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Updated: Jun 25, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Beyond odds ratios--communicating disease risk based on genetic profiles
Peter Kraft1, Sholom Wacholder, Marilyn C Cornelis
1Harvard School of Public Health, Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115, USA. pkraft@hsph.harvard.edu
Genome-wide association studies identify disease markers, but discovery statistics like p-values are poor for predicting individual disease risk. Predictive values such as sensitivity and specificity are better suited for evaluating genetic profiles for risk assessment.
Area of Science:
- Genetics and Genomics
- Biostatistics
- Disease Risk Prediction
Background:
- Genome-wide association studies (GWAS) have accelerated the discovery of genetic markers for inherited diseases.
- This has led to increased interest in using genetic profiles for disease risk prediction.
Purpose of the Study:
- To evaluate the suitability of different statistical measures for assessing the predictive value of genetic profiles.
- To advocate for more appropriate statistical metrics for genetic risk prediction.
Main Methods:
- The study critically reviews statistical measures commonly used in genetic association studies.
- It contrasts these with measures more relevant to predictive performance.
Main Results:
- Standard association statistics (odds ratios, p-values) from the discovery phase are insufficient for evaluating predictive accuracy.
- Measures like sensitivity, specificity, and predictive values are more informative for assessing genetic profiles.
Conclusions:
- The utility of genetic profiles for disease risk prediction requires evaluation using appropriate predictive metrics.
- A shift in statistical focus is needed from association to prediction evaluation.
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