Development of an Integrated Monogenic and Polygenic Risk Assessment Tool for Coronary Artery Disease and Its Application in a Community-Based Health Care Biobank

BACKGROUND: ] improves identification of high-risk individuals in the general population remains understudied. METHODS: was developed using Cox regression in 226 145 UK Biobank participants, validated in the remaining 226 145 UK Biobank participants, and applied to 20 477 participants of the Genomic Health Initiative, a community-based health care biobank. Predictive performance was evaluated and adjusted for clinical risk factors. RESULTS: would hypothetically identify 20.75% of all incident CAD, 69-fold higher than current monogenic testing (0.3%). Results were generally consistent across ancestry populations, although the sample size of non-European participants was limited. CONCLUSIONS: , improves identification of individuals at high genetic risk for CAD across diverse populations.

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Publication Details

Journal
Circulation Genomic and Precision Medicine
Published
2026-04-10
DOI
https://doi.org/10.1161/circgen.125.005494
Primary Topic
Genetic Associations and Epidemiology
Type
article
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article

Development of an Integrated Monogenic and Polygenic Risk Assessment Tool for Coronary Artery Disease and Its Application in a Community-Based Health Care Biobank

Sumeet A. Khetarpal, Osama Siddiqui, Henry M. Dunnenberger, Amit V. Khera et al.
Circulation Genomic and Precision Medicine
Genetic Associations and Epidemiology
article

Development of an Integrated Monogenic and Polygenic Risk Assessment Tool for Coronary Artery Disease and Its Application in a Community-Based Health Care Biobank

Sumeet A. Khetarpal, Osama Siddiqui, Henry M. Dunnenberger, Amit V. Khera, Arman Qamar, David Duggan, Peter J. Hulick, David Davidson, Brian T. Helfand, Zhuqing Shi, Huy Tran, S. Lilly Zheng, Jun Wei, Alan R. Sanders, Ashley J. Mulford, Annabelle Ashworth
article en

Abstract

BACKGROUND: ] improves identification of high-risk individuals in the general population remains understudied. METHODS: was developed using Cox regression in 226 145 UK Biobank participants, validated in the remaining 226 145 UK Biobank participants, and applied to 20 477 participants of the Genomic Health Initiative, a community-based health care biobank. Predictive performance was evaluated and adjusted for clinical risk factors. RESULTS: would hypothetically identify 20.75% of all incident CAD, 69-fold higher than current monogenic testing (0.3%). Results were generally consistent across ancestry populations, although the sample size of non-European participants was limited. CONCLUSIONS: , improves identification of individuals at high genetic risk for CAD across diverse populations.

Circulation Genomic and Precision Medicine
Broad Institute (US), Brigham and Women's Hospital (US), Translational Genomics Research Institute (US), NorthShore University HealthSystem (US), Harvard University (US), University of Chicago (US), Massachusetts General Hospital (US), Verve Therapeutics (United States) (US), Center for Genomic Science (IT), Genomic Health (United States) (US), Mass General Brigham (US), University of Virginia (US)
Good health and well-being
Openalex Percentile: Top 24%
Genetic Associations and Epidemiology
DOISourceOpenAlex
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