Pharmacogenetics
Clinical judgement and patient choice
Information, training and education
29 As pharmacogenetic tests and medicines become more widely used, there will be a need to educate health professionals including general practitioners (GPs) and pharmacists, as new findings emerge and new tests are developed. Reliable and easily accessible medical information is important for both health professionals and patients. While the internet has the positive effect of enabling patients to have access to more information, it also increases the risk of distribution of mis-information. The introduction of a new approach to medicine such as pharmacogenetics makes the requirement for reliable information particularly pressing. The recent White Paper on Genetics proposes various initiatives to ‘support the integration of genetics knowledge and healthcare applications across the NHS’, including an NHS Genetics Education and Development Centre to provide training for health professionals including GPs, the development of the National Electronic Library for Health to include current information about genetics to aid in clinical decision-making, and efforts to ensure that NHS Direct is kept abreast of developments in genetics to enable patients to access this information.6 We recommend that initiatives to provide independent and impartial information about pharmacogenetic tests and medicines to patients and health professionals, including GPs and pharmacists, should be encouraged (paragraph 5.7).
30 It is not, however, sufficient to make accurate information readily available: the patient needs to be able to understand that information and its significance. The probabilistic nature of the information provided by pharmacogenetic tests raises issues regarding the ability of patients and physicians to engage in an informed discussion about treatment. Much research has been carried out into ways of communicating risk in the medical setting. We recommend that research is conducted into methods of communicating information about pharmacogenetics to patients, and that health professionals are provided with appropriate training (paragraph 5.8). Consent in clinical practice
31 We have said that the important feature of a medical test is the content of the information it provides, not whether that information is genetic in nature (paragraphs 1.8 – 1.11). It is important not to fall into the trap of genetic exceptionalism and to demand higher standards of consent for pharmacogenetic tests compared to non-genetic tests that might have similar risks associated with them, for example, tests for high blood pressure, which not only direct treatment, but also reveal information about the likelihood of future ill health. However, we recognise that one important feature of genetic data is that they may reveal information that is unrelated to the illness in question, or indeed to any disease, and that this additional information may not be known about at the time the genetic sample is taken. This makes obtaining informed consent to the test difficult. The ethically significant requirement of consent is not that it be complete, but that it be genuine, since achieving fully informed consent is not possible (paragraph 3.29). No consent form can inform a patient about eventualities that are not known about at the time. However, consent forms may be required in some cases. We give two examples: (i) if there is a significant chance that the sample or test results will be used for purposes that are substantially different from the original goal of aiding prescription, or will reveal information about the patient unrelated to the medicines in question; (ii) if the results of the test may have a particularly serious impact on the health or lifestyle of the patient. It should be noted that both examples could also arise when nongenetic tests are proposed (paragraph 5.16).
32 We recommend that in assessing whether written consent forms are required for pharmacogenetic tests undertaken in clinical practice, each test should be judged according to the nature of the information it provides. If information about unrelated medicines or diseases is likely to be obtained, or if the results of the test will have a significant impact on the health or lifestyle of the patient, written consent may be appropriate. We take the view that, in most cases, written forms will not be required. However, written information for patients should be supplied, particularly if tests will reveal complex and probabilistic information. In developing such information resources, relevant organisations should consider whether information about non-genetic tests which are similarly complex should also be developed (paragraph 5.17).
Footnotes6 Department of Health (2003) Genetics White Paper. Our inheritance, our future – realising the potential of genetics in the NHS (Norwich: The Stationery Office, CM 5791), para. 4.35.