Predicting who will develop coronary heart disease (CHD) remains one of the most persistent challenges in preventive cardiology.
Using conventional methods, patients with low risk for CHD sometimes present with acute events, while others thought to be at high risk may remain event-free for years. This unpredictability underscores the complexity of the disease, and the need for more precise approaches to prevention.
What is Precision Medicine?
Precision Medicine is an approach to care that recognizes that no two patients are the same. Instead of relying solely on population averages, it considers the unique biological and environmental factors that shape an individual’s health. Genetic assessments can reveal inherited predispositions, while epigenetic assessments capture how lifestyle and environment influence disease pathways. By integrating these layers, Precision Medicine provides patient-specific insights that complement, rather than replace, established tools such as risk scores and imaging.1,2
For cardiologists, this approach is particularly valuable because patient journeys are not always linear. Some individuals are identified during routine screening, others first present when symptoms develop, and many require long-term management after diagnosis. Precision Medicine can contribute at each of these points, clarifying risk, detecting disease earlier, and providing a way to monitor biological change over time.
Despite significant progress, important gaps remain in how heart disease risk is assessed. Tools such as ASCVD and Framingham Risk Scores provide valuable population-level estimates, but they cannot fully capture individual biology. As a result, some patients later present acutely with a CHD event such as a heart attack, despite being classified as low risk.1 Risk assessment can be especially difficult for patients in the “gray zone”, not clearly low-risk, not clearly high-risk.
Epi+Gen CHD™ addresses this challenge by combining six genetic and three epigenetic markers to generate a personalized, three-year estimate of a coronary heart disease event risk, including risk for a heart attack. A former smoker, for example, may still carry methylation signatures that elevate their profile, while individuals with metabolic factors may show inflammatory patterns not reflected in conventional scores. Epi+Gen CHD™ supports earlier identification of elevated risk and more tailored preventive discussions.
Diagnostic tools such as imaging and stress tests are valuable for evaluating disease once it is established, yet they can miss earlier or non-obstructive forms. More than half of patients who experience a heart attack report no prior symptoms, and among women with angina, up to half may have INOCA (Ischemia with No Obstructive Coronary Arteries), a condition not detectable with angiography.3,4 These realities highlight the diagnostic blind spots where Precision Medicine can provide additional clarity.
PrecisionCHD™ is designed to detect molecular signals of coronary heart disease, whether obstruction is visible or not. The test also generates an Actionable Clinical Intelligence™ report, which connects molecular findings to modifiable risk factors and can help inform treatment decisions. This combination of molecular evidence and actionable insights may provide additional clarity when symptoms and imaging results do not align.
As clinical management proceeds, patient biology can evolve with treatment and lifestyle changes. Traditional follow-up, labs and imaging, provide important markers but may not fully capture these molecular shifts. For example, it is well established that treatment with statins elevates serum glucose levels; but conventional risk assessment methods struggle to capture those effects.5
In contrast, because epigenetic signatures are dynamic, repeat testing with PrecisionCHD™ can offer a way to observe whether interventions are altering methylation markers associated with disease pathways. A decline in adverse signatures may suggest improvement, while persistent findings may indicate the need for adjustment. This type of molecular monitoring adds another dimension to management, making follow-up more responsive and individualized.
Viewed across the continuum, Precision Medicine complements the tools already in use. It can refine risk stratification, contribute to disease detection, provide further insights when results are inconclusive, and provide a framework for monitoring change over time. By anchoring decisions in molecular evidence, tests such as Epi+Gen CHD™ and PrecisionCHD™ extend the reach of preventive cardiology without displacing established practice.
As cardiology evolves, Precision Medicine will not replace existing tools, but it will reshape how they are used, bringing the field closer to its long-standing goal of prevention that is predictive, personalized, and proactive.
Dogan MV, et al. Integrated genetic and epigenetic prediction of coronary heart disease in the Framingham Heart Study. PLoS ONE. 2018.
Zhang X, et al. Identification of DNA methylation-regulated genes as potential biomarkers for CHD. Clinical Epigenetics. 2022.
American Heart Association. Heart Disease and Stroke Statistics - 2022 Update. Circulation. 2022.
Taqueti VR, Shaw LJ. Women and ischemia with non-obstructive coronary arteries (INOCA). Circulation. 2017.
Bredefeld, C.L., Choi, P., Cullen, T. et al. Statin Use and Hyperglycemia: Do Statins Cause Diabetes?. Curr Atheroscler Rep 27, 18 (2025). https://doi.org/10.1007/s11883-024-01266-8
