Ethical issues

Author: A. Read
Submitted: Saturday 25th of September 2010 08:28:32 AM
Submitted by: egf
Educational levels: expert, qc3


People feel that genetics raises uniquely sensitive ethical issues. I sometimes show a diagram of the two variant PCR products from the amelogenin gene. I say that pattern A, although fairly common in the general population, is found in over 90% of the prison population, and virtually 100% of prisoners convicted for violent or sexual offences. People generally feel this raises tremendous ethical issues about personal responsibility and the justice system. When I say that the patterns show the presence or absence of a Y chromosome, people complain they have been tricked, and that there are no ethical issues. In other words, genetics acts a sticky flypaper, on which people’s buzzing worries about a whole range of issues alight and stick. Exactly the same information is seen as highly problematic if presented as a genetic finding, but totally uncontroversial if presented in another context. The perception that genetics is uniquely problematic rests partly on the assumption that all genetic tests resemble a Huntington disease predictive test. This highlights the importance of distinguishing service from research. Sometimes, however, the dividing line is not clear. Suppose you are sent DNA from a patient in order to check whether she has a mutation in either of the two genes known to cause her condition. You report back that your tests were negative, but you store the sample. Two years later a researcher in another country contacts you, saying his mouse research has suggested a new candidate gene. Could you send him any relevant human samples you have so that he can check whether it causes the condition in humans? Is this service or research? In both research and service there is a need to balance benefits and harms, but sometimes this is not quite straightforward (Thomson 2008). Considering research, there are issues of process (consent and feedback – see Reilly 1997, Taylor 2008), but the main genetic issue concerns prediction. Can your results make any predictions, and if so, for whom, and how strong is the prediction? Research to identify causative genes or susceptibility factors requires subjects with known disease status, and so in general research results are unlikely to be predictive. However, there is the possibility of discovering unexpected significant findings – the opposite of serendipity. This is not a problem with focussed DNA tests, but arises whenever a test looks at the whole genome. Traditional cytogenetic and family linkage investigations have always raised the risk of discovering non-paternity or abnormal sex chromosome status. Array-based methods, and especially whole exome and whole genome sequencing, raise extra possibilities of discovering unwanted predictive information. It is important to have a policy decided in advance, and agreed with research subjects, about how to handle any such discovery. Questions of anonymisation are important in research. Irreversible anonymisation may protect subjects, but it removes the possibility of feedback. Homer (2008) has shown that publishing even aggregated genotype data in case-control studies may make it possible to work out whether a specific person was part of the case series. Perhaps in this age of Google and Facebook we should be less concerned about anonymity? George Church would certainly think so (Hayden 2008). But when Jim Watson’s genome sequence was published (Wheeler 2008), he deleted his APOE genotype. Maybe the very strong concern about anonymity stems from the exaggerated view of the predictive power of genetic information? References Hayden EC, Meet Exhibit 1. Nature 451: 763-765; 2008. Homer N et al., Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genetics 4: e1000167; 2008. Reilly PR et al., Ethical issues in genetic research: disclosure and informed consent. Nat Genet 15: 16-20; 1997. Taylor P, When consent gets in the way. Nature 456: 32-33; 2008. Thomson JJ. Turning the trolley. Philosophy and Public Affairs 36: 359-374; 2008. Wheeler DA et al., The complete genome of an individual by massively parallel DNA sequencing. Nature 452: 872-876 ; 2008.


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A. Read. Ethical issues. EUROGENE portal. September 2010. online:

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