Polygenic scores for psychiatric disease: from research tool to clinical application

Abstract

AbstractPropensity to psychiatric disease involves the contribution of multiple genetic variants with small individual effects (i. e., polygenicity). This contribution can be summarized using polygenic scores (PGSs). The present article discusses the methodological foundations of PGS calculation, together with the limitations and caveats of their use. Furthermore, we show that in terms of using genetic information to address the complexities of mental disorders, PGSs have become a standard tool in psychiatric research. PGS also have the potential for translation into clinical practice. Although PGSs alone do not allow reliable disease prediction, they have major potential value in terms of risk stratification, the identification of disorder subtypes, functional investigations, and case selection for experimental models. However, given the stigma associated with mental illness and the limited availability of effective interventions, risk prediction for common psychiatric disorders must be approached with particular caution, particularly in the non-regulated consumer context.