Feature

Testing times ahead

Rapid developments in genetics herald a ‘revolution’ in medicine, and new dilemmas for the NHS. As the government drafts its green paper on genetics, David King examines the key issues it must address

Today genetics is a central strand in medical research, and the Human Genome Project is said to promise a medical revolution which will help us all live longer and healthier lives. Governments and industry have invested heavily in genetic research, believing it will be a key driver of economic growth in the future. But what are the real implications of genetics for public health and for the NHS?

Genetics has already produced medical benefits, but it is very uncertain whether it can live up to the hype which currently surrounds it. Research on working out the molecular basis of disease and on pharmacogenetics is still at a very early stage, and new drugs arising from the Human Genome Project are at least ten years away.

A more fundamental problem is the complexity of disease. Although there are relatively rare genetic diseases that are due to mutations in a single gene, in most cases our susceptibility to disease is due to a complex mix of multiple genes interacting with the environment. Unfortunately, both scientists and the media often fall into the ‘genetic determinist’ trap of simplistically over-emphasising only genetic causes.

It is very possible that the complexity of genetics and environmental factors will frustrate attempts at accurate and reliable prediction of whether someone will suffer from a particular disease. This uncertainty may also mean that scenarios of genetic discrimination and eugenics are exaggerated, since they may not be technically feasible.

Not only is genetic determinism bad science, but it may result in a downgrading of research into social and environmental causes of disease which, in most cases, play a larger role than genes. Traditional public health approaches aim to improve environmental and social conditions for everyone, but the superficially attractive approach of focusing on people with high genetic susceptibility is fraught with problems. The individualisation of responsibility for risk may reinforce trends towards a less socialised healthcare system. People with high susceptibility may be stigmatised, and, for example, be excluded from certain work environments, on the pretext that this is in their interests.

A better approach, which would benefit everyone, would be to set the safety levels for environmental chemicals at a level that even the most susceptible are safe, as is the rule for pesticide residues in food. Focusing on the few with high susceptibility may also give the false impression that the many need not be concerned about their lifestyle and diet – so that society need not worry, for example, about the income differences that are a major cause of ill health. An example of such a ‘technical fix’ strategy is the possibility that people believed to have high genetic susceptibility are prescribed preventive drugs for their whole life. Though it might benefit them, this makes healthy people, many of whom would never have become ill, dependent on drugs – an approach which seems primarily designed to make money for drug companies.

Strategies for the NHS

At present, genetics is a specialist service in the NHS, organised into 23 regional genetics centres, whose work focuses on the rare ‘single-gene’ disorders, such as cystic fibrosis. The centres employ genetic counsellors, who give counselling on reproductive issues, and late-onset disorders such as Huntington’s disease. GPs, by contrast, are not well informed about genetics.

In addition to the now-routine ultrasound scanning programmes, most pregnant women are screened for Down’s Syndrome, and certain ethnic minority communities are screened for thalassemia and sickle cell disease. The Department of Health has been discussing the possibility of a national antenatal genetic screening programme for cystic fibrosis for a number of years.

Over the last few years, the avalanche of new genetic findings has raised expectations for clinical applications, and the Department of Health has gradually been preparing strategies for the NHS. In April 2001 health secretary Alan Milburn announced an extra £30m to strengthen the existing structures. There is still little evidence on the likely cost impact of genetics. Some applications – for example, new drugs – may be expensive while others – like pharmacogenetics – could potentially save money. Later this year the Department will publish a green paper on genetics and the NHS.

Public health genetics and eugenics

The potential expansion of genetic screening raises important concerns. Many disabled people and others see these services as part of an ongoing policy of eugenics. Although genetic counselling is officially non-directive, there is considerable evidence of persistent eugenic attitudes and practices among doctors. Even if this were not the case, the funding of screening programmes is clearly designed to reduce the birth of disabled people, and is often justified in terms of reducing the financial burden of disabled people.

The green paper is a vital opportunity to improve existing programmes by the provision of adequate funding, to allow counselling for real informed choice about participation. Genetic screening programmes must not be introduced or modified without wide public debate. Public education (including education of healthcare workers) about genetics should have an explicit emphasis on the rights and value of disabled people.

Counselling and confidentiality

It is expected that the first application of genetics with a major impact will be the expansion of genetic testing, especially pharmacogenetic tests. Even with new funding, it is clear that regional genetics centres will not be able to cope with a radical expansion of testing, and so many expect testing to take place in primary care settings. This is particularly likely with pharmacogenetic tests, which will be relevant to many of the drugs routinely prescribed by GPs.

This immediately raises two problems. First, it is unclear where the resources for the enormous job of training GPs and practice nurses in genetics will come from. Second, even if there were adequate trained personnel, counselling – which is time-consuming and therefore expensive – remains an essential part of the genetic testing process. It is vital that the government does not try to introduce genetic testing ‘on the cheap’. Healthcare staff must be properly trained in non-directive genetic counselling before genetic tests are introduced.

The expansion of genetic testing will inevitably generate a large amount of personal genetic information held in medical records. For many good reasons, including the possibility of genetic discrimination by insurers, most people see such data as more sensitive than other medical data. But in its recent regulations under Section 60 of the Health and Social Care Act, the government has legalised access to patient data for a very broad range of purposes. The Human Genetics Commission, which advises the government, recently recommended that theft of genetic data become a new offence. While this is a start, it falls far short of the comprehensive genetic privacy legislation which many feel is necessary.

Industry and NHS-based research

There is great interest among geneticists in having access to thousands of samples, in order to examine genetic variation, medical history and lifestyle information. By comparing the DNA of patients with, say, diabetes it may be possible to identify which genes lead to predispositions to the disease. The Medical Research Council and the Wellcome Trust have announced plans for a UK National Biobank, which will collect DNA samples and medical data from 500,000 middle-aged people. According to the MRC, access to the Biobank by pharmaceutical and biotechnology companies will be crucial to its success. More generally, it is being suggested that genetics will demand the expansion of public-private partnerships in medicine.

Last year, leaked papers from a committee advising the government on its green paper confirmed suspicions that the Biobank project, large as it is, is just a pilot for a future scheme involving the entire electronic medical records system of the NHS. A similar scheme in Iceland has proved extremely controversial because of concerns about consent, confidentiality and commercial involvement.

One major concern is that if the involvement of hospital patients in such research becomes routine practice, it is highly likely that they will be asked for consent to use their genetic information without being adequately informed about the uses to which it may be put, and that their medical data will be sold to drugs companies – who may even patent genes as a result.

The issues of compensation and patents are complex. However, genetic diagnostics companies have already established a clear record of attempting to charge high prices for the use of tests based on patented genes. There is no reason why the NHS should honour gene patents, since they are based on discoveries rather than inventions.

Although the impact of genetics is still unclear, if the more optimistic predictions of scientists are realised the impact on healthcare, and on the structure of the NHS, will be profound. The geneticisation of medicine is likely to accelerate existing trends towards capital-intensive high-tech applications, increasing the influence of the medical-industrial complex on health care. Whether this proves to be in the interests of patients is far less certain.

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