however, it appears that formal Foresight activities have had little affect on configurational relations: only one of the patient groups, for example, had had any formal links with the Foresight programme (where the Chief Executive of the Alzheimer’s Society was a member of the neuropsychiatry Task Force), and one of the gene therapy firms (Cobra) members sat on the Human Genome Task Force. Patient charities were much more concerned with the interface between patient and clinical delivery systems and how these would be changing in the future, especially with the important shifts in the provision of primary care and the spread of primary care groups and now primary care Trusts (PCTs): as one respondent observed,

‘... changes in primary care with all the new stuff that is PCGs and PCTs will be the key route for dementia care to be improved... we’ve sort of translated all the [DoH]documents around primary care into what’s called ‘A Rough Guide to the New NHS’ and that’s gone to all our branches...It’s a fantastic basic introduction to what’s happening and a kind of ten point plan how to work with your PCG’.

The Foresight Human Genome Task Force was again (as with the case in the earlier 1995 Foresight Report) more concerned with the impact of both genetic diagnostics and pharmacogenetics than gene therapy which, as a discrete issue, does not appear on the listing of key areas for Foresight activity.65 Gene delivery is in fact related to developments in nanotechnology (through the promise of nanotechnology systems acting as ‘gene jockeys’) rather than the principal current focus on viral vectors. Overall, despite its relatively small size and recent challenges to its work via regulatory agencies, the gene therapy network in the UK is relatively stable and close knit. It is very likely, however, that it will become a more heterogeneous configuration in the near future as its repositioning in a wider range of clinical sciences along with the arrival of both stem cell and pharmacogenetics research opens the field to new innovation actors through whom new resources may be secured. It may well be that this will prompt new interest in deploying Foresight to enhance the position of gene therapy in the wider and much stronger genetic diagnostics configuration. The Chart below summarises the field in terms of our four key dimensions.

65The ‘Key issues’ which the Foresight Task Force identitifed are as follows: Integration of Genetics Issues into Health and Healthcare Planning; Volume of Genetic Data ; Speed and Accuracy of Information; Diagnostic Tests – time lag between availability of tests and medical or therapeutic intervention; Pharmacogenomics – identification of targets, lowering toxicity, reducing clinical study thus lowering costs and accelerating development; Nano-Technology Gene Jockeys; Family/Population Based Screening; Pre-competitive Exploitation of Genetic Information; Public and Professional Perceptions of Genetics; Regulatory and Ethical Frameworks.

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S&T DEVELOPMENT

Promise Profound revolution evoked in early period, now modified

Stage of development Emergent

Newness attempts to normalise GT within existing clinical sciences

Range of agreement about the future

Most in terms of ten years (2010)

Alternative scenarios Primarily limited to single gene disorders Distribution of shared vision Similar conspectus across specialists Firmness of future and maturity

of expectations High degree of uncertainty about stability of delivery systems (vectors) Public and patient expectations of importance caution over regulatory standards slowed pace of development

CONFIGURATION Formality of a set of actors field overseen by the GTAC

recent establishing of the UK gene therapy association (with links to the European GTA - the sole professional association for European GT scientists)

Binding rules Strong subscription to clinical procedures

and standards for safety Moratorium on germline gene therapy Establishment in 1999 of the Joint Medical Genetics Committee to maintain standards of clinical application of genetics in medicine GTAC plays key role in regulating the field

Resource Dependencies Resource intensive Heavily dependent on public and (single gene) charitable funding for trials Need for more training of both clinicians and public health managers

Durability of relationships

Strongly dependent on links between key GT centres New links opening between GT researchers and specialists in physiology and biochemistry some path dependency emerging around vectors driven by private investment

INNOVATION MANAGEMENT

Product development Depends upon increased global standardisation of gene-based technologies

Timeframes Long lead timeframes – protracted product cycle

Industry structure Mostly smaller firms involved User of importance Considerable emphasis on patients and the

public Need Redefining utility and need through

repositioning GT in wider clinical sciences Market Mobilising shared expectations of

therapeutic intervention FOCA Role of Foresight Limited - some sense in which it can help

redefine the field Little formal Foresight activity/investment in

the field

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Summary of Base Data sources The data set on which we have developed the Case Study of gene therapy is drawn from a number of sources to include the core constituencies of interest in the field. Some of the respondents were also used as sources of information for development in the field of genetic diagnostics so a few of the sample below figures in the genetic diagnostics case study too( principally in regard to the first two groups). The primary material is based on interviews with respondents from the following:

Foresight-related: members of the Foresight Health and Life Sciences Panel, the Office of Science and Technology (8 interviews) Government/ministry: members from the Department of Health (London) (3 interviews) Representatives from the following Patient charities: the Cystic Fibrosis Trust, The Alzheimer’s Society, Diabetes UK, and the Cancer Research Campaign (6 interviews) Gene therapy researchers in UK universities (3 interviews) Members of small gene therapy firms (2 interviews)

In addition to these primary sources, secondary sources were consulted relating gene therapy from medical, social science and policy-related journals. Web-based material was also secured, especially through consulting the international genetics based associations and discussion groups.

References W. F Anderson (1998) Gene Therapy: The Best of Times, the Worst of Times, Science 288: 627-629. J. Durant et al (eds.) (1999) Biotechnology in the Public Sphere: A European Sourcebook W. H. Günzberg and B. Salmons (1996) Gene Transfer into Mammalian Cells: The Road to Human

Gene Therapy, The Genetic Engineer and Biotechnologist vol 16, no. 2, 81-98. K.K. Jain (2000) A Special Report on Gene Therapy Companies, John Wiley & Sons, London. P.A. Martin (1995) The American Gene Therapy Industry and the Social Shaping of a New

Technology, New Genetics and Society, vol 15 155-168. P.A. Martin and S. Crowther (2000) Gene Therapy in Europe: Exploitation and Commercial

Development, BIOTECH Programme, European Commission, Brussels A. McCarthy (2000) Pharmacogenetics: implications for drug development, patients and society, New

Genetics & Society, Volume: 19, Number: 2: 135-143 A. Meager (ed.) (2000) Gene Therapy Technologies, Applications and Regulations From Laboratory to Clinic, Wiley InterScience, London. Office of Science and Technology (OST) (1999) The framework for overseeing developments in

biotechnology: forthcoming changes New Genetics and Society, vol 18, nos. 2/3, 219-226. H. F. Willard (2000) Genomics and Gene Therapy: Artificial Chromosomes Coming to Life, Science

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