Feature

The future has arrived

Advances in genetic science have not been accompanied by parallel advances in planning the new patterns of health care delivery genetics will demand. Joanne Lenaghan says we must start immediately

As the Health Bill makes its way through parliament, journals, conferences and meetings are dominated by discussions on how to get primary care groups (PCGs) up and running and waiting lists down and falling.

Yet those busy implementing organisational reforms are in danger of ignoring important technological developments on the horizon which will have profound implications for health services in the next millennium. In 20 years time, when commentators start to look at the factors that shaped the health services of the 21st century, they will not be writing about who sat on which PCG board but chronicling the advent and impact of the genetic revolution.

By 2000, it is anticipated that all areas of medicine will be using genetic advances in their practice. Developments in genetics will enable us to predict the likelihood of future diseases in healthy people, sometimes (though not always) offering opportunities for disease prevention. This will require a paradigm shift in the way in which we think about and measure health care services in the future.

Yet although these fundamental changes are imminent, they have not been accompanied by a wide or informed debate about their impact on the NHS. The Institute for Public Policy Research has attempted to bridge this important policy gap in a recent publication, Brave New NHS.

Genetic futures

It is useful to think of the effect of genetics on disease in four stages. Increased understanding of the genetic components of diseases may lead to: new ways of classifying individual diseases; the possibility of earlier detection; opportunities for prevention, and better targeted and more effective treatment.

But these points do not necessarily go hand in hand, as detecting the disease may prove to be easier than preventing or treating it. Many clinicians and commentators disagree about the likely pace and nature of developments in genetic science, and the uses to which the emerging knowledge can and should be put.

However, it is generally anticipated that advances in knowledge about the human genome will not only affect the rare, single gene disorders, such as cystic fibrosis, sickle cell and Huntingdon’s disease (which form the basis of current service provision), but provide new opportunities for diagnosis, treatment and management of more common multifactorial diseases, including diabetes, cancer, heart disease, arthritis, some mental disorders, asthma and Alzheimer’s disease.

These anticipated developments will challenge traditional boundaries and divisions between professionals and institutions, and increase the pressure for new structures to deliver genetic services.

Which genetic services should the NHS provide?

New techniques have made it possible to identify and isolate specific genes involved in important human disorders. As the technology develops, questions for the NHS include how, when and why which kind of genetic tests or screening programmes should be introduced into the health service, who should make these decisions, and according to what criteria.

For example, what level and kind of accuracy should the NHS require before agreeing to fund genetic tests and screening programmes? Many genetic tests will not identify the presence of disease, but merely indicate the probability of a person developing a particular disease in future. Is it appropriate to provide a test for a disease if, as in the case of Huntingdon’s disease, there is no prospect of a cure?

How should the NHS respond to public demand for tests of limited benefit? Clinicians are already reporting an increased demand for tests for the breast cancer gene BRCA1/2, even though this gene is responsible for only 5 per cent of all breast cancers. Should tests be provided on a population basis or targeted at those already considered at high risk?

These are complex issues, considered in detail in the report. It argues that existing mechanisms or paradigms for making these decisions are not adequate for assessing the new genetics. Criteria developed for testing and screening programmes which are used to identify the early stages of a disease may not be appropriate for a technique which indicates only the probability of a healthy person becoming ill in the future. These issues will be of increasing importance to the NHS, particularly in the light of the government’s proposal to set up a National Institute for Clinical Excellence, to develop and disseminate clinical guidelines on clinical and cost effectiveness.

Issues for providers

The current model of genetic services based at the regional level has developed around rare and single gene disorders. As genetics expands to include multifactorial and common diseases, the scope for primary care involvement will increase. This raises important issues, particularly as Primary Care Groups are expected to be at the forefront of ‘the new NHS’.

Do GPs have the time to deliver genetic services? GPs often complain that they are already overloaded with information and bureaucracy, and may therefore be reluctant or unable to take on the extra workload that developments in genetics will generate. GPs will need time to explain to patients the many choices which genetic knowledge can present.

Pilot screening programmes for early onset single gene disorders such as cystic fibrosis have indicated that counselling and obtaining a mouthwash sample add about 10 minutes to a first antenatal appointment, or six hours a year for the average 36 pregnancies per GP.

Genetics represents a move from the diagnose-and-cure model of health care to a predict-and-prevent model. Genetics also requires the doctor not to tell a patient what he or she should do to get better but to present options and probabilities so that the patient (or co-producer of health) can make an informed choice.

Do GPs wish to be primarily concerned with giving lifestyle advice? There is evidence that many GPs tend to find interpreting probabilistic information difficult, have a varying tolerance of uncertainty and lack confidence in imparting uncertain information.

The current lack of knowledge and understanding about genetics at the primary care level must be recognised, and the implications for recruitment, education and training addressed.

Issues for purchasers

In order to consider how purchasers might appropriately buy genetic services, a number of key questions must first be addressed. How should genetics be measured as a service? How should the health service define a successful outcome? Who should be involved in these decisions? At what level should genetic services be purchased? Central to all these issues is the key question which will confront purchasers: what is the aim of genetics?

Policymakers and practitioners must realise that whereas reducing the prevalence of a disease like TB could be considered an appropriate aim of public health policy, society might object to the same aims being applied to genetic screening services, as it could increase the stigma and discrimination experienced by adults and children affected by disabilities.

An open public and professional debate is needed, to avoid inappropriate or implicit criteria developing in different areas.

The need for a coherent strategy

If the potential of genetics is to be realised, health professionals, the public and policymakers must begin to understand and debate the opportunities and challenges which lie ahead.

Without a strategy, genetic services could be developed in an ad hoc manner, subject to patients’ demands, fuelled by industrial and media interests, dependent on the attitudes and knowledge of individual doctors, and obstructed by cash-strapped and short-sighted health authorities.

The combination of ongoing changes in both the science of genetics and the infrastructure which will deliver genetics as a service, will require policymakers alert to the challenges ahead and clear about their aims.

Many of the changes outlined in the white paper are taking effect this year, and the government is clearly committed to learning from what works and discarding what does not. We therefore have a unique opportunity to consider the impact of recent and future reforms on the provision of genetic services, and to develop a framework for the effective and equitable provision of genetic services in the next century.

An open, explicit and inclusive debate on the future development on genetics is essential, so that we can all participate in shaping the Brave New NHS.