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.

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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.