Genetic testing should be offered for patients with family history of early heart disease and high cholesterol

DANVILLE, Pa. – High cholesterol can be the result of poor diet and exercise, but it can also be an inherited genetic disorder. In its genetic form, it is known as familial hypercholesterolemia (FH) and it’s an often-invisible killer. FH causes high low-density lipoprotein (LDL) cholesterol, sometimes referred to as ‘bad cholesterol,’ to accumulate from an early age.

It can begin to cause cardiovascular damage in children and, overall, individuals with FH have a six- to 20-times increased lifetime risk of heart disease.

Geisinger’s own studies from the MyCode Community Health Initiative have shown that FH is both underdiagnosed and undertreated in our own community. 

The FH Foundation convened an international expert panel that included Geisinger’s director of cardiovascular genomic counseling, Amy Sturm, M.S., CGC, which issued a new recommendation on testing for FH based on their review.

Ms. Sturm and the international panel of 30 cardiovascular, lipid, genetics and advocacy experts recommended that genetic testing be offered to diagnose individuals with FH, and importantly their first-degree relatives as well. Parents, children and siblings of an FH patient have a 50% chance of having the disease. FH genetic mutations lead to heart disease and stroke risk during the prime of life and affect an estimated 30 million people worldwide, 90% of whom are undiagnosed.

The consensus statement of the expert panel is that all patients with a family history of early heart disease and who have elevated LDL cholesterol should be offered genetic testing to see if they have FH, the inherited form of the disease. The full statement was published online July 30 in the Journal of the American College of Cardiology. 

As the nation’s only healthcare system conducting large-scale, genomic population health screening, Geisinger welcomes the recommendations today from the expert panel.

“Diagnosing and treating FH in childhood reduces the risk of early heart disease by about 80 percent, which is why it’s so important to find families with FH, and especially children who have this invisible, life-threatening genetic disorder,” said Sturm. “In addition, understanding the exact genetic mutation can better inform the initiation and treatment of FH with more intense lipid-lowering therapies and ultimately improve outcomes.”

David. H. Ledbetter, Ph.D., Geisinger executive vice president and chief scientific officer, was also a member of the expert panel and a co-author of the study. According to Ledbetter, “More than 100 Geisinger patients have already been identified with FH genomic variants as a result of the MyCode Genomic Screening and Counseling program and that number will rise as the program continues. Additionally, more will be found with the implementation of the clinical DNA sequencing program at Geisinger. The recommendation from this FH Foundation-sponsored expert panel is an important step forward in identifying and treating this disorder and making genetic testing a standard of care for this life-threatening illness.”

About Geisinger
Geisinger is among the nation’s leading providers of value-based care, serving 1.2 million people in urban and rural communities across Pennsylvania. Founded in 1915 by philanthropist Abigail Geisinger, the non-profit system generates $10 billion in annual revenues across 134 care sites - including 10 hospital campuses, and Geisinger Health Plan, with 600,000 members in commercial and government plans. The Geisinger College of Health Sciences educates more than 5,000 medical professionals annually and conducts more than 1,400 clinical research studies. With 26,000 employees, including 1,600 employed physicians, Geisinger is among Pennsylvania’s largest employers with an estimated economic impact of $14 billion to the state’s economy. On March 31, 2024, Geisinger became the first member of Risant Health, a new nonprofit charitable organization created to expand and accelerate value-based care across the country.  Learn more at geisinger.org or connect with us on Facebook, Instagram, LinkedIn and X.