Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic Implications

Area of Science:

• Cardiovascular Genetics
• Genomic Medicine
• Preventive Cardiology

Background:

• Atherosclerotic cardiovascular disease (ASCVD) risk is influenced by clinical and lifestyle factors.
• Growing understanding of the genetic basis of ASCVD, particularly coronary artery disease (CAD), prompts interest in genetic predictors.
• Current prevention strategies for ASCVD are multifaceted.

Purpose of the Study:

• To review the development and evaluation of polygenic risk scores (PRS) for ASCVD.
• To discuss the clinical utility and mechanistic insights of PRS in CAD risk prediction.
• To explore practical considerations for implementing PRS in healthcare.

Main Methods:

• Genomic analyses of CAD have been used to create polygenic risk scores.
• Evaluation of the clinical utility of PRS through various studies.
• Review of mechanistic insights and implementation strategies for PRS.

Main Results:

• Polygenic risk scores are increasingly being developed using large-scale genotyping data.
• Studies are evaluating the ability of PRS to improve upon traditional risk factors for predicting ASCVD events.
• Mechanistic studies are providing insights into how genetic variants contribute to disease pathogenesis.

Conclusions:

• PRS represent a promising tool for refining ASCVD risk assessment and potentially guiding preventive strategies.
• Further research is necessary to validate PRS across diverse populations and determine optimal implementation pathways.
• Integration of PRS into clinical practice requires careful consideration of ethical, logistical, and clinical utility aspects.