Polygenic risk scores for cardiovascular disease: clinical utility and limitations

Cardiovascular diseases (CVDs) are the leading cause of mortality worldwide, highlighting the need for improved risk prediction and prevention strategies. Polygenic Risk Scores (PRS), derived from genome-wide association studies (GWAS), offer a novel approach to estimating an individual's genetic predisposition to conditions such as coronary artery disease (CAD), atrial fibrillation (AF), and heart failure (HF).

PRS can improve early risk stratification, particularly among individuals with high genetic susceptibility who may not yet present traditional risk factors. Evidence suggests that PRS enhances risk prediction in younger populations and may inform targeted prevention efforts. However, several limitations constrain their clinical utility. These include limited predictive power relative to conventional risk models, a lack of diverse population representation in GWAS, and challenges in incorporating PRS into routine clinical workflows.

While PRS holds promise for advancing personalized cardiovascular care, its clinical implementation requires overcoming key limitations. Increasing diversity in genetic research and integrating PRS with established clinical risk tools are critical steps toward realizing their full potential in CVD prevention and management.