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Beyond odds ratios — communicating disease risk based on genetic profiles

Nature Reviews Genetics volume 10, pages 264–269 (2009)Cite this article

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.

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Figure 1: Age-specific risk of developing prostate cancer and type 2 diabetes in subsequent 5-year intervals.

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Acknowledgements

This work was supported in part by National Institutes of Health grants CA098233 and DK58845.

Author information

Authors and Affiliations

  1. Department of Epidemiology, Peter Kraft and David J. Hunter are at the Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Harvard School of Public Health, Boston, Massachusetts 02115, USA.,

    Peter Kraft & David J. Hunter

  2. David J. Hunter and Stephen Chanock are at the Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, Sholom Wacholder, Richard B Hayes, Gilles Thomas, Robert Hoover, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.,

    Sholom Wacholder, Richard B. Hayes, Gilles Thomas, Robert Hoover, David J. Hunter & Stephen Chanock

  3. Frank B. Hu and David J. Hunter are at the Department of Nutrition, Marilyn C. Cornelis, Harvard School of Public Health, Harvard School of Public Health, Boston, Massachusetts 02115, USA.,

    Marilyn C. Cornelis, Frank B. Hu & David J. Hunter

  4. David J. Hunter is at the Channing laboratory, Brigham and Women's Hospital and Harvard Medical School, Boston Massachusetts 02115, USA.,

    David J. Hunter

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  1. Peter Kraft
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Corresponding author

Correspondence to Peter Kraft.

Supplementary information

Supplementary information S1 (box)

Multi-locus risk models and the risk of overfitting (PDF 229 kb)

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FURTHER INFORMATION

Peter Kraft's homepage

A Catalogue of Published Genome-wide Association Studies

ACCE Project

deCODE ProstateCancer

Surveillance, Epidemiology and End Results (SEER) Program

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Kraft, P., Wacholder, S., Cornelis, M. et al. Beyond odds ratios — communicating disease risk based on genetic profiles. Nat Rev Genet 10, 264–269 (2009). https://doi.org/10.1038/nrg2516

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