Potential use of clinical polygenic risk scores in psychiatry - Ethical implications and communicating high polygenic risk

A. C. Palk, S. Dalvie, J. De Vries, A. R. Martin, D. J. Stein

Research output: Contribution to journalReview articlepeer-review

47 Scopus citations


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.

Original languageEnglish
Article number4
JournalPhilosophy, Ethics, and Humanities in Medicine
Issue number1
StatePublished - 27 Feb 2019
Externally publishedYes


  • Bioethics
  • Complex risk
  • Ethics
  • Polygenic risk score
  • Psychiatric genetic risk
  • Risk communication
  • Risk interpretation


Dive into the research topics of 'Potential use of clinical polygenic risk scores in psychiatry - Ethical implications and communicating high polygenic risk'. Together they form a unique fingerprint.

Cite this