Genetic risk score for heart disease in South Asia- experts develop a new breakthrough. MedGenome Labs, has conducted this first-ever study on Indian population that validates a novel ‘CAD-PRS’(coronary artery disease-genome-wide polygenic risk score).
MedGenome Labs, India’s leading genomics and clinical data-driven diagnostics and research company, 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 person’s genetic makeup.
MedGenome Labs 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, Coimbatoreand a few otherinstitutesto 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).
Study is based on the principle of Genome-wide Polygenic Risk Score (PRS):
This unique study is based on the principle of Genome-wide Polygenic Risk Score (PRS) which uses a genome-wideanalysis 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.
“CAD PRS is a powerful genetic predictor that can be used to identify individual’s at increased risk for CAD. It provides a quantified risk score based on one’s genetic makeup and predicts a patient’s risk for having an acute coronary event, such as a heart attack, before symptoms appear. CAD PRS is an important new risk factor to help physicians stratify high-risk patients and better guide treatment decisions and lifestyle interventions,”said Dr.Sekar Kathiresan, CEO, Verve Therapeutics and Professor of Medicine, Harvard Medical School, Cardiology Division, Massachusetts General Hospital.
“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). We firmly believe that incorporating validated genetic risk scores would help in better stratification of high-risk individuals if implemented at population level,”said Dr.Vedam Ramprasad, CEO, MedGenome Labs.
Cardiac disorders increased in urban population:
According to a research paper published in the Journal of Genetics, the estimated prevalence of CAD disease in India is about 10.5% of the population which extrapolates to a burden of about 32 million affected individuals. Over and above, the incidence of cardiac disorders has increased from 2% to 10.5% of the urban population1 in the past few years and early age of onset is a new countrywide trend. “South Asians no matter where they stay – in India or any other country always have higher cases of CAD than Caucasians. Even if our body structure is much leaner, smaller and thus comparatively lower food consumed compared to Caucasians, we still end up with CAD. So, it can be considered that South Asians have some genetic issue that is causing high CAD cases and hence we need to identify these genetic factors so that we are able to manage the disease in our population,” said Dr Ajit Mullasari, Director Adult Cardiology, Madras Medical Mission.
Also Read: WHY YOUNG INDIANS ARE AT AN INCREASED RISK OF HEART DISEASES?
Knowing 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. Such findings and methods developed can be used to screen large populations and high-risk individuals at a cost less than 5000 INR. The virtual press conference and announcement was also supported by several eminent cardiologists from across the country Dr. Ramesh Seshadri, Dr. Julius Punnen, Dr.Varun Shetty, Dr.Bagirath Raghuraman from Narayana Institute of Cardiac Science, Bangalore, Dr. Pradeep Narayan, RTIIS, Kolkata, Dr.Rajendra N.S, Narayana Hospital, Mysore and Dr.Rajeev Gupta, EHCC Jaipur.
What is Polygenic Risk Score?
Genetic research over the past decade has realized that our risk for many common conditions such as heart disease and diabetes are not influenced by just one gene, or even a handful of them. Instead, multiple genes work in tandem to influence our risk for diseases. Many small-effect genetic variations contribute to a person’s susceptibility to CAD. Polygenic Risk Score prediction quantifies the contributing effects into a score and estimates whether the tested individual is at a high and moderate risk of CAD.
Summary of the study findings:
1. A genome-wide polygenic score (GPS) for CAD integrates information from >6 million sites of common DNA variation into a single metric-available from birth – of inherited risk
2. Study validates a scalable polygenic score framework in India which is applicable to the South Asia ethnicity, laying the scientific and operational foundation for clinical implementation at an affordable cost
3. Results suggest feasibility for the transfer of polygenic scores across varying environmental exposures
High positive predictive value of ~90% (n= 1800, Control n= 1163)
About Medgenome Labs:
MedGenome is a genomics and clinical data driven diagnostics and drug discovery research company founded in 2013. With the state-of-the-art Next Generation Sequencing (NGS) facility, MedGenome is one of the highest throughput NGS sequencing & CAP accredited lab in South Asia. MedGenome offers comprehensive diagnostic solutions to researchers, doctors and hospitals and its belief in continuous innovation has led to the development of many new genetic tests. MedGenome’s clinical, phenotypic and genomics data, provide insights into complex diseases and aid in drug discovery. MedGenome, a founding member of Genome Asia 100K, initiated to sequence 100,000 Genomes in the Asian Population to create gene-pool data for higher research purposes.
References
1. Jayashree S., Arindam M. and Vijay K. V. 2015 Genetic epidemiology of coronary artery disease: an Asian Indian perspective. J. Genet. 94, 539–549
2. Mohan V, Deepa R, Rani SS, et al. Prevalence of coronary artery disease and its relationship to lipids in a selected population in South India: The Chennai Urban Population Study (CUPS No. 5). J Am CollCardiol 2001;38:682-7. 10.1016/S0735-1097(01)01415-2
3. Gupta, Rajeev. “Recent trends in coronary heart disease epidemiology in India.” Indian heart journal 60.2 Suppl B (2008): B4-18.
4. Enas, Enas A., and A. Senthilkumar. “Coronary Artery Disease in Asian Indians: An Update and Review.” (2001).
