Abstract
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.
Highlights
Psychiatric disorders present distinct clinical challenges due to the fact that their diagnosis relies predominantly on observing a patient’s behaviour and on their reporting symptoms rather than on clinical tests for biomarkers
In this paper we have looked at some of the ethical implications of polygenic risk score (PRS) with a focus on certain challenges that could arise in the communication and interpretation of a high PRS
This is because the way in which PRS feedback is interpreted would have direct bearing on the uptake of any therapeutic recommendations or preventative measures
Summary
Psychiatric disorders present distinct clinical challenges due to the fact that their diagnosis relies predominantly on observing a patient’s behaviour and on their reporting symptoms rather than on clinical tests for biomarkers. There has been abundant research and discussion of the nature of these challenges which include: issues of privacy and confidentiality, implications for family members, the potential for stigma, and the way in which such information is communicated and understood, so as to minimize psychological distress to patients [81–83] While all of these concerns would be relevant in the case of a clinical PRS, we argue that particular attention should be paid to the difficulties associated with the communication and interpretation of results. It is possible that if feedback of high psychiatric risk is interpreted through a stigmatising ‘lens’ this could further confound matters and negatively impact self-conception
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