Beyond odds ratios - Communicating disease risk based on genetic profiles

Peter Kraft*, Sholom Wacholder, Marilyn C. Cornelis, Frank B. Hu, Richard B. Hayes, Gilles Thomas, Robert Hoover, David J. Hunter, Stephen Chanock

*Corresponding author for this work

Research output: Contribution to journalReview article

120 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)264-269
Number of pages6
JournalNature Reviews Genetics
Volume10
Issue number4
DOIs
StatePublished - Apr 2009

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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