Geisinger researchers awarded funding to study familial hypercholesterolemia

Geisinger researchers have been awarded two grants from the National Heart, Lung and Blood Institute, part of the National Institutes of Health, to study risk factors associated with familial hypercholesterolemia (FH) and ways to improve screening, diagnosis and communication with patients.

Familial hypercholesterolemia is a common genetic disorder that causes abnormally high cholesterol levels and affects about one in 250 people. Left untreated, FH can lead to vascular diseases such as coronary artery disease, heart attack, stroke and arterial disease. Early diagnosis and treatment can dramatically reduce the risk of arterial disease and improve health outcomes.

Matt Oetjens, PhD, assistant professor at Geisinger’s Autism and Developmental Medicine Institute, was awarded $3.7 million for a genetic investigation of FH and its intersection with health disparities related to age, sex, race/ethnicity and rural environment. His study will determine how to use genetics to assess risk, improve care and develop effective ways to communicate risk information to patients and providers.

“This study is an important step toward translating new genetic findings about the causes of FH into improved patient care,” Dr. Oetjens said.

Laney Jones, PharmD, and Samuel Gidding, MD, both with Geisinger’s Department of Genomic Health, were awarded $3.3 million to design and conduct a clinical trial to improve the diagnosis of FH in the primary care setting. The trial will assess the effectiveness of several strategies for improving FH diagnosis, including universal screening for specific age groups using diagnostic tools like lipid panels and genetic testing, initiating early treatment and studying patient health outcomes.

“An FH diagnosis is often made too late, many times after a premature heart attack,” Dr. Jones said. “Diagnosing FH in the primary care setting would optimize treatment for these people early in the course of the disease. Our long-term goal is to create an effective FH diagnosis program that is practical and sustainable in the real-world setting.”

As of February 2023, the team is implementing the trial over a two-and-a-half-year period in all Geisinger primary care sites.