Geisinger funding renewed for familial hypercholesterolemia research

DANVILLE, Pa. – Geisinger has been awarded $3 million from the National Heart, Lung and Blood Institute of the National Institutes of Health to continue its research on familial hypercholesterolemia (FH). The new funding will build on Geisinger’s ongoing work to improve communication with patients with FH and their family members and increase early screening and diagnosis.

FH is an inherited condition that causes high levels of low-density lipoprotein (LDL) cholesterol, often referred to as “bad cholesterol.” Left untreated, high levels of LDL cholesterol can lead to heart disease, heart attack or stroke. People with FH can significantly reduce their risk of these cardiac events if they are screened and begin lipid-lowering treatment early in life. Screening relatives of someone diagnosed with FH, known as cascade testing, can lead to earlier diagnosis and treatment and prevent disease.

With the original $2.8 million IMPACT-FH (Identification Methods, Patient Activation and Cascade Testing for FH) grant, awarded in 2019, the Geisinger research team developed new ways to communicate with patients about FH, including traditional letters and digital tools like chatbots. The team also developed a direct contact program, in which a genetic counselor reaches out to a patient’s relatives to inform them about their risk for FH and connect them to resources for testing and care.

In a trial of 175 people, 70% chose to use at least one of the redesigned communication strategies to reach at least one adult relative. These relatives were six times more likely to complete FH cascade testing than relatives who were not contacted through one of these strategies. When direct contact by a genetic counselor was chosen, relatives were 17 times more likely to complete testing. In all, 144 adult relatives of the trial group completed cascade testing with 48% having a positive result for FH. Forty-one children younger than 18 also completed cascade testing and 42% had a positive result for FH.

“The IMPACT-FH grant developed patient-centered strategies that improved FH cascade testing, enabling more individuals to learn about FH and pursue recommended care to potentially prevent heart disease, heart attack, and stroke,” said Gemme Campbell-Salome, Ph.D., assistant professor in Geisinger’s Department of Genomic Health and principal investigator for the IMPACT-FH study. “This new funding will build on our work to improve FH diagnosis by supporting family communication and screening in the primary care setting. Our long-term goal is to create a sustainable population screening program that can improve the health of people with FH.”

As part of this renewed funding, Geisinger will partner with experts in implementation science at the University of Sydney in Australia to explore strengths and challenges in FH screening programs in the United States and worldwide.

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About Geisinger College of Health Sciences

Geisinger College of Health Sciences is the research and education arm of the Geisinger family. Geisinger is committed to making better health easier for the more than 1 million people it serves. Geisinger is the inaugural member of Risant Health, a nonprofit dedicated to expanding and accelerating the adoption of value-based care. Founded more than 100 years ago by Abigail Geisinger, the system now includes 10 hospital campuses, a health plan with more than half a million members, and the College. The College houses a Research Institute, graduate medical education, and schools of medicine, nursing and graduate education, in addition to faculty and professional development programs. The College is committed to non-discrimination in all employment and educational opportunities. Visit geisinger.edu/gchs.