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Familial hypercholesterolemia (FH) is a genetic condition which causes very high LDL cholesterol levels, and it is the most common genetic cause of early, life-threatening cardiovascular disease. The disorder affects more than 34 million people worldwide and an estimated 1.3 million people in the United States, but less than 10 percent of these are diagnosed.

The National Heart, Lung, and Blood institute of the National Institutes of Health has granted Geisinger researchers $2.8 million to improve the detection of and family screening for FH. The project will work closely with the FH Foundation, a patient-centered nonprofit that is dedicated to research, advocacy, and education about FH.

FH causes 20 percent of early heart attacks (before age 45). Significant reduction of LDL cholesterol beginning in childhood is key to successful risk reduction. Family screening, known as cascade screening, has been shown to improve diagnosis rates, but an effective method for this screening has not been successfully implemented in the US.

“Familial hypercholesterolemia is profoundly underdiagnosed in the US, leading to premature death in the absence of proper identification and subsequent treatment,” said Amy Sturm, MS, professor at Geisinger’s Genomic Medicine Institute, co-director of the MyCode Genomic Screening and Counseling Program, and one of the study’s principal investigators. “This study will focus on not only identifying FH, but also the development and design of innovative tools and programs to help individuals with FH encourage their at-risk family members to be screened for the disorder.”

The study, “Identification Methods, Patient Activation, and Cascade Testing for FH” (IMPACT-FH), aims to optimize FH identification methods, increase screening of at-risk relatives of individuals with FH, and determine how to implement needed changes in healthcare systems across the US. The study will also assist individuals with FH in communicating their diagnosis and genomic risk results to at-risk relatives to motivate them to undergo screening. Sam Gidding, M.D., of the FH Foundation is the other principal investigator on the study.

“You never find an individual with FH, you always find a family,” said Katherine Wilemon, founder and chief executive officer of the FH Foundation. “This study will help evaluate the best methods that individuals with FH can use to communicate their diagnosis results with their at-risk family members in order to motivate those family members to undergo family screening.”