Pharmacogenetics – the study of how genetic variation affects our response to medicines - could promise safe and more effective treatments in the future according to the Nuffield Council on Bioethics. But in a Report, Pharmacogenetics: ethical issues, published today (Tuesday 23 September), the Nuffield Council argues that it will be necessary to address legitimate concerns if the potential benefits of this important medical technology are to be realised. In the future, a GP could decide which medicine will be most effective for a patient, or will have fewer side-effects, on the basis of a genetic test. Prescriptions could be tailored to an individuals’ genetic profile. “It is too early to predict whether ‘personalised medicines’ will become a reality,“ according to Professor Peter Lipton, Chairman of the Working Party and Head of the Department of History and Philosophy of Science at the University of Cambridge. “Claims of ‘the right medicine, for the right patient, at the right dose’ may be overstated. But it is important to encourage discussion of ethical and policy issues raised by the introduction of pharmacogenetics.” There is currently little or no pharmacogenetics testing in practice. However, the greatest impact of genetics on healthcare in the short term is likely to come from pharmacogenetics, according to the Genetics White Paper published by the Government in June. The Nuffield Council makes a number of recommendations which aim to ensure that the delivery of pharmacogenetic testing is made as straightforward as possible. Both doctors and patients will need reliable and easily accessible information from independent sources. Health professionals will need resources and training to cope with additional challenges. And GPs will need guidance to answer new questions, such as whether patients should be entitled to a prescription for a medicine, even if they do not wish to take an associated test. Some patients may worry about having a genetic test. “We recognise that many people feel genetic information is special. But we believe that what matters is the information that a test reveals, not whether the test is genetic,” says Professor Lipton. The fact that information is genetic does not necessarily raise different ethical issues from other types of medical information, such as blood tests or cholesterol tests. The Report discusses implications for the development of medicines, the use and storage of genetic information, and public policy. What might happen if patients are divided into groups on the basis of genetic information? These sub-groups might be so small that developing specific medicines to treat them could be prohibitively expensive. “We recommend that incentives might be necessary to encourage pharmaceutical companies to develop medicines that would provide real benefit to only a small number of patients,” commented Professor Lipton. Another concern is that patients may be sub-divided according to racial or ethnic groupings. The Working Party concluded that since there is considerable genetic variation within racial and ethnic groups, it is highly unlikely that membership of a particular racial group could be used as a substitute for a pharmacogenetic test. It also recommends that pharmacogenetic tests should be validated in the populations in which they are to be used. “It is important to address concerns now to ensure that we can get the greatest benefit from pharmacogenetics. There must be the right combination of constraints and incentives to protect and promote the interests of patients and society as this technology is more widely introduced,” concludes Professor Lipton.

Notes for editors

1. Copies of the Report, Pharmacogenetics: ethical issues, can be downloaded from the Council's website. For a printed copy, please e-mail, or telephone 020 7681 9619 2. The Nuffield Council on Bioethics is an independent body which examines the ethical issues raised by developments in medicine and biology. Established in 1991, it is funded by The Nuffield Foundation, the Medical Research Council and The Wellcome Trust. 3. There is currently little or no pharmacogenetic testing in practice, partly because there are no accurate or easy-to-use tests. An exception to this is testing for herceptin, which although not a genetic test, is based on pharmacogenetic principles. A genetic variation which leads to overexpression of a protein called HER2 is associated with a particularly aggressive form of breast cancer. Patients with breast cancer are given a test to find out if there are high levels of HER2. If there are, the medicine Herceptin (trastuzumab) is given to treat this specific type of cancer. 4. A new DNA chip launched this summer could signal the beginning of more routine pharmacogenetic testing. The chip tests variations in a gene which codes for a liver enzyme, CYP2D6. It plays a major role in the metabolism of nearly one quarter of medicines, including painkillers such as codeine, anti-depressants and beta-blockers used to treat heart disease. People with reduced levels of CYP2D6 are unable to process some medicines properly, so the medicine may either be ineffective or cause serious side-effects. Convenient tests such as these could make pharmacogenetic testing much more feasible 5. Members of the Working Party Professor Peter Lipton (Chairman) Head of Department of History and Philosophy of Science, University of Cambridge Professor Haleh Afshar Department of Politics, University of York Professor Martin Bobrow CBE Head of Department of Medical Genetics, Cambridge Institute for Medical Research Deputy Chairman of the Nuffield Council on Bioethics until January 2003 Professor John Caldwell Dean, Faculty of Medicine, University of Liverpool Professor Klaus Lindpaintner Vice President, Research Director, Roche Genetics, Switzerland Professor Sir Michael Rawlins Professor of Clinical Pharmacology at the University of Newcastle Chairman, National Institute for Clinical Excellence Professor Nikolas Rose Director, BIOS: Centre for the Study of Bioscience, Biomedicine, Biotechnology and Society. London School of Economics and Political Science. Dr Nigel Starey Director, Centre for Primary Care, University of Derby Professor Albert Weale Professor of Government, University of Essex Member of the Nuffield Council on Bioethics 6. Terms of Reference 1. To explore what pharmacogenetics offers now and is likely to offer in the near future; In particular to examine the effect of pharmacogenetics on: a) the design of medicines, the promotion of efficacy and safety in the administration of medicines to individuals; b) the conduct of trials in the context of pharmaceutical research & development; c) clinical practice. 2. To consider ethical issues specifically raised by pharmacogenetics; In particular to examine the areas of: a) consent, privacy and confidentiality; b) the management of information about response likelihood; c) the implications of differentiating individuals into groups based on response likelihood. 3. To consider the implications for the provision of healthcare. 7. According to the Genetics White Paper, 'Our Inheritance, Our Future - Realising the potential of genetics in the NHS', published by the Department of Health in June 2003, the greatest impact of genetics on healthcare in the short term is likely to come from pharmacogenetics. The White Paper announced funding of £4 million for pharmacogenetics research in existing medicines and, in addition, funding to establish a new university Chair and small department in pharmacogenetics. The Report by the Human Genetics Commission, ‘Genes direct: Ensuring the effective oversight of genetic tests supplied directly to the public’ also considered the implications of the introduction of pharmacogenetic testing.