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Updated: Jun 5, 2026
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic risk estimation in the Coriell Personalized Medicine Collaborative
Catharine B Stack1, Neda Gharani, Erynn S Gordon
1Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ 08103, USA. cstack@coriell.org
Summary
Personalized medicine reports communicate complex disease risks from genetic factors, family history, and lifestyle. This approach aids individuals in understanding their health predispositions for better management.
Area of Science:
- Genomics
- Personalized Medicine
- Public Health
Background:
- Genome-wide association studies (GWAS) have identified numerous single nucleotide polymorphisms (SNPs) linked to common complex diseases.
- There is a growing need to translate these genetic discoveries into actionable information for individuals.
Purpose of the Study:
- To evaluate the utility of personalized genomic information in healthcare.
- To develop a methodology for communicating complex disease risks to individuals.
Main Methods:
- The Coriell Personalized Medicine Collaborative (CPMC) observational study collects saliva samples for genotyping.
- Participants complete comprehensive online questionnaires on medical history, family history, and lifestyle.
- Actionable disease risks, as determined by an advisory board, are reported to participants.
Main Results:
- A methodology for generating personalized risk reports for genetic and nongenetic factors was developed.
- Risk estimates are presented as relative risk, ensuring consistent reporting across various factors.
- Disease prevalence estimates are also included in the reports.
Conclusions:
- The CPMC risk reports offer a web-based approach to communicating complex disease risks.
- These reports integrate risks from genetic variants, family history, and lifestyle factors.
- This facilitates a more comprehensive understanding of individual disease predispositions.
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