Related Experiment Video
Updated: Aug 14, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Polygenic Risk Scores in Cardiovascular Prevention: Clinical Promise, Implementation Challenges, and Genomic Risk
1Clinical Laboratory Sciences, College of Applied Medical Sciences, Taif University, Taif, SAU.
Abstract:
Polygenic risk scores (PRS) have emerged as potential genomic tools for refining cardiovascular risk assessment, particularly for coronary artery disease (CAD). Because PRS combine information from multiple common genetic variants, they may offer an early estimate of inherited cardiovascular susceptibility before conventional risk markers become clinically apparent. This makes PRS relevant to preventive cardiology, especially for selected individuals with borderline, intermediate, or clinically underestimated CAD risk. However, improved prediction does not automatically establish clinical utility. Current evidence supports the clinical validity of CAD PRS in selected cohorts, including modest improvements in discrimination and risk reclassification when PRS is added to established clinical risk models. In contrast, evidence that routine PRS-guided care improves clinical outcomes remains limited. The clearest potential actionability pathway is CAD-focused lipid-lowering primary prevention, although PRS should support rather than determine statin decisions. Responsible implementation requires transparent reporting, clinician education, patient-centered communication, workflow integration, ancestry-aware validation, cost-effectiveness assessment, and outcome monitoring. Direct-to-consumer testing, limited transferability across ancestries, false reassurance, anxiety, overmedicalization, and inequitable access are important concerns if PRS is used prematurely or without clinical context. This focused narrative review evaluates cardiovascular PRS as preventive genomic tools and proposes a genomic risk stewardship framework for responsible clinical translation. At present, cardiovascular PRS should be considered, if used, as complementary risk modifiers rather than stand-alone screening tests.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetics and Pharmacogenomics: Overview
Polygenic Traits
Polygenic Traits