Psychiatric disorders present distinct clinical challenges which are partly attributable to their multifactorial aetiology and the absence of laboratory tests that can be used to confirm diagnosis or predict risk. Psychiatric disorders are highly heritable, but also polygenic, with genetic risk conferred by interactions between thousands of variants of small effect that can be summarized in a polygenic risk score. We discuss four areas in which the use of polygenic risk scores in psychiatric research and clinical contexts could have ethical (...) implications. First, there is concern that clinical use of polygenic risk scores may exacerbate existing health inequities. Second, research findings regarding polygenic risk could be misinterpreted in stigmatising or discriminatory ways. Third, there are concerns associated with testing minors as well as eugenics concerns elicited by prenatal polygenic risk testing. Fourth, potential challenges that could arise with the feedback and interpretation of high polygenic risk for a psychiatric disorder would require consideration. While there would be extensive overlap with the challenges of feeding back genetic findings in general, the potential clinical use of polygenic risk scoring warrants discussion in its own right, given the recency of this possibility. To this end, we discuss how lay interpretations of risk and genetic information could intersect. Consideration of these factors would be necessary for ensuring effective and constructive communication and interpretation of polygenic risk information which, in turn, could have implications for the uptake of any therapeutic recommendations. Recent advances in polygenic risk scoring have major implications for its clinical potential, however, care should be taken to ensure that communication of polygenic risk does not feed into problematic assumptions regarding mental disorders or support reductive interpretations. (shrink)

This article focuses on whether a certain form of consent used by biobanks – open consent – is compatible with the Proposed Data Protection Regulation. In an open consent procedure, the biobank requests consent once from the data subject for all future research uses of genetic material and data. However, as biobanks process personal data, they must comply with data protection law. Data protection law is currently undergoing reform. The Proposed Data Protection Regulation is the culmination of this reform and, (...) if voted into law, will constitute a new legal framework for biobanking. The Regulation puts strict conditions on consent – in particular relating to information which must be given to the data subject. It seems clear that open consent cannot meet these requirements. 4 categories of information cannot be provided with adequate specificity: purpose, recipient, possible third country transfers, data collected. However, whilst open consent cannot meet the formal requirements laid out by the Regulation, this is not to say that these requirements are substantially undebateable. Two arguments could be put forward suggesting the applicable consent requirements should be rethought. First, from policy documents regarding the drafting process, it seems that the informational requirements in the Regulation are so strict in order to protect the data subject from risks inherent in the use of the consent mechanism in a certain context – exemplified by the online context. There are substantial differences between this context and the biobanking context. Arguably, a consent transaction in the biobanking does not present the same type of risk to the data subject. If the risks are different, then perhaps there are also grounds for a reconsideration of consent requirements? Second, an argument can be made that the legislator drafted the Regulation based on certain assumptions as to the nature of ‘data’. The authors argue that these assumptions are difficult to apply to genetic data and accordingly a different approach to consent might be preferable. Such an approach might be more open consent friendly. (shrink)

The present paper focuses on essentialism about natural kinds as a case study in order to illustrate this more general point. Saul Kripke and Hilary Putnam famously argued that natural kinds have essences, which are discovered by science, and which determine the extensions of our natural kind terms and concepts. This line of thought has been enormously influential in philosophy, and is often taken to have been established beyond doubt. The argument for the conclusion, however, makes critical use of intuitions, (...) and I note that the intuitions are of the sort had by preschool children, and that they are traceable to a deep-seated cognitive outlook, which is often called “psychological essentialism.” Further, if we did not have such a cognitive outlook or implicit belief set—a belief set which is in fact in place by at least age 4—then we would not have the relevant philosophical intuitions. In light of this, I consider the question of whether natural kinds actually have scientifically discovered or discoverable essences, and whether these putative essences could determine the extensions of our terms and concepts as Kripke, Putnam, and many others have supposed. In fact, a number of philosophers of biology and chemistry have argued that biological and chemical kinds do not have such essences, yet these arguments—particularly in the case of chemistry—have not been assimilated by philosophers more generally. The reason for this poor assimilation is, I suggest, that the Kripke/Putnam view is just so intuitive. But this fact, I argue, is due to a deep-seated cognitive bias, rather than to any special insight into the nature of reality. (shrink)