A new Mayo Clinic study reveals that nearly 90% of individuals with a genetic condition causing high cholesterol go undiagnosed, calling for routine genetic screening to prevent early heart disease.
A new study from the Mayo Clinic has uncovered a glaring gap in genetic screening guidelines, potentially jeopardizing the heart health of countless individuals. The research found that nearly 90% of people with familial hypercholesterolemia, a genetic condition leading to extremely high cholesterol levels and early heart disease, remain undiagnosed under current national protocols.
Familial hypercholesterolemia, one of the most common genetic disorders, affects an estimated 1 in 200 to 250 people globally, leading to elevated levels of low-density lipoprotein (LDL) cholesterol — widely known as “bad” cholesterol — from birth. Left undetected and untreated, these individuals are at a significantly higher risk for heart attacks and strokes.
Lead author Niloy Jewel Samadder, a Mayo Clinic gastroenterologist and cancer geneticist, emphasized the urgency of their findings.
“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,” Samadder said in a news release. “If we can find those at risk of cardiovascular disease early, we can treat it early and change its course and likely save lives.”
Cardiovascular disease remains the leading cause of death among adults in the United States, affecting millions annually. High cholesterol is a major risk factor. Yet, most individuals with familial hypercholesterolemia are not flagged by standard genetic testing criteria, underscoring the urgency for revised screening methods.
The study, published in the journal Circulation Genomic and Precision Medicine, analyzed exome sequencing data — reading the protein-coding regions of the genome where most disease-causing variants reside. Conducted through the Tapestry DNA research study, part of Mayo Clinic’s visionary plan to integrate genomics into routine patient care, the research included over 84,000 participants from Mayo Clinic sites in Arizona, Florida and Minnesota.
The research identified 419 individuals carrying genetic variants known to cause familial hypercholesterolemia. Alarmingly, nearly 75% of these individuals would not have been candidates for genetic testing based solely on their cholesterol levels or family history.
Samadder and his team advocate for integrating genetic screening into routine preventive care. This approach could identify high-risk patients much earlier, enabling timely intervention and potentially saving lives.
Source: Mayo Clinic