Related Experiment Video
Updated: Aug 5, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Familial relative risk estimates for use in epidemiologic analyses
Yutaka Yasui1, Polly A Newcomb, Amy Trentham-Dietz
1Department of Public Health Sciences, School of Public Health, University of Alberta, Edmonton, Alberta, Canada. yyasui@ualberta.ca
This study introduces a new method to estimate familial relative risk, improving upon the traditional Family History Score. The empirical Bayes approach provides a more accurate measure of genetic risk for diseases like breast cancer.
Area of Science:
- Epidemiology
- Biostatistics
- Genetics
Background:
- Traditional family history assessments for disease risk often overlook crucial factors like family structure and age at disease onset.
- The widely used Family History Score, while accounting for some factors, does not estimate familial relative risk but rather statistical significance.
Purpose of the Study:
- To develop and evaluate an empirical Bayes method for estimating familial relative risk.
- To compare this new method against existing family history summaries, including the Family History Score.
Main Methods:
- Utilized a two-level hierarchical model within an empirical Bayes framework.
- The first level models familial relative risk, and the second level uses a Poisson count for affected relatives based on this risk.
- Applied the methodology to a population-based case-control study of breast cancer.
Main Results:
- The new empirical Bayes estimates of familial relative risk showed a stronger association with case-control status than traditional methods.
- The proposed method more effectively identified effect modification of environmental risk factors by familial relative risk.
- Demonstrated superior performance compared to the Family History Score and other common family history summaries.
Conclusions:
- The empirical Bayes approach offers a more robust and informative estimate of familial relative risk.
- This method enhances the understanding of genetic contributions to disease and their interaction with environmental factors.
- The findings suggest this new methodology can improve risk assessment and identify gene-environment interactions in epidemiological studies.
Related Concept Videos
Relative Risk
Odds Ratio
Probability Laws
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast, controlled...
Statistical Methods for Analyzing Epidemiological Data
Hazard Ratio
For example, in a clinical trial evaluating a...