If we can find early those at risk of cardiovascular disease, we can treat it promptly and alter its course, and probably save lives. Familial hypercholesterolemia is one of the most common genetic conditions and affects about 1 in every 200 to 250 people worldwide.
Need for routine genetic screening to detect familial hypercholesterolemia
The Tapestry population study demonstrates that 75% of carriers of genetic risk variants do not meet the traditional clinical criteria for DNA testing. Experts propose integrating genetic screening into primary care to detect hereditary high cholesterol early and prevent premature cardiovascular diseases.
«Our findings expose a blind spot in current national guidelines, which are based on cholesterol levels and family history to determine who should undergo genetic testing,» says Niloy Jewel Samadder, M.D., lead author and gastroenterologist at Mayo Clinic and cancer geneticist at the Mayo Clinic Comprehensive Cancer Center. This represents a missed opportunity for disease prevention.
Integration of genetics into preventive care
Dr. Samadder says the next step is to integrate genetic screening into routine care to identify high-risk patients earlier and start treatment as soon as possible. This work is part of Mayo Clinic's strategic priority Precure, whose goal is to predict and prevent serious diseases before they progress.
The study, published in Circulation: Genomic and Precision Medicine, suggests that routine screening could identify most people with the hereditary condition and ultimately save lives.
Study reveals overlooked diagnoses
Researchers discovered that nearly 90% of people with familial hypercholesterolemia would not have been identified for standard genetic testing and were unaware they had the condition until a DNA test in a Mayo Clinic population research study detected it. They found that nearly 75% of those individuals would not have met the current clinical criteria for undergoing genetic testing based on their cholesterol levels or family history.
Through innovative technologies and population studies, Precure is designed to bring prevention-focused care directly to patients as early as possible. Review the study for a complete list of authors, disclosures, and funding.
The research included more than 84,000 participants from Mayo Clinic locations in Arizona, Florida, and Minnesota as part of the Mayo Clinic's DNA research study Tapestry, part of the institution's effort to integrate genomics into daily patient care.
The research team identified 419 people with genetic variants known to cause familial hypercholesterolemia. It includes conditions such as coronary artery disease, heart failure, and stroke. It is highly treatable; however, people who remain undiagnosed have a higher risk of heart attacks and strokes. Cardiovascular disease remains the leading cause of death in the United States and affects millions of adults each year. It causes very high levels of low-density lipoprotein (LDL) — the "bad" cholesterol — from birth. The study analyzed data from exome sequencing, a type of genetic test that reads the regions of the genome that encode proteins — where most disease-causing variants are found.
