A new study from the Mayo Clinic shows that current genetic testing guidelines fail to identify most people with a serious inherited condition called familial hypercholesterolemia (FH), which causes extremely high cholesterol and increases the risk of early heart disease.
The condition can silently pass from generation to generation and often remains undiagnosed until it’s too late.
The study, published in the journal Circulation: Genomic and Precision Medicine, found that nearly 90% of people with FH would not have been recommended for standard genetic testing based on today’s guidelines. Many of them didn’t know they had the condition until a DNA research project uncovered it. About one in five already had signs of heart disease.
Familial hypercholesterolemia is one of the most common genetic disorders, affecting about one in every 200 to 250 people worldwide. It causes very high levels of LDL cholesterol—the “bad” kind—from birth. This puts people at a much greater risk for heart attacks and strokes at a young age.
In this study, researchers used a type of genetic testing called exome sequencing, which looks at the parts of the genome most likely to carry disease-causing mutations. They studied more than 84,000 people from Mayo Clinic campuses in Arizona, Florida, and Minnesota through a project called the Tapestry DNA research study.
The researchers found 419 people with genetic changes linked to FH. Shockingly, nearly 75% of them would not have qualified for testing based on their cholesterol levels or family history alone. This shows that many cases are being missed under current screening guidelines.
Dr. Niloy Jewel Samadder, the lead author of the study, says these findings reveal a major gap in how we currently detect people at risk for heart disease. “If we can find those at risk of cardiovascular disease early, we can treat it early and change its course—and likely save lives,” he said.
Dr. Samadder and his team say that it’s time to bring genetic screening into regular health check-ups. Doing so could help doctors identify high-risk patients earlier, giving them a chance to start treatment before heart disease develops.
This work is part of a larger Mayo Clinic effort called “Precure,” which aims to predict and prevent serious diseases before they get worse. By using the latest technologies and large-scale research studies, the goal is to bring prevention-focused care directly to patients sooner.
In summary, this study highlights the importance of genetic testing in preventing heart disease. Current methods based only on cholesterol levels and family history are not enough. Broader use of genetic screening could help find people with inherited high cholesterol much earlier—before serious damage is done.
If you care about heart health, please read studies about how eating eggs can help reduce heart disease risk, and herbal supplements could harm your heart rhythm.
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