Risk assessment beyond traditional risk factors

Polygenic Risk Score

AI search August 2025 version 2

The work of leading genetic cardiologists like Dr. Amit Khera and his collaborators is what informs the current understanding. Their publications, often in high-impact journals like the New England Journal of Medicine, Circulation, and JAMA, are essential for staying current. The search results point to key papers that represent this body of work, such as those from the Broad Institute and Mass General, which are highly relevant to Irrebaran's work.

Example Publication: A landmark study from the Khera group demonstrated the predictive power of a polygenic score for CAD and its ability to identify high-risk individuals who could benefit from statin therapy. While this specific paper's link was not provided by the search, its existence is a cornerstone of the field. A similar paper from the same research group is: Polygenic Risk Score Improves the Accuracy of a Clinical Risk Score for Coronary Artery Disease

In summary, for a cardiologist, the key takeaway is that PRS is moving rapidly from the research bench to the bedside. While not yet part of formal guidelines for all patients, it is a powerful tool for enhanced risk stratification, especially in the context of primary prevention for individuals at intermediate risk or with a strong family history, and it is poised to become a standard of care in the near future.

Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting

Polygenic Risk Score Improves the Accuracy of a Clinical Risk Score for Coronary Artery Disease

Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association

Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart AssociationCirculation Volume 146, Number 8

https://doi.org/10.1161/CIR.0000000000001077

Journal Article

Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease: A clinical consensus statement of the ESC Council on Cardiovascular Genomics, the ESC Cardiovascular Risk Collaboration, and the European Association of Preventive Cardiology

European Heart Journal, Volume 46, Issue 15, 14 April 2025, Pages 1372–1383, https://doi.org/10.1093/eurheartj/ehae649

Published: 05 February 2025

European Heart Journal, Volume 46, Issue 15, 14 April 2025, Pages 1372–1383, https://doi.org/10.1093/eurheartj/ehae649

Published: 05 February 2025

European Heart Journal, Volume 46, Issue 15, 14 April 2025, Pages 1372–1383, https://doi.org/10.1093/eurheartj/ehae649

Published: 05 February 2025