Genning up on genetics

Recent years have witnessed unprecedented advances in our understanding of the molecular mechanisms of disease and of genetic influences - not only in the case of single gene disorders but also in relation to such common diseases as diabetes, cancer, Alzheimer's disease and schizophrenia. New technologies for locating and identifying human genes provide opportunities for improved accuracy in determining prognosis and ensuring the right drug goes to the right patient.

Understanding of molecular genetics is at a stage where it should take its place, alongside environmental factors, as a key determinant of disease and ill-health and a factor to be considered in establishing population-based policies and public health action.

The time is ripe for a thorough appraisal of the policy implications of genetic medicine for the NHS and health policy generally. Although its importance has yet to be fully grasped and felt in the day-to-day activities of medical practice, this is no excuse for the policy gap that exists. The technologies may be 10 years or so away, but it is critical that practitioners, managers, policy makers and the public should have some knowledge and understanding of what lies in store.

One might add the media to this list of stakeholders. A proper understanding on its part of the complex issues involved is critical if public debate is to be informed rather than sensationalised.

The issues are not all cost-related, although cost must inevitably be an important concern. Arguably, more effective targeting of drugs on the right patients could save resources, particularly if treatment avoids lengthy inpatient stays or alleviates the more severe symptoms in chronic diseases. But the issues go wider and deeper and have ethical, legal, social and public health implications.

There are those who fear that genetics and molecular medicine will take over the preoccupation with acute care and 'high tech' medicine already present in the NHS, thereby reinforcing the bias towards acute healthcare in resource allocation and investment decisions. This, it is thought, will thwart attempts to shift the focus in health policy towards public health at a time when broader conceptions of positive health are on the policy agenda.

There is also concern that the application of genetics will result in a raft of new inequalities, thereby widening the health gap. Because of the costs involved, it is claimed that those who can afford genetic therapies will pay for them by one means or another, while those less fortunate will be deprived of their benefits.

There are risks in the rise of genomics, especially when the interests of pharmaceutical companies are directly involved. But these very real public policy dilemmas are precisely why it is necessary to raise the level of public debate - preferably before the new developments are upon us, by which time it may be too late to put in place a sensible policy response. It should not be left to pharmaceutical companies to promote such a debate.

The all too familiar danger is that rapid advances in the discovery of new genetic treatments and the means of applying them will run ahead of the NHS's or society's understanding of them and of their value and limitations. A measured consideration of their implications for public health and society more generally is overdue.

Ethical and legal considerations have not been fully explored, and the subject has hardly been considered by those who advise on, or formulate, national health policy.

There appears to be no connection between such policy developments, ill considered though they are, and the organisational changes being implemented in the NHS. These changes emphasise the key role GPs and other primary care practitioners will exert in future on local healthcare priorities.

But are such practitioners up to speed with the latest developments in genetics?

If not, is such a major lacuna acceptable when it is anticipated that the new genetics will play a key role in the diagnosis and treatment of all major diseases and have a major impact on both general practice and primary care?

Professionals working in this setting require education in the science, application and policy implications of genetics.

Whether one approves of it or not, human genetics is here to stay and has it major implications for health policy. Even a sober analysis cannot escape the conclusion that the revolution under way in genetics will have a considerable impact, not only on the health of society but on its very shape and composition.

At a minimum, the NHS needs to keep abreast of the rapid developments occurring in the field of human genetics and to consider their ethical, legal, social and public health implications. It also needs to make the link between academic research, clinical practice and policy development.

Mechanisms to promote effective dialogue with the public, primary care professionals and other stakeholders are necessary. Finally, developing methods and criteria for assessing the costs and benefits of medical genetics and genetic screening programmes should be given priority in order to determine whether or not investment in them is justified.

If the National Institute for Clinical Excellence succeeds in giving a lead in such matters, then its establishment will have been amply justified. It doesn't look as if the lead will come from anywhere else.