Prediction of individual genetic risk of complex disease

Curr Opin Genet Dev. 2008 Jun;18(3):257-63. doi: 10.1016/j.gde.2008.07.006. Epub 2008 Aug 28.


Most common diseases are caused by multiple genetic and environmental factors. In the last 2 years, genome-wide association studies (GWAS) have identified polymorphisms that are associated with risk to common disease, but the effect of any one risk allele is typically small. By combining information from many risk variants, will it be possible to predict accurately each individual person's genetic risk for a disease? In this review we consider the lessons from GWAS and the implications for genetic risk prediction to common disease. We conclude that with larger GWAS sample sizes or by combining studies, accurate prediction of genetic risk will be possible, even if the causal mutations or the mechanisms by which they affect susceptibility are unknown.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers / analysis
  • Disease / genetics*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Individuality*
  • Prognosis
  • Risk


  • Biomarkers