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October 14, 2020

Could Polygenic Risk Scores Be Useful in Psychiatry?A Review

Author Affiliations
  • 1Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia
  • 2Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom
  • 3Cambridgeshire and Peterborough NHS Foundation Trust, Cambridge, United Kingdom
  • 4Departments of Psychiatry and Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
  • 5BC Mental Health and Substance Use Services Research Institute, Vancouver, British Columbia, Canada
  • 6Queensland Brain Institute, The University of Queensland, Brisbane, Australia
  • 7Queensland Centre for Mental Health Research, The Park Centre for Mental Health, Wacol, Australia
  • 8National Centre for Register-based Research, Aarhus University, Aarhus, Denmark
  • 9Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney, Sydney, Australia
JAMA Psychiatry. Published online October 14, 2020. doi:10.1001/jamapsychiatry.2020.3042

Importance  Polygenic risk scores (PRS) are predictors of the genetic susceptibility to diseases, calculated for individuals as weighted counts of thousands of risk variants in which the risk variants and their weights have been identified in genome-wide association studies. Polygenic risk scores show promise in aiding clinical decision-making in many areas of medical practice. This review evaluates the potential use of PRS in psychiatry.

Observations  On their own, PRS will never be able to establish or definitively predict a diagnosis of common complex conditions (eg, mental health disorders), because genetic factors only contribute part of the risk and PRS will only ever capture part of the genetic contribution. Combining PRS with other risk factors has potential to improve outcome prediction and aid clinical decision-making (eg, determining follow-up options for individuals seeking help who are at clinical risk of future illness). Prognostication of adverse physical health outcomes or response to treatment in clinical populations are of great interest for psychiatric practice, but data from larger samples are needed to develop and evaluate PRS.

Conclusions and Relevance  Polygenic risk scores will contribute to risk assessment in clinical psychiatry as it evolves to combine information from molecular, clinical, and lifestyle metrics. The genome-wide genotype data needed to calculate PRS are inexpensive to generate and could become available to psychiatrists as a by-product of practices in other medical specialties. The utility of PRS in clinical psychiatry, as well as ethical issues associated with their use, should be evaluated in the context of realistic expectations of what PRS can and cannot deliver. Clinical psychiatry has lagged behind other fields of health care in its use of new technologies and routine clinical data for research. Now is the time to catch up.

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