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New Diagnostic Approach Combines DNA Testing With AI Analysis for Coronary Heart Disease Risk Assessment

By LabMedica International staff writers
Posted on 10 May 2023
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Image: Epi+Gen CHD is a patented next generation test that assesses near-term (3-year) risk for a heart attack (Photo courtesy of Cardio Diagnostics)
Image: Epi+Gen CHD is a patented next generation test that assesses near-term (3-year) risk for a heart attack (Photo courtesy of Cardio Diagnostics)

Although preventative health is crucial in managing cardiovascular disease, for the last three decades, healthcare professionals have had to depend on limited, one-dimensional methods to guide preventive care. Currently, primary care practitioners have only the Framingham Risk Score (FRS) and the Atherosclerotic Cardiovascular Disease (ASCVD) Risk Calculator to predict the likelihood of future heart disease. However, these tools demonstrate poor performance in both research environments and real-world practice. A novel test now merges epigenetics, genetics, high-throughput computing, and artificial intelligence to pinpoint individuals at risk for coronary heart disease, a critical factor in delivering cost-effective health care to adults.

Cardio Diagnostics Inc. (Chicago IL, USA) has developed Epi+Gen CHD as an alternative to the existing tests available. Epi+Gen CHD not only identifies those at a lower risk of developing coronary heart disease, which current tests accurately do, but also recognizes those at a higher risk, an aspect where current tests fall short. The test focuses on coronary heart disease risk since it is the most prevalent type of heart disease and the primary cause of heart attacks.

Epi+Gen CHD adopts an entirely new approach to evaluating coronary heart disease risk by integrating DNA testing of genetic and epigenetic biomarkers with AI-driven analysis to produce personalized risk profiles for each patient. The test assesses DNA methylation status at three loci and genotype at five loci. An AI-guided algorithm then interprets the DNA methylation results in relation to genetic variations. This method enables the understanding of epigenetic signatures that might otherwise be obscured by background genetic variation. As the first comprehensive and sensitive genetic-epigenetic clinical test for determining the three-year heart attack risk, Epi+Gen CHD represents the future of preventive cardiovascular disease care.

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