Clinical Genetics and Cardiovascular Disease

This infographic provides insights into the role of genetics in cardiovascular disease (CVD) and explains the impact of both rare and common genetic variants on disease risk.

What is Polygenic Risk Scoring (PRS)?

• PRS is a continuous measure of genetic risk derived from multiple genome-wide variants.
• Individuals in the top 20th percentile of PRS have a similar CVD risk to those with familial hypercholesterolemia, representing about a three-fold increase in risk.

Applications

• Risk Stratification: PRS helps identify high-risk individuals, especially younger adults, for early intervention using tools like CAC scoring and statins.
• Secondary Prevention: PRS can predict residual risk, guiding treatment intensification with lower LDL targets or additional therapies.

Limitations

• Lack of Diversity: Current PRS models are based on data from European populations, limiting their global applicability.
• Targeted Screening Required: To use PRS effectively, cost-efficient screening strategies are needed.
• More Prospective Data Needed: Validation in clinical practice will require larger, prospective studies.

Future Directions

1. Increase diversity in genomic repositories to improve PRS applicability across populations.
2. Explore the prevalence of subclinical CVD through trials such as ESCALATE in high-PRS patients.
3. Use pharmacogenetic PRS to guide drug selection, predict toxicity, and develop new clinical trial designs.

Created by Dr. Christian Faaborg Andersen
Reviewed by Dr. Richard A. Ferraro, Dr. Gurleen Kaur, and Dr. Pradeep Natarajan

For more on this topic, listen to 248. Cardiovascular Genomics: Frontiers in Clinical Genetics in Cardiovascular Prevention with Dr. Pradeep Natarajan.

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