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FH Foundation, Invitae, Genome Medical Partner on Genetic Testing Initiative

NEW YORK (GenomeWeb) – The FH Foundation announced today the launch of the FIND HoFH (homozygous familial hypercholesterolemia) program to improve diagnosis for the condition by identifying people at risk.

HoFH is more severe than FH and can cause heart disease, heart attacks, and aortic valve disease in kids and adults. The disease impacts 1 in 300,000 Americans who inherit two mutations in FH genes. The disease can be diagnosed using clinical assessments and through genetic testing.

Individuals identified as needing HoFH evaluation will receive confirmatory genetic testing from Invitae and genetic counseling from the telegenetics firm Genome Medical.

Invitae's FH panel analyzes patients for mutations in APOB, LDLR, LDLRAP1, and PCSK9. While a negative test doesn't rule out HoFH, all those with HoFH have mutations in one of these genes. Individuals with the more common form of the condition, heterozygous FH, carry one copy of a disease-causing variant.

"FH is a treatable condition that is sadly underrecognized by the healthcare system," Genome Medical's Chief Medical Officer Steven Bleyl said in a statement. "With our nationwide telegenetics service, we see the opportunity to identify patients and educate both them and their personal physicians, hopefully leading to a ripple effect of greater awareness about this disease and improved health for patients."

Individuals will have the option to receive free genetic counseling and support for ordering and interpretation of genetic test results through Genome Medical's genetic navigation services.