Doctors Say This Is the No. 1 Underrated Test for Predicting Heart Disease
Heart disease remains the leading cause of death globally, accounting for one in three deaths, yet many of its victims show no obvious warning signs before a life-threatening event. While traditional risk assessments—such as cholesterol levels, blood pressure, smoking status, and family history—have long been used to predict cardiovascular events, they often miss individuals at high genetic risk.
One powerful but underused tool that could change this is the polygenic risk score (PRS), cardiologist Eric Topol, MD, wrote in a guest column for the Washington Post earlier this week.
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What is the polygenic risk score?
Unlike monogenic risk assessments, which look for single gene variants that can cause disease, polygenic risk scores (PRS) aggregate the effects of thousands of genetic variants across the genome that contribute to the risk of a disease.
For heart disease, particularly coronary artery disease (CAD), researchers have identified multiple common genetic markers that individually have small effects but, when combined, can powerfully predict who is at higher genetic risk.
“You could have high or low risk for heart disease that is different from your familial pattern,” Topol wrote. “People with a high polygenic risk score benefit the most from medications to lower cholesterol, such as statins.”
The tests are already helping some doctors identify hard-to-detect genetic conditions that could silently put patients at risk. For instance, one U.K. study found that among patients who had a genetic variant known as familial hypercholesterolemia (FH), one in five would go on to develop coronary artery disease by the age of 70, compared with one in 20 in the general population.
This study and others found that assessing PRS and putting high-risk patients on statins greatly reduced their odds of experiencing a major adverse cardiovascular event.
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Can I get a PRS test?
Unfortunately, despite its predictive strength, PRS is rarely included in routine care. This is partly due to the novelty of the technology, concerns about accessibility, and the lack of awareness among both clinicians and patients.
However, incorporating PRS into early screening could shift the paradigm from reactive to preventive care. Besides affecting screening and medication use, identifying an elevated genetic risk early could also prompt the adoption of heart-healthy habits earlier in life.
According to the National Institutes of Health (NIH), 80 percent of heart disease cases are preventable, and many of these can be controlled using lifestyle interventions.
“Heart disease is the leading killer in the U.S., and the process does not start overnight,” Pradeep Natarajan, MD, MMSc, said while speaking with Harvard Medicine: The Magazine of Harvard Medical School. “Often it starts quite early, but our clinical tools recognize high-risk individuals too late, missing opportunities to prevent premature heart attacks.”
Those looking to lower their risk should plan on exercising regularly, following an anti-inflammatory diet, maintaining a healthy weight, monitoring blood pressure and blood sugar, quitting smoking, and getting plenty of high-quality sleep.
Receiving routine blood lipid panels, even if you have no symptoms of heart disease, can also help your doctor spot abnormalities.
As research continues to refine PRS and improve its accuracy and access, its role in clinical care is likely to expand. In the meantime, talking to your doctor about genetic testing through a commercial testing service could help you take a more proactive stance against heart disease.