Polygenic risk scores: from research tools to clinical instruments

Genome-wide association studies have shown unequivocally that common complex disorders have a polygenic genetic architecture and have enabled researchers to identify genetic variants associated with diseases. These variants can be combined into a polygenic risk score that captures part of an individual's susceptibility to diseases. Polygenic risk scores have been widely applied in research studies, confirming the association between the scores and disease status, but their clinical utility has yet to be established. Polygenic risk scores may be used to estimate an individual's lifetime genetic risk of disease, but the current discriminative ability is low in the general population. Clinical implementation of…

• SL
  South London and Maudsley NHS Foundation Trust
• NI
  National Institute for Health and Care Research
• DO
  Department of Health and Social Care
• KC
  King's College London
• MR
  Medical Research Council

  Awards: MR/N015746/1, MR/N015746, N015746/1, MR/N015746/1