NEW YORK — Geisinger said on Tuesday that it has been awarded a four-year grant worth $2.8 million from the National Heart, Lung, and Blood Institute to develop new methods for the identification and cascade testing of familial hypercholesterolemia (FH).
According to Danville, Pennsylvania-based Geisinger, its researchers will work with collaborators at the nonprofit FH Foundation to test FH patient identification methods, including two phenotypic algorithms that will be applied to participants in Geisinger's MyCode Community Health Initiative biobank of whole-exome sequence data. The investigators will also assess the ability to detect FH through exome sequencing using MyCode data.
Additionally, the investigators will evaluate ways to increase screening of at-risk relatives of individuals with FH, as well as study the feasibility, acceptability, and cost of these methods in healthcare systems.
"Familial hypercholesterolemia is profoundly underdiagnosed in the US, leading to premature death in the absence of proper identification and subsequent treatment," said Amy Sturm, a researcher at Geisinger's Genomic Medicine Institute 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."
Earlier this year, Geisinger researchers won a $3.1 million grant to develop genomic-based approaches for detecting arrhythmogenic right ventricular cardiomyopathy.