Pharmacogenetics
Voluntary consent
9 There is a serious question regarding whether voluntary consent to pharmacogenetic testing can truly be obtained in the context of clinical trials or in clinical practice. If researchers require genotyping as a condition of enrolment in a study, patients might not feel able to refuse, especially if they think it is possible that they may get some personal benefit. Indeed, in some cases, taking part in a clinical trial may be the only way for a patient to have a chance of obtaining a particular medicine. While this perceived lack of choice on the part of patients may arise to a similar extent in any trial of a new medicine, it may be of particular concern when that research involves taking samples of DNA because of public perceptions and concerns (paragraph 3.30).
Privacy and confidentiality
10 The implications for patients of DNA samples being used in research will differ depending on how easily their samples can be traced back to them, and whether the research is likely to give rise to information that may be of personal clinical relevance. We take the view that, in the case of pharmacogenetic research, it is generally possible to obtain genetic and clinical information about a patient during a clinical trial and then to anonymise the samples so that the code linking the sample with the patient is destroyed. In most cases, new samples can be taken from patients suffering adverse reactions and from controls for the purposes of postmarketing surveillance without compromising the quality of the research. In some cases, for example trials that last for a very long period of time, anonymisation would not be able to take place without compromising the goals of the research. There may also be auditing requirements imposed by regulators which entail that samples cannot be anonymised, even for a number of years following the completion of a clinical trial. We consider that to protect the privacy of participants in research, the greatest degree of anonymity should be imposed on samples, compatible with fulfilling the objectives of the research. Researchers should explain to prospective participants the implications of the manner in which samples will be stored for that participant (paragraph 3.36).
11 It can also be argued that, whether samples are anonymised or not, there should be limits to the use to which they can be put, since there may be some types of research to which the participant does not wish to contribute. Thus, a distinction is often drawn between ‘broad’ and ‘narrow’ consent. The latter refers to instances where a sample is only to be used for a restricted range of purposes, perhaps only for a single research project, or research in relation to one particular medicine or condition. Broad consent entails that patients agree that their sample may be used for a variety of future studies which it may not be possible to specify in any detail at the time of consent. Usually, but not always, these future studies will be within the same broad areas of research as the initial project. For example, some researchers may wish to use samples taken for pharmacogenetic research in general studies examining the genetic basis of disease. In practice, there is no dividing line between broad and narrow consent. The breadth of the research proposed could range from any biomedical research to a particular study.
12 Allowing broad consent may be of significant benefit to researchers and to society’s interest in the acquisition of knowledge about health and disease. We consider that it is permissible to request broad consent to the use of samples which are anonymous or anonymised. Where samples collected for a particular study are coded or identified, broad consent to future research may also be permissible, but should be sought separately from consent to the initial study. This separate consent may be obtained when the samples are originally taken, or at a later date. In general, the further removed the future research is from the original study, the more likely it is that separate broad consent should be obtained. An indication of the type or nature of the research likely to be carried out and its implications for the individual should be given where possible (paragraph 3.39).
13 A further question is whether data protection laws are compatible with the anonymisation of pharmacogenetic samples, in particular regarding obligations to disclose information to family members. In the case of pharmacogenetic information, the likelihood that test results would be of immediate relevance to a family member is low compared to other genetic tests such as those for monogenic disorders. We received conflicting views as to whether the Data Protection Act (DPA) imposed an obligation on health professionals to disclose information to relatives. We recommend that even if secondary legislation is not required, clarification should be provided by the Information Commissioner to ensure that the DPA is not interpreted so as to require health information to be passed to relatives (paragraph 3.43).
14 In some cases, researchers provide individual feedback to patients. In others, researchers elect to offer individual test results to patients who request the information. There is no clear guidance on this matter in the UK. We support the view of the Human Genetics Commission that the feedback of the overall results of research should be promoted (paragraph 3.44).2 Regarding individual results, while we are sympathetic to the view that patients should have the opportunity to receive useful and validated information about their medical treatment, we consider that only on rare occasions will such information be obtained as part of research in pharmacogenetics. In the atypical cases in which a clinical trial are likely to produce validated and clinically useful data regarding individual participants, we recommend that all participants should be offered the opportunity to receive individual feedback of such data as part of the process of obtaining consent. As far as possible, the nature and implications of the information to be obtained should be explained to participants. We recognise that decisions about whether data that may be obtained in the course of research are likely to be clinically useful, and assessments of when findings can be said to be sufficiently well validated, will be complex. We therefore recommend that researchers should explain their decisions regarding the provision of individual feedback to the relevant research ethics committee (paragraph 3.49).
Footnotes2 Human Genetics Commission (2002) Inside Information: Balancing interests in the use of personal genetic data (London: Department of Health), para. 5.51.