Can genetic testing predict future overall risk of cardiovascular disease? Scientists have been working on something called a polygenic risk score (PRS) that looks at small genetic differences a person has inherited and assigns scores to them to determine whether a person might benefit from lifestyle changes, ongoing imaging or statin therapy.

Years of research has shown that along with risk factors such as obesity, diabetes or smoking, there is a genetic component to atherosclerotic disease that accelerates the buildup of plaque and cholesterol, which leads to heart attacks. Researchers believe that a test like the PRS that takes into account this genetic history is likely to better predict the future. Doctors currently determine the risk of heart attack by analyzing a person’s risk factors.

However, practicing cardiologists remain unconvinced of its use, especially as a broad screening mechanism. “Genetic history is important but if you have a good lifestyle – if you eat healthy, exercise regularly, don’t smoke – you will overcome this genetic predisposition,” says Dr. RRR Kasliwal, Head of Clinical and Preventive Cardiology at Medanta Hospital. , Gurugram. “If we talk about India, we see heart attacks at a very young age – almost 25 percent of all heart attacks occur in people under the age of 45. This means that plaque formation started at a very young age. Therefore, we have to To make sure that parents, even when they are children, ensure a healthy diet and exercise. Parents should not aspire to have chubby cheeks in children.”

For now, he feels the test may have limited use and help predict interventions in people who already have several risk factors. “The only feasible intervention, other than lifestyle changes, is prescribing statins. And when we talk about early prescriptions for statins, we are already doing that in India for young heart attacks. We prescribe statins even at the age of 35, if a person has many One of the risk factors is having a high calcium intake. Lifestyle changes in these people may not help prevent heart attacks in the near future,” he says.

Dr. Kaseliwal says his studies have shown that a CT scan of calcium is a very good predictor of heart attack. “If you do a test on a treadmill, for example, it will only detect blockage when it’s over 70 percent, but a CT calcium meter can show the real picture of plaque formation in the heart. And when it’s done in people at high risk, it can be It helps us determine a course of action.”

Dr VK Bahl, principal director of cardiac sciences at Max Hospitals, and former chief of cardiology at AIIMS-Delhi, agreed that testing has a limited role at the moment. “You have to show that the intervention is really helping us detect when we can make meaningful changes and reduce morbidity and mortality from disease. Now, suppose we have a way to detect early formation of plaques — what are you going to do with that information?” Several studies have shown that in people who They have asymptomatic plaques or even stable angina — chest pain on exertion — even a procedure like a stent doesn’t help reduce mortality.This is because someone might have a large plaque blocking 70 percent of a blood vessel and not have a heart attack while they might. Someone with a blockage of 10 percent. That’s because heart attacks happen when plaque becomes unstable and breaks down. So a prophylactic stent doesn’t help. Prescribing statins only helps – not only does it lower cholesterol levels, it also stabilizes plaques, and prevents them from collapsing.”

He adds the disclaimer that a stent when a person has a heart attack is completely lifesaving, and had no use before this point. According to him, statins can be prescribed even at a young age if a person meets any of the four criteria — they have type 2 diabetes, cholesterol levels over 190, and they have several risk factors such as obesity, family history, smoking, or They had a heart attack. There are patients at the border where additional markers such as calcium CT recording can be made to initiate intervention.


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