Prospects for using risk scores in polygenic medicine

Genome Med. 2017 Nov 13;9(1):96. doi: 10.1186/s13073-017-0489-y.


Genome-wide association studies have made strides in identifying common variation associated with disease. The modest effect sizes preclude risk prediction based on single genetic variants, but polygenic risk scores that combine thousands of variants show some predictive ability across a range of complex traits and diseases, including neuropsychiatric disorders. Here, we consider the potential for translation to clinical use.

MeSH terms

  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Mental Disorders / genetics
  • Risk