Polygenic Risk Scores in Cardiovascular Prevention: Clinical Promise, Implementation Challenges, and Genomic Risk...

Area of Science:

• Genomics and Preventive Cardiology
• Cardiovascular Disease Risk Stratification

Background:

• Polygenic risk scores (PRS) integrate multiple genetic variants for early assessment of inherited cardiovascular susceptibility.
• PRS may identify individuals with underestimated coronary artery disease (CAD) risk before conventional markers appear.

Purpose of the Study:

• To evaluate cardiovascular PRS as preventive genomic tools for CAD risk assessment.
• To propose a genomic risk stewardship framework for responsible clinical translation of PRS.

Main Methods:

• Narrative review of current evidence on cardiovascular PRS.
• Analysis of clinical validity, utility, and implementation challenges of PRS in CAD.

Main Results:

• CAD PRS demonstrate clinical validity with modest improvements in risk prediction when added to existing models.
• Evidence for PRS-guided care improving clinical outcomes is limited; actionability is clearest in lipid-lowering primary prevention.
• Responsible implementation requires addressing transparency, education, communication, ancestry, cost, and outcomes.

Conclusions:

• Cardiovascular PRS are best used as complementary risk modifiers, not stand-alone screening tools.
• Genomic risk stewardship is essential for responsible clinical translation, considering potential concerns like inequitable access and overmedicalization.