Integrated polygenic risk score 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
MENLO PARK, Calif., Nov. 2, 2023 /PRNewswire/ — MyOme, Inc., a pioneering clinical whole genome platform analysis company specializing in polygenic risk scores, will present data during the 2023 American Society of Human Genetics (ASHG) Annual Meeting taking place from November 1-5, 2023 in Washington, DC. The focus will be 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.
Traditionally, most CAD risk assessment tools and tests have been validated on a relatively narrow population. 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.
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. MyOme has developed and validated an integrated risk score that combines a cross-ancestry PRS with the PCE (caIRS).
Key findings include:
- The caIRS significantly improved discrimination compared to the PCE in all validation cohorts and ancestries tested
- South Asian individuals exhibited the most substantial increase in discrimination, with a 6% increase in C-index, and a Net Reclassification Index (NRI): 15.33 (95% CI; 6.23 – 24.07)
- The caIRS identified up to 27 additional CAD cases per 1,000 individuals in the borderline/intermediate PCE group
“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 Akash Kumar, MD, PhD, chief medical and scientific officer of MyOme. “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.”
Presentation time:
Abstract #: PB4223
Title: Integration of Polygenic Risk Scores with Clinical Factors Improves 10-year Risk Prediction of Coronary Artery Disease
Location: Statistical Genetics and Genetic Epidemiology Poster Session I, Exhibit & Poster Hall AB
Session Date and Time: Thursday, November 2nd, 3:00PM – 5:00PM ET
In addition to the caIRS, MyOme’s work in screening copy number variation with an autoencoder will also be highlighted at the meeting.
Abstract #: PB3470
Title: Screening Copy Number Variation with an Autoencoder
Location: Omics Technologies Poster Session II, Exhibit & Poster Hall AB
Session Date and Time: Friday, November 3rd, 3:00PM- 5:00PM ET
About MyOme
MyOme is a clinical whole genome analysis platform company helping families understand their risk for inherited diseases. As a leader in polygenic modeling, MyOme leverages the power of the whole genome for a lifetime of actionable insights. Certified under the Clinical Laboratory Improvement Amendments (CLIA), MyOme is based in Menlo Park, California. For more information, please visit myome.com.
SOURCE MyOme, Inc
