According to the study, nearly 90% of people with this condition are overlooked by current guidelines, putting them at risk for heart attacks and strokes. Expanding routine DNA screening could help detect the condition early and prevent severe health outcomes.
Familial hypercholesterolemia is one of the most common genetic disorders worldwide, affecting roughly 1 in 200 to 250 individuals. This condition causes elevated levels of low-density lipoprotein (LDL) cholesterol, or “bad” cholesterol, from birth, increasing the likelihood of cardiovascular problems later in life.
However, many individuals with the disorder remain undiagnosed due to insufficient screening criteria based on cholesterol levels or family history. The Mayo Clinic study, published in Circulation: Genomic and Precision Medicine, points out that expanding genetic testing could help identify these high-risk individuals much earlier.
Genetic Testing Guidelines Fall Short
The study reveals a major flaw in current genetic testing guidelines, which primarily rely on cholesterol levels and family history to determine who should undergo genetic testing. According to the research, nearly 75% of individuals with familial hypercholesterolemia would not have met the existing guidelines for genetic testing, despite having high cholesterol levels.
Dr. Niloy Jewel Samadder, the study‘s lead author, emphasized that many of these individuals would have gone undetected without the additional DNA analysis conducted as part of the research program.
The study, which involved over 84,000 participants, across Mayo Clinic locations in Arizona, Florida, and Minnesota, found that many people with familial hypercholesterolemia had already developed coronary artery disease by the time they were diagnosed. Approximately 20% of participants had the condition but were unaware until they underwent genetic testing, underscoring the need for more comprehensive screening practices, reports Science Daily.
The Need for Routine DNA Screening
Researchers suggest that moving toward routine genetic screening for all individuals could dramatically increase early detection of familial hypercholesterolemia and help prevent severe cardiovascular events.
Dr. Samadder noted that by identifying high-risk individuals earlier, healthcare providers could start treatments sooner, potentially reducing the chances of heart attacks and strokes. “If we can find those at risk of cardiovascular disease early, we can treat it early and change its course and likely save lives,” Dr. Samadder stated.
Genetic screening could not only improve outcomes for individuals with familial hypercholesterolemia but could also contribute to the broader goal of genomics-driven healthcare. Expanding the use of genomics in everyday medical care could help address many undiagnosed conditions and allow for more personalized treatments tailored to genetic risk factors.
Familial Hypercholesterolemia and Its Global Impact
Familial hypercholesterolemia is a widespread genetic disorder that affects millions of people worldwide. The condition is inherited, meaning it can pass through generations silently, often unnoticed until individuals suffer from severe heart disease. According to the study, roughly 1 in 200 to 250 people globally are affected by familial hypercholesterolemia, though many may not know it. This genetic condition causes extremely high levels of LDL cholesterol in the blood from birth, which is a major risk factor for heart disease.
Despite the availability of effective treatments, such as cholesterol-lowering medications, many individuals with familial hypercholesterolemia go undiagnosed until they experience serious health complications, such as heart attacks or strokes. Early detection and treatment could significantly reduce these risks, making it crucial to update current screening practices and make genetic testing a routine part of healthcare.
By integrating DNA analysis into regular medical assessments, researchers believe healthcare providers could identify these individuals before symptoms develop, ultimately preventing serious heart conditions and improving public health outcomes.