Experts develop a breakthrough genetic risk score for Heart Disease in South Asia – ETHealthworld.com

Posted: Published on August 12th, 2020

This post was added by Alex Diaz-Granados

Bengaluru: MedGenome Lab has conducted a first-ever study on Indian population that validates a novel CAD-PRS (coronary artery disease-genome-wide polygenic risk score) to precisely predict the risk of developing a coronary artery disease/myocardial infarction (MI) using a persons genetic makeup.

MedGenome collaborated with researchers from Broad Institute of MIT and Harvard; Massachusetts General Hospital, Boston; Narayana Health, Bangalore; Eternal Hospital, Jaipur; Madras Medical Mission, Chennai; KMCH, Coimbatore and a few other institutes to conduct this first-ever research capturing the PRS of disease for South Asia populations and its findings are now published in the Journal of the American College of Cardiology (JACC).

Dr. Vedam Ramprasad, CEO, MedGenome Labs said Looking at all the available scientific evidence and our study results we are convinced that there exists a good opportunity to combine both clinical and genetic risks (polygenic risk score based) and significantly improve the primary prevention of coronary artery disease (CAD)."

The unique study is based on the principle of Genome-wide Polygenic Risk Score (PRS) which uses a genome-wide analysis of an individual to quantify the risk of developing heart disease.

It was conducted on the south Asian population in 1800 confirmed CAD cases and 1163 control samples from five centres across the country with a median age between 54 and 55 years.

The findings of this study have helped develop a CAD PRS that integrates information from millions of sites of common DNA variation into a single metric that can be calculated from birth and validate a scalable polygenic score framework in India.

This finding lays the scientific and operational foundation for clinical implementation not just for CAD but for other diseases. Such findings and methods developed can be used to screen large populations and high-risk individuals at a cost less than 5000 INR.

Knowingly, the polygenic risk is important to individuals with a family history of CAD, hypertension, diabetes, high cholesterol level, smoking habits, alcohol consumption, stressful lifestyle, as CAD results from a combination of these factors. A poor lifestyle and high polygenic risk could be a fatal combination and may result in early-onset CAD.

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Experts develop a breakthrough genetic risk score for Heart Disease in South Asia - ETHealthworld.com

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