Researchers at Geisinger, the central Pennsylvania-based health system, received a $2.8 million grant to study the genetic causes of high cholesterol and, in time, improve detection and family screening for familial hypercholesterolemia, often referred to as FH.
People with FH have very high LDL cholesterol levels, and FH is the most common genetic cause of early, life-threatening cardiovascular disease. FH causes 20 percent of heart attacks before age 45, according to Geisinger. The disorder affects more than 34 million people worldwide and more than 1.3 million people in the United States, but less than 10 percent of these are diagnosed.
The grant from the National Heart, Lung, and Blood Institute of the National Institutes of Health, will allow Geisinger to work with the FH Foundation, a nonprofit organization dedicated to research, advocacy and education about FH.
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 U.S.
“Familial hypercholesterolemia is profoundly underdiagnosed in the U.S., leading to premature death in the absence of proper identification and subsequent treatment,” said Amy Sturm, professor at Geisinger’s Genomic Medicine Institute and 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.”
FH is one of more than 30 conditions screened for in MyCode, Geisinger’s genomic medicine project. Since 2007, more than 250,000 people have enrolled in the study, which allow patients to work with their care providers to prevent or detect disease in its early stages, leading to better health outcomes.