Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk

Department of Psychiatry, University of Cape Town, Cape Town, South Africa
Department of Medicine, University of Cape Town, Cape Town, South Africa
Broad Institute, Harvard University, Boston, Massachusetts, United States
Subject Areas
Genetics, Genomics, Ethical Issues, Medical Genetics
polygenic risk score, psychiatry, ethics, genetics, genomics, bioethics
© 2018 Palk et al.
This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ Preprints) and either DOI or URL of the article must be cited.
Cite this article
Palk AC, Dalvie S, De Vries J, Martin AR, Stein DJ. 2018. Potential use of clinical polygenic risk scores in psychiatry – ethical implications and communicating high polygenic risk. PeerJ Preprints 6:e27392v1


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 research and clinical contexts could have ethical implications , with a particular focus on potential challenges that could arise with the feedback and interpretation of high polygenic risk for a psychiatric disorder . 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.

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This is a preprint submission to PeerJ Preprints