Developing and evaluating polygenic risk prediction models for stratified disease prevention

Nat Rev Genet. 2016 Jul;17(7):392-406. doi: 10.1038/nrg.2016.27. Epub 2016 May 3.


Knowledge of genetics and its implications for human health is rapidly evolving in accordance with recent events, such as discoveries of large numbers of disease susceptibility loci from genome-wide association studies, the US Supreme Court ruling of the non-patentability of human genes, and the development of a regulatory framework for commercial genetic tests. In anticipation of the increasing relevance of genetic testing for the assessment of disease risks, this Review provides a summary of the methodologies used for building, evaluating and applying risk prediction models that include information from genetic testing and environmental risk factors. Potential applications of models for primary and secondary disease prevention are illustrated through several case studies, and future challenges and opportunities are discussed.

Publication types

  • Review

MeSH terms

  • Family Health
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods*
  • Genome-Wide Association Study / methods*
  • Genomics / methods*
  • Humans
  • Multifactorial Inheritance / genetics*
  • Risk Factors