Millions May Carry a Hidden Genetic Heart Risk, Study Warns
Synopsis
A Mayo Clinic study shows current guidelines miss most people with familial hypercholesterolemia, an inherited cause of high cholesterol. Broader DNA screening could uncover hidden risk early and help prevent serious heart disease.
A major Mayo Clinic study reveals that current testing guidelines overlook nearly 90% of people with familial hypercholesterolemia (FH) — a common inherited condition that quietly drives cholesterol to dangerous levels from birth. Many affected individuals had already developed early coronary artery disease before learning they carried the genetic risk.
DNA Screening Exposes the Hidden Threat
Researchers examined more than 84,000 participants through Mayo Clinic’s Tapestry DNA study and identified 419 people with FH-causing genetic variants. Nearly three-quarters would never have been recommended for genetic testing under current rules, which rely heavily on cholesterol readings and family history.
The study, published in Circulation: Genomic and Precision Medicine, shows that routine genome-based screening could dramatically improve early detection and prevent heart attacks and strokes before they occur.
A Genomics-Driven Path to Prevention
Experts say integrating genetic screening into everyday medical care could reshape cardiovascular prevention. Identifying risk early allows patients to receive treatment sooner — an approach central to Mayo Clinic’s Precure strategy, which aims to predict and prevent serious disease long before symptoms appear.