Study Reveals How Expanded Genetic Screening Could Save Millions From Heart Risk

Researchers have found that the vast majority of individuals carrying an inherited risk for dangerously high cholesterol aren't identified by standard testing guidelines. Broadening access to genetic testing can help detect these hidden cases early, potentially preventing heart attacks and strokes. A recent study from Mayo Clinic reveals that standard protocols for genetic screening overlook most people with familial hypercholesterolemia (FH), which is a hereditary disorder that increases cholesterol levels from birth. The condition can eventually cause premature heart disease.

FH often goes undetected across generations, silently increasing the odds of life-threatening events. Treatments like statins, PCSK9 inhibitors, and lifestyle interventions can help lower the risks, but only if diagnosis happens in time. Undiagnosed carriers remain vulnerable, and this highlights the need for better detection tools.

In the United States, cardiovascular disease (CVDs) is one of the leading causes of deaths, claiming nearly 700,000 lives each year according to the Centers for Disease Control and Prevention. This takes into account coronary artery disease, heart failure, and stroke, with high low-density lipoprotein (LDL) cholesterol standing out as a primary culprit. FH amplifies this threat by causing LDL levels to increase, often exceeding 190 mg/dL in adults and even higher in children, leading to plaque buildup in arteries at a young age.

According to the World Health Organisation (WHO), 19.8 million people died from CVDs in 2022, which is 32% of all global deaths. It also states that of the 18 million premature deaths (under the age of 70) that happened due to noncommunicable diseases in 2021, 38% were caused by CVDs.

The study, published in the journal Circulation: Genomic and Precision Medicine, reveals that expanding routine screening can help detect most FH cases, reducing the incidence of severe cardiovascular events.

In the analysis, scientists found that almost 90% of study participants with FH would have been skipped by conventional genetic testing criteria. These individuals only discovered their condition through comprehensive DNA analysis in Mayo Clinic's population-based research program. Alarmingly, about one in five had already suffered coronary artery disease by the time of testing.

Niloy Jewel Samadder, M.D., the study's lead author and a Mayo Clinic gastroenterologist and cancer geneticist at the Mayo Clinic Comprehensive Cancer Center said, "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. If we can find those at risk of cardiovascular disease early, we can treat it early and change its course and likely save lives."

FH ranks among the most prevalent genetic conditions worldwide, affecting nearly 1 in 200 to 250 individuals regardless of ethnicity or geography. If untreated, it can lead to heart attacks in men by their 40s and women by their 50s-decades earlier than average.

For the study, the researchers conducted exome sequencing, which is a technique that scans the protein-coding regions of the genome-home to over 85% of known disease-causing variants. Mayo Clinic enrolled more than 84,000 participants from its Arizona, Florida, and Minnesota campuses via the Tapestry DNA initiative.

From this cohort, researchers identified 419 individuals harboring pathogenic FH variants. Nearly 75% wouldn't have qualified for testing under current guidelines. This gap reveals how relying solely on blood tests and anecdotes misses 'normocholesterolemic' FH carriers, those with moderately elevated LDL.

Dr. Samadder advocates shifting genetic screening from rarefied specialist settings to primary care, much like routine blood pressure or diabetes checks. Pairing it with electronic health records could automate risk alerts, prompting tests for at-risk patients.

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