New research reveals that standard screening misses most people with a common inherited cholesterol disorder.
A Mayo Clinic study reports that current genetic screening guidelines overlook most people who have familial hypercholesterolemia, an inherited disorder that can lead to dangerously high cholesterol and early heart disease.
This condition can move quietly through families for many years. Although effective treatments exist, those who are not diagnosed face a higher chance of heart attacks and strokes.
Cardiovascular disease continues to be the leading cause of death in the United States and affects millions of adults annually. It includes coronary artery disease, heart failure, and stroke, and high cholesterol is one of its major risk factors.
According to the study, published in Circulation: Genomic and Precision Medicine, broader and more routine screening could help identify most individuals with this inherited disorder and may ultimately prevent severe health outcomes.
Study reveals missed diagnoses
The researchers discovered that nearly 90% of people with familial hypercholesterolemia would not have been selected for standard genetic testing and did not know they carried the condition until DNA testing in a Mayo Clinic population-based study detected it. Approximately 1 in 5 had already developed coronary artery disease.
"Our findings expose a blind spot in current national guidelines, which rely on cholesterol levels and family history to determine who should receive genetic testing," says Niloy Jewel Samadder, M.D., lead author and a Mayo Clinic gastroenterologist and cancer geneticist at the Mayo Clinic Comprehensive Cancer Center. "If we can find those at risk of cardiovascular disease early, we can treat it early and change its course and likely save lives."
Familial hypercholesterolemia is one of the most common genetic conditions, affecting an estimated 1 in 200 to 250 people worldwide. It causes very high levels of low-density lipoprotein (LDL) cholesterol — the "bad" cholesterol — from birth.
The study analyzed data from exome sequencing, a form of genetic testing that reads the protein-coding regions of the genome — where most disease-causing variants are found. The research included more than 84,000 participants across Mayo Clinic sites in Arizona, Florida, and Minnesota through the Tapestry DNA research study, part of the institution's effort to integrate genomics into everyday patient care.
The research team identified 419 people with genetic variants known to cause familial hypercholesterolemia. They found that nearly 75% of those individuals would not have met current clinical criteria for genetic testing based on their cholesterol levels or family history. This represents a missed opportunity for disease prevention.
Integrating genetics into preventive care
Dr. Samadder says the next step is to bring genetic screening into routine care to identify high-risk patients earlier and start treatment sooner.
Reference: "Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare System" by N. Jewel Samadder, Mariah Schroeder, Molly M. Voss, Fadi Shamoun, Iftikhar Kullo, Timothy B. Curry, Elisa J.F. Houwink, Michelle L. Bublitz, Lorelei A. Bandel, Sebastian M. Armasu, Robert A. Vierkant, Matthew J. Ferber, Rory Olson, Jennifer Tan-Arroyo, Joel A. Morales-Rosado, Eric W. Klee, Nicholas B. Larson, Teresa M. Kruisselbrink, Jan B. Egan, Jennifer L. Kemppainen, Jessa S. Bidwell, Jennifer L. Anderson, Tammy M. McAllister, Linnea M. Baudhuin, Katie L. Kunze, Michael A. Golafshar, Richard J. Presutti, Jolene M. Summer-Bolster and Konstantinos N. Lazaridis, 12 November 2025, Circulation: Genomic and Precision Medicine.
DOI: 10.1161/CIRCGEN.125.005174
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