Genetics and the general practitioner

White paper takes the first steps down a long road

Our Inheritance, Our Future, the white paper on genetics in the NHS, was launched last week after a painfully long gestation.1 Two weeks into his new job, John Reid, the secretary of state for health, acted as student midwife for the delivery of the white paper. He announced £50m ($83m;€72m) of new money for the development of genetics knowledge and skills and provision of genetics services within the NHS.

Slightly more than two years ago Alan Milburn, who was then secretary of state, started the NHS genetics revolution.2 He invested £30m in genetics knowledge parks, national genetics reference laboratories, and specialised genetics services. The time has now come to begin spreading the genetics gospel into the wider community of professionals and patients. The white paper wants to incorporate genetics advances into everyday clinical practice.

Over the next three years pilots will be set up to kickstart initiatives in primary care genetics. Ten general practitioners with a special interest in genetics will be funded, although exactly how they will work is not clear. A partnership model, in which primary care physicians and geneticists learn from each other, as envisaged by Burke and Emery,3 may prove to be the only viable way forward. In other specialties, general practitioners with a special interest are intended to increase the capacity of primary care to undertake out-patient appointments, reduce patients' waiting times, provide a more convenient service, and help to free up consultants' time in secondary care.

Over recent years there has been much debate about what role primary care physicians will play in genetics, but the field remains wide open.4^–6 Initially they are likely to be involved in educational activities with their peers. Initiatives such as the National Coalition for Health Professional Education in the United States and the work of the Public Health Genetics Unit in the United Kingdom are leading the way in defining what primary care professionals need to know.7

Primary care trusts will be invited to submit bids for imaginative ideas such as siting genetic nurse counsellors in primary care. A model of assessing familial cancer risk, developed and funded jointly with Macmillan Cancer Relief, will be tested in six cancer network areas. It will aim to provide local, up to date risk assessment and information for people who are worried about their family histories of cancer. The ideas are good, but 10 general practitioners with a special interest are less than 0.03% of the United Kingdom's general practice workforce.

The mammoth task of getting health professionals up to speed is not forgotten in the white paper. Everyone knows that genetics will not be successfully integrated into the NHS without systematic attention to education and training. No one knows how much this will cost or how long it will take, but it will be much more than £50m over three years. An NHS genetics education and development centre, a genetics portal on the National Electronic Library for Health, and training for the people who will be commissioning genetics services are all part of the white paper's education and training package, but these initiatives constitute only a fraction of what is going to be needed. The government is acutely aware of the importance of keeping the public on board. Without the trust and confidence of the public, introducing genetics into mainstream NHS activities could be a high risk enterprise. Ministerial fingers were burned by the fiasco surrounding the introduction of genetically modified foods and crops, and the Department of Health is determined that this must not happen with the introduction of genetic medicine.

Striking the balance between unrealistic expectations and unfounded fears will be vital. Genetics is not going to hit the NHS like a tidal wave. Rather it will be like rising damp that gradually permeates almost every aspect of health care. To sustain the public's confidence, the white paper proposes a strengthening of regulations. A new law will make it a criminal offence to test a person's DNA without their consent. The police and courts will have special privileges in this area. The government will think about the best way of preventing unfair genetic discrimination, especially in areas such as insurance and employment, but no specific legislation is proposed.

One controversial suggestion is that babies could be screened at birth to produce “a comprehensive map of their key genetic markers, or even their entire genome.” Leaving aside the thorny issue of how a newborn can consent to genetic testing, one wonders why a DNA sample taken at birth is any more useful than one taken later in life. The Human Genetics Commission (whose work provided many of the ideas in the white paper)8 and the National Screening Committee have been asked to consider this proposal and report by the end of 2004.

What will the white paper mean for ordinary members of the British public? For individuals and families affected by conditions caused by chromosomal abnormalities and mutations in single genes, there will be more genetic counsellors, more laboratory staff and equipment, and more and faster genetic tests. Within three years, NHS laboratories should be able to provide a 21st century service: prenatal tests will be available in days, and complex searches for mutations will take eight weeks (currently they sometimes take many months).

What about the 95% of people who do not have diseases caused by single genes? The white paper flirts with the prospect of tests that will predict susceptibility to common diseases, such as cancer and heart disease, but there are no promises of when, if ever, these will become a reality. Pharmacogenetics—the ability to use genetic characteristics to choose appropriate drugs for patients—is said to be coming soon. The white paper does not mention how general practitioners will fit a genetic test into a consultation lasting seven minutes. A few case histories of patients who might benefit from the new genetics are scattered through the white paper, but for those of us who do not metabolise warfarin unusually slowly and do not have maturity onset diabetes of the young, the practical benefits seem a long way down the road.