Beyond odds ratios--communicating disease risk based on genetic profiles

Nat Rev Genet. 2009 Apr;10(4):264-9. doi: 10.1038/nrg2516.


The brisk discovery of novel inherited disease markers by genome-wide association (GWA) studies has raised expectations for predicting disease risk by analysing multiple common alleles. However, the statistics used during the discovery phase of research (such as odds ratios or p values for association) are not the most appropriate measures for evaluating the predictive value of genetic profiles. We argue that other measures--such as sensitivity, specificity, and positive and negative predictive values--are more useful when proposing a genetic profile for risk prediction.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Disease Susceptibility
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics*
  • Genome, Human
  • Genome-Wide Association Study* / statistics & numerical data
  • Humans
  • Odds Ratio
  • Predictive Value of Tests
  • Sensitivity and Specificity