Bioethics should update its conception of the geneThe 25th of April marks the 50th anniversary of the publication in Nature of the letter by James Watson and Francis Crick announcing their solution to the structure of deoxyribose nucleic acid .1 By that time, much was known about the role of chromosomes in inheritance, the contribution of DNA to chromosome structure, and the chemistry of DNA.2 The gene concept itself was also well established by then; the principal scientific problem became to (...) specify what genes were in molecular terms and how they functioned in the cell during ordinary function and cell division.The importance of the solution of the structure of DNA was twofold. First, it gave insight into finding a mechanism for DNA replication, as the authors recognised in this famous sentence:"It has not escaped our notice that the specific pairing we have postulated immediately suggests a copying mechanism for the genetic material.3 … ". (shrink)

In light of the human genome project, establishing the genetic aetiology of complex human diseases has become a research priority within Western medicine. However, in addition to the identification of disease genes, numerous research projects are also being undertaken to identify genes contributing to the development of human behavioural characteristics, such as cognitive ability and criminal tendency. The permissibility of this research is obviously controversial: will society benefit from this research, or will it adversely affect our conceptions of ourselves and (...) each other? When assessing the permissibility of this research, it is important to consider the nature and deterministic significance of behavioural genetic information. Whilst todate there has been much discussion and debate about the properties of genetic information per se and genetic determinism, this has not been applied to behavioural genetic research and its ethical implications. Therefore, this paper elucidates how behavioural genetic information can be distinguished from other types of genetic and non-genetic information and also synthesises the determinative significance of genetic factors for the development of human behavioural traits. Undertaking this analysis enables the ethical issues raised by this research to be debated in an appropriate context and indicates that separate policy considerations are warranted. (shrink)

It is argued here that bioethicists might inadvertently be promoting genetic determinism: the idea that genes alone determine human traits and behaviours. Discussions about genetic testing are used to exemplify how they might be doing so. Quite often bioethicists use clinical cases to support particular moral obligations or rights as if these cases were representative of the kind of information we can acquire about human diseases through genetic testing, when they are not. On other occasions, the clinical cases are presented (...) in simplistic ways that portray genetic testing as yielding information more accurate than it actually is. It is concluded that, because of the problematic implications that the ideology of genetic determinism might have for individuals’ wellbeing and for our public policies, bioethicists should be careful to present these issues in ways that do not promote questionable ideas about the causal role of genes in human diseases and behaviours. (shrink)

Individual autonomy is a concept highly appreciated in modern Western societies. Its significance is reflected by the central importance and broad use of the model of informed consent in all fields of medicine. In predictive genetic testing, individual autonomy gains particular importance, for what is in focus here is not so much a concrete medical treatment but rather options for taking preventive measures and the influence that the test results have on long-term lifestyle and preferences. Based on an analysis of (...) autonomy-related issues in predictive genetic diagnosis and genetic screening programmes, this contribution stresses the central relevance of a broad notion of autonomy for the discussion of ethical issues raised in connection with predictive genetic testing and genetic screening programmes. Only against the background of such a broad notion of autonomy, which stresses not only free and informed decision-making but also the relevance of long-term prospects for leading a self-determined life in familial and social contexts, can the manifold autonomy-related issues linked to predictive genetic testing be given adequate consideration. (shrink)

There is a flood of papers being published on new ways to diagnose Alzheimer disease before it is symptomatic, involving a combination of invasive tests , and pen and paper tests. This changes the landscape with respect to genetic tests for risk of AD, making rational suicide a much more feasible option. Before the availability of these presymptomatic tests, even someone with a high risk of developing AD could not know if and when the disease was approaching. One could lose (...) years of good life by committing suicide too soon, or risk waiting until it was too late and dementia had already sapped one of the ability to form and carry out a plan. One can now put together what one knows about one's risk, with continuing surveillance via these clinical tests, and have a good strategy for planning one's suicide before one becomes demented. This has implications for how these genetic and clinical tests are marketed and deployed, and the language one uses to speak about them. The phrase ‘there is nothing one can do’ is insulting and disrespectful of the planned suicide option, as is the language of the Risk Evaluation and Education for Alzheimer's Disease studies and others that conclude that it is ‘safe’ to tell subjects their risk status for AD. Further, the argument put forward by some researchers that presymptomatic testing should remain within research protocols, and the results not shared with subjects until such time as treatments become available, disrespects the autonomy of people at high risk who consider suicide an option. (shrink)

Despite calls by some commentators for disclosing incidental fndings in genetics research, several factors weigh in favor of caution. The technology of genetics has the power to uncover a vast array of information. The most potent argument for restraint in disclosure is that much research is pursued without consent so that the individual participant may not know that research is being conducted at all. Often the work is done by investigators and at institutions with which the person has no prior (...) contact. Past practice is also relevant; genetics researchers historically have chosen not to disclose incidental fndings, of which misattributed paternity and pleiotropic alleles such as ApoE have been the most common. Many people choose not to have genetic tests when given a choice. It may be desirable to discuss the topic of incidental fndings when consent for research is obtained, but given the risk of unwanted surprise when there has been no prior discussion, the potential utility of incidental fndings should be very high before they are even ofered to individuals. (shrink)

There are countless variations on this theme. The call can come from one of your own physicians who was called by the investigator. Your physician may or may not be well informed on what the reported finding about Disease Y means or how to respond. DNA testing can reveal more than susceptibility to disease. People can learn that they do not have the biological connections — parentage or evidence of ethnic origin — that they thought they did.Colleagues who serve on (...) the Institutional Review Board in my institution tell me that they currently do not permit “cold calls” of the type portrayed in the opening paragraph. Such direct contacts have, however, occurred in the past, with or without the blessing of an IRB. Sharing findings with the individual’s physician, who is then supposed to serve as a learned and wise intermediary, is not without problems either, given that many physicians understand little about complex genetics. Yet the very existence of this project on managing incidental findings in research demonstrates that some people believe that some research findings ought to be available to participants. (shrink)