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FH Foundation, Color Launch Familial Hypercholesterolemia Genetic Testing Study

NEW YORK (GenomeWeb) – The FH Foundation in partnership with Color has launched a research study that aims to understand the willingness of individuals with a clinical diagnosis of familial hypercholesterolemia and their family members to undergo confirmatory genetic testing.

The Patient Acceptance of Genetic Testing (PAGENT) study will offer individuals with FH enrolled in the FH Foundation's CASCADE FH Registry Patient Portal free access to Color's genetic testing and genetic counseling.

The FH Foundation introduced CASCADE FH in 2014 as a national, multicenter initiative to identify US FH patients, track their treatment, and follow clinical and patient-reported outcomes over time. The organization partnered with Color last year to launch its test for hereditary high cholesterol. Color's test detects inherited mutations in three genes — APOB, LDLR, and PCSK9 — known to cause the majority of FH cases and shown to increase a person's risk for coronary heart disease.

Genetic testing allows cascade screening of family members and could help identify many more individuals with FH to ensure early treatment to prevent heart disease, FH Foundation said.

"We are hopeful that genetic testing can accelerate cascade family screening to ensure more individuals with FH are identified so that treatment can begin earlier in life," Samuel Gidding, principal investigator for the PAGENT study and scientific advisory board member for the FH Foundation, said in a statement. "As we enter this new era of possibilities using precision medicine, we must understand perceptions surrounding genomic information."