MyOme presented data from a poster at the American Society of Human Genetics (ASHG) conference which focused on the integrated polygenic risk score (caIRS), which combines genetics with traditional clinical risk factors to improve the identification of high-risk individuals for coronary artery disease (CAD) across diverse populations.

The results demonstrated that the caIRS more accurately identified individuals at elevated risk for developing coronary artery disease, especially within borderline or intermediate clinical risk categories and for South Asian individuals.

Traditionally, most CAD risk assessment tools and tests have been validated on a relatively narrow population, according to Akash Kumar, MD, PhD, chief medical and scientific officer of MyOme. The most commonly used tool, the Atherosclerotic Cardiovascular Disease (ASCVD) Pooled Cohort Equation (PCE), relies on standard measures like cholesterol levels and diabetes status to predict a 10-year CAD risk and guide decisions regarding the initiation of statin treatment, noted Kumar.

Integrates millions of genetic variants

Polygenic risk scores (PRS), which aggregate millions of genetic variants of small effect size into a single score, offer the potential to improve the accuracy of clinical risk assessment tools,” continued Kumar. MyOme has developed and validated an integrated risk score that combines a cross-ancestry PRS with the caIRS.

The key findings from the presentation showed that the caIRS significantly improved discrimination compared to the PCE in all validation cohorts and ancestries tested. The caIRS also identified up to 27 additional CAD cases per 1,000 individuals in the borderline/intermediate PCE group. In addition, South Asian individuals exhibited the most substantial increase in discrimination.

“MyOme’s integrated risk score may enhance disease prevention and management within primary care by identifying individuals at elevated risk of developing CAD, who might have otherwise been missed,” said Kumar. “Notably, caIRS was significantly effective in identifying South Asian individuals at risk for CAD, which is crucial due to their nearly double CAD mortality rate compared to Europeans.”

The Myome poster presentation was entitled “Integration of Polygenic Risk Scores with Clinical Factors Improves 10-year Risk Prediction of Coronary Artery Disease.”

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