Polygenic risk score as clinical utility in psychiatry: a clinical viewpoint

Masashi Ikeda, Takeo Saito, Tetsufumi Kanazawa, Nakao Iwata

Research output: Contribution to journalReview articlepeer-review

11 Citations (Scopus)


Genome-wide association studies (GWASs) have detected many susceptible variants for common diseases, including psychiatric disorders. However, because of the small effect size of each variant, clinical utility that aims for risk prediction and/or diagnostic assistance based on the individual “variants” is difficult to use. Therefore, to improve the statistical power, polygenic risk score (PRS) has been established and applied in the GWAS as a robust analytic tool. Although PRS has potential predictive ability, because of its current “insufficient” discriminative power at the individual level for clinical use, it remains limited solely in the research area, specifically in the psychiatric field. For a better understanding of the PRS, in this review, we (1) introduce the clinical features of psychiatric disorders, (2) summarize the recent GWAS/PRS findings in the psychiatric disorders, (3) evaluate the problems of PRS, and (4) propose its possible utility to apply PRS into the psychiatric clinical setting.

Original languageEnglish
Pages (from-to)53-60
Number of pages8
JournalJournal of Human Genetics
Issue number1
Publication statusPublished - 01-2021

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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