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

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JOURNAL OF HUMAN GENETICS
卷 66, 期 1, 页码 53-60

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SPRINGERNATURE
DOI: 10.1038/s10038-020-0814-y

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资金

  1. Strategic Research Program for Brain Sciences (SRPBS) from the Japan Agency for Medical Research and Development (AMED) [JP20dm0107097]
  2. GRIFIN of P3GM from AMED [JP20km0405201, JP20km0405208]
  3. Health and Labor Sciences Research Grant [20GC1017]
  4. JSPS Kakenhi Grant [JP25293253, JP16H05378, JP26293266, JP17H04251, JP18K15497]
  5. Private University Research Branding Project from MEXT

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GWAS has identified susceptible variants for psychiatric disorders, but the small effect size of individual variants limits the clinical utility of PRS for risk prediction and diagnosis at the individual level. Therefore, PRS remains primarily a research tool in the psychiatric field.
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.

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