A new genetic test can now estimate a person’s risk for eight major heart-related conditions with a single DNA analysis. This was developed by researchers at Mass General Brigham Heart and Vascular Institute. The tool uses a “polygenic risk score” (PRS) that combines information from hundreds of thousands of common genetic variants across the genome. This integrated report is designed to highlight hidden cardiovascular risk long before symptoms start to appear, which gives the opportunity for early intervention with lifestyle changes, or medication. The study was published in the the Journal of the American College of Cardiology (JACC).
For the study, the researchers used data from over 245,000 participants in the All of Us Research Program and 53,000 patients from the Mass General Brigham Biobank. The researchers found that people with high genetic risk scores had significantly higher odds of developing disease than those with average scores. For certain conditions, such as high lipoprotein(a) levels, people in the top 10% of genetic risk had more than a 40-times higher chance of having abnormal levels than those at average risk. Researchers say that 71% of the study population had at least one condition for which their genetic risk was three-fold or higher.
How Does One Test Predict So Many Risks?
The test focuses on eight conditions that are major contributors to heart disease and stroke: coronary artery disease, atrial fibrillation, type 2 diabetes, venous thromboembolism (blood clots in veins), thoracic aortic aneurysm, extreme hypertension, severe hypercholesterolemia, and elevated lipoprotein(a). Each of these has its own genetic risk, and the new tool merges these into a single polygenic risk score dashboard.
Unlike previous genetic tests that looked at one or a few rare “faulty” genes, PRS includes the small effect of many common DNA changes together. A person’s score is reported as a percentile compared with the general population. So, a “high genetic risk” usually means they sit in the top 10-20%. The more variants that push the risk upward, the higher the score, and the greater the chance that lifestyle or medical measures should be altered.
Pradeep Natarajan, MD, director of Preventive Cardiology at Mass General Brigham Heart and Vascular Institute and co-senior author, said, “Interpreting DNA risk is new for the public as well as clinicians. It was very important to us to provide a clear genetic risk report that would be accessible and patient friendly.”
Why Does Timing Matters?
The biggest advantage of this test is that it can find your risk years or even decades before any symptoms show up. Many of the eight conditions are silent until there’s an event such as a heart attack, stroke, or sudden blood clot. Hence, early identification could change the course of the disease. For example, someone detected with very high genetic risk for coronary artery disease might be told to keep blood pressure, cholesterol, and blood sugar controlled, start a heart-healthy diet, and consider low-dose aspirin or statin therapy.
Similarly, people with high genetic risk for venous thromboembolism or extreme hypertension can be monitored more closely, especially during situations that already increase the risk of clotting, such as surgery, long-haul flights, or pregnancy. For those with elevated lipoprotein(a) likelihood, doctors may ask for more aggressive cholesterol management and earlier imaging of the aorta if there’s a high risk of thoracic aneurysm as well. While the report does not replace standard checkups, it adds a layer of information that can improve prevention plans for each individual.
Aniruddh Patel, MD, a cardiologist and researcher with Mass General Brigham Heart and Vascular Institute who helped develop the tool and co-senior, said, “Most patients who are at increased genetic risk for serious heart conditions have no idea because their traditional risk factors appear relatively normal. Our goal is to provide clinicians and patients with actionable, understandable information about their genetic risk for common cardiovascular diseases. The tool already provides meaningful insight into cardiovascular risk, and we plan to continuously refine it as new genetic evidence emerges.”
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