Analysis of papers from Green Paper on Genetics Advisory Panel
David King, Human Genetics Alert
28th September 2001
These papers come from a UK Department of Health advisory panel, set up by Health Secretary Alan Milburn in mid-2001. Milburn announced the Green Paper in a speech in April 2001, along with increased funding for NHS genetics services and the government's intention to ban human reproductive cloning.
Although Milburn announced that it would contain stakeholder representatives, it has no public interest representatives, such as consumer organisations. The panel is meeting in secret, in contrast to the Human Genetics Commission, the government's official advisors on human genetics policy, whose remit includes advising on NHS genetics services. In fact, the HGC is currently working on a report on the key ethical and social issues connected to personal genetic information, including its use in routine medical practice and research. Thus, whilst official ethics advisers are still debating ethical guidelines, the government is pushing ahead to take strategic policy decisions (presumably involving major expenditure), which ought to depend crucially on the outcome of ethical discussions, in a separate forum. It would appear that the government is attempting to marginalize the HGC from practical policy matters. This is consistent with the appointment to the panel of two industry representatives, and the emphasis in the documents on the needs and interests of industry. The minutes of the meeting (para 3.7, 3.8) speak of the needs of industry and advantages of industry involvement, but make no mention of possible disadvantages; such disadvantages are seen as public misperceptions, to be avoided by repositioning the chapter on industry toward the end of the paper (para 3.3).
Key issues in the documents
Research in the NHS
There is increasing interest in human genetics in having access to thousands of samples, in order to compare genetic variations with medical history and lifestyle information. The aim is discover which genes cause predispositions to complex diseases such as asthma, heart disease, arthritis. The Medical Research Council and the Wellcome Trust have announced plans for a UK National Biobank, which will collect samples from 500,000 middle-aged people. According to the MRC, access by drugs and biotechnology companies to the Biobank will be crucial to its success.
These papers confirm suspicions recently voiced in the British Medical Journal (BMJ 2001; 323: 632) that there are plans for a much larger enterprise, for which the Wellcome-MRC project may be just a pilot: the use of a national computerised system of NHS medical records by drug companies. A similar, extremely controversial system exists in Iceland, and is praised by Kirkman. The recent House of Lords Select Committee on Science and Technology report on 'Human Genetic Databases' stated that the establishment of such a national system was urgent, in order that genetic research should proceed and that the UK could exploit its unique position in genetics research. A similar argument was advanced in a paper by (then) SmithKline Beecham executives in 1999. (Science 284: 267-268). It should be noted that the construction of such a national system, which has moved very slowly until now, partly because of fears about breaches of confidentiality, would be extremely expensive. Thus, for the government, one incentive for allowing industry access would be to recoup part of the cost by charging industry fees for access.
The papers by Bobrow and Kirkman give strong indications of the direction in which key players are moving. Paragraphs 2 and 6 of Bobrow's paper show clearly that the NHS is seen as an 'R and D test bed', but immediately raises questions of consent (see below). Kirkman's paper (he is the Director of the BioIndustry Association, which represents UK biotechnology companies) reveals industry thinking in detail. The section on (NHS R&D and Industry) envisages the large scale sale of NHS patient data to industry, and talks about competition between countries to be the preferred site for such research. According to Kirkman, in order to succeed in this competition, and exploit the competitive advantage of the NHS record system, the UK should be talking to the drugs industry's working party on guidelines for genetics research, presumably in order to adapt its ethical guidelines to suit the convenience of industry.
Kirkman is also concerned about the needs of UK companies versus foreign companies, and also to maximise benefit for 'UK plc', so that it does not become a 'third world genetics country'. Thus the paper envisages a detailed regime of relationships between drugs companies and the NHS, and advocates training of NHS staff to manage the financial aspects of such arrangements.
The proposals by Bobrow and Kirkman for extensive access by the drugs industry to patients' medical records and tissue samples raise key issues about consent, confidentiality, regulation and compensation, which are especially sharp in the UK after the Alder Hey and related scandals.
On consent, it should be noted that if it becomes routine practice for hospital patients to be involved in research, it is difficult to believe they will be properly informed about the research they are giving consent to, that their medical data will be sold to drugs companies, who may even patent genes based on the research. At least in the MRC study, it is envisaged that patients will be recruited on the basis of informed consent. But, as noted by Guilbert, non-geneticists have a poor record in informing patients accurately and obtaining informed consent. These problems are especially severe given that the samples and data may be used in many different types of research project: Bobrow notes that some system of broad consent must be developed and describes attempts to convey detail as 'impossibly bureaucratic'. One wonders whether the Alder Hey families would agree with this view.
Confidentiality issues are not dealt with in any depth in these papers. However, the same issues which have inhibited the development of an NHS electronic records system to date would seem heightened by the prospect of routine access by commercial companies and the special possibilities for discrimination that are raised by genetic information.
Neither do any of the papers mention the need for independent regulation or oversight of such research. In the UK, the only regulation that exists at present is the Research Ethics Committee system, which is under-resourced and not designed for studies on the scale envisaged. Kirkman remarks that the system needs 'streamlining', a typical industry euphemism for de-regulation.
The issues of compensation and patents are extremely complex and cannot be dealt with here. However, it is clear from many examples that genetics diagnostics companies have already established a clear record of attempting to charge high prices for the use of genetic tests based on patented genes, and will only consider compensation for access when products arise directly from the research. There is no reason why the NHS should honour gene patents, since they are based on discoveries, rather than inventions. If the NHS does allow access to patients' samples, compensation should be based on fees for access, rather than arrangements which depend on the uncertain commercial success of products derived from the research. None of the papers discuss the crucial issues about conflicts of interest that may arise for doctors involved in commercial research; for example the pressure they may put on patients to donate samples and whether research results based on NHS patients are rapidly published or kept commercially confidential.
Privatisation of genetic testing services and counselling
Another agenda that emerges from the papers is the privatisation of genetic testing services. Existing services, which concentrate on testing for single-gene genetic disorders are based in regional laboratories in the same hospitals as the regional genetics services. In Debenham's paper, it is suggested that the existing services will not be adequate to deal with the expected increase in genetic testing, and that they should be rationalised to a few large laboratories. This follows the typical model of service privatisation in many sectors in the current phase of globalisation: first run down public services through under-investment, and then contract services out to private sector because public services cannot meet demand.
Debenham envisages that the private sector will provide genetic testing for susceptibility to complex diseases, and pharmacogenetic tests (which determine which drugs will work best for a patient, and which will cause side effects), in some cases directly through pharmacies with no medical involvement at all. The direct marketing of genetic tests by biotechnology companies, is already well-advanced in the USA, with considerable harmful consequences, such as the marketing of unethical (eg. Sex selection) or unvalidated tests that may mislead patients and inadequate counselling.
The key issue is the provision of counselling. A massive expansion of genetic testing will be very expensive if the need for counselling to explain the results of tests is taken seriously. Thus there is a tendency in many circles and reports on this issue (for example in Bobrow's paper - point 7) to suggest that it is only the severe gene disorders that require extensive counselling. Those tests that the private sector is to supply are either to be given with little or no counselling, or, as Kirkman notes the NHS may have to supply the counselling. In the latter case, the NHS will effectively subsidise the private sector, which will cream off the profits, without jeopardising the private market for genetic tests by having to charge high prices for tests which include counselling.
In our view, counselling is an inherent part of genetic testing, which is an inherently public-service activity most suited to be done within the framework of the welfare state. Therefore, genetic testing should be done within the NHS. It should be properly funded: if the government seeks to expand genetic testing, it must not try to do so 'on the cheap' by minimising the provision of counselling. This will require extensive training of GPs and other non-geneticists, which will also be expensive. However, failure to do so will be disastrous for patients.
Kirkman's paper contains one startling suggestion: that everyone will be genetically screened at birth and again at age 18 to determine their genetic susceptibilities. While this is no doubt a long way off, it is very ambitious and opens up major ethical problems.
It is very interesting that prenatal testing and screening, which is currently the major genetics-related activity in the NHS, is not discussed in these papers, although this would be a major opportunity to re-vamp these services. The reason for the omission may be that these services are controversial, as demonstrated by the problems the Department of Health has had in publishing a paper on prenatal genetic testing, produced by the former Advisory Committee on Genetic Testing. This was withdrawn by HGC on the point of publication because of criticism for lack of attention to ethical issues, especially from disabled people, who often feel threatened by these services. The Green Paper should deal with criticisms of prenatal screening services, especially the lack of information that women are given prior to screening, and the biased counselling they receive if an impairment is detected.