Genes can determine risk for coronary heart disease: Study by the Icahn School of Medicine

Using machine learning and clinical data from electronic health records, researchers at the Icahn School of Medicine at Mount Sinai in New York constructed an in silico, or computer-derived, marker for coronary artery disease (CAD) to better measure clinically important characterizations of the disease.

The findings, published online in The Lancet, may lead to more targeted diagnosis and better disease management of CAD, the most common type of heart disease and a leading cause of death worldwide. The study is the first known research to map characteristics of CAD on a spectrum. Previous studies have focused only on whether or not a patient has CAD.

 “The information gained from this non-invasive staging of disease could empower clinicians by more accurately assessing patient status and, therefore, inform the development of more targeted treatment plans,” says Ron Do, PhD, senior study author and the Charles Bronfman Professor in Personalized Medicine at the Icahn School of Medicine at Mount Sinai.

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“Our model delineates coronary artery disease patient populations on a disease spectrum; this could provide more insights into disease progression and how those affected will respond to treatment. Having the ability to reveal distinct gradations of disease risk, atherosclerosis, and survival, for example, which may otherwise be missed with a conventional binary framework, is critical.”

The model, which the researchers termed a “digital marker,” incorporated hundreds of different clinical features from the electronic health record, including vital signs, laboratory test results, medications, symptoms, and diagnoses, and compared it to both an existing clinical score for CAD, which uses only a small number of predetermined features and a genetic score for CAD.