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Polygenic risk scores for the prediction of cardiometabolic disease

Jack W O'Sullivan1,2, Euan A Ashley1,2,3, Perry M Elliott4,5

  • 1Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Stanford, CA, USA.

European Heart Journal
|December 8, 2022
PubMed

Insights

Polygenic risk scores (PRSs) enhance prediction for cardiometabolic diseases like coronary artery disease and type 2 diabetes. While promising for conditions including atrial fibrillation, further research is needed for broader clinical use.

Area of Science:

  • Genetics and Precision Medicine
  • Cardiovascular and Metabolic Research

Background:

  • Cardiometabolic diseases are a leading cause of global morbidity and mortality.
  • Polygenic risk scores (PRSs) integrate multiple genetic variants to predict disease risk.
  • This review examines PRS utility across seven common cardiometabolic conditions.

Approach:

  • Systematic review of evidence for PRS in coronary artery disease (CAD), stroke, hypertension, heart failure, cardiomyopathies, obesity, atrial fibrillation (AF), and type 2 diabetes mellitus (T2DM).
  • Evaluation of PRS performance in improving clinical prediction models.

Key Points:

  • PRS for CAD, AF, and T2DM show consistent improvement in prediction when added to existing clinical risk tools.
  • PRS application for ischaemic stroke and hypertension is currently premature.
  • Larger, diverse populations and refined phenotyping are crucial for advancing PRS clinical utility.

Conclusions:

  • PRS represent a significant advancement in predicting cardiometabolic disease development and complications.
  • Clinical implementation of PRS is most robust for CAD, AF, and T2DM.
  • Future research directions include expanding PRS utility through diverse cohorts and detailed phenotyping.

Keywords:
GeneticsPolygenic risk scoresPrecision Medicine

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