FH Foundation Expands FIND FH® to Speed Diagnosis of Individuals with Homozygous Familial Hypercholesterolemia

Posted by The FH Foundation

Posted April 11, 2019

Confirmatory FH Genetic Testing and Counseling Offered through Invitae and Genome Medical 

PASADENA, Calif., April 11, 2019 /PRNewswire/ -- Today, the FH Foundation announced the launch of the FIND HoFH program to identify individuals at risk for homozygous familial hypercholesterolemia (HoFH). The goal is to accelerate the diagnosis of this life-threatening condition. HoFH is a more severe form of familial hypercholesterolemia (FH), that can lead to heart disease, heart attacks and aortic valve disease in children and young adults. Individuals identified through the program will have the option to receive genetic counseling and confirmatory genetic testing through a collaboration with Invitae (NYSE: NVTA) and Genome Medical at no charge.

FIND HoFH is built on the success of the FH Foundation's FIND (FLAG, IDENTIFY, NETWORK, DELIVER) FH® initiative, established in 2013, which is being successfully implemented in multiple national health systems to identify individuals with FH. FIND FH leverages machine learning and big data by analyzing national healthcare encounter and lab data to identify individuals who should be evaluated by clinicians for FH diagnosis.

"It's unacceptable that children and young adults at such extreme high-risk for heart disease in childhood and youth are falling through the cracks of our healthcare system today, when there is so much we can do to help them," said Katherine Wilemon, Founder and CEO of the FH Foundation. "Our vision is to leverage technological innovation like our FIND FH program along with collaborating with forward-thinking companies and leading healthcare systems to identify and help people before they suffer from the consequences of this devastating condition."

HoFH impacts one in 300,000 Americans and occurs when two FH gene mutations are inherited, one from each parent. When a person with HoFH is not treated with medications, the low-density lipoprotein cholesterol (LDL-C, "bad cholesterol") level is typically between 400-1000 mg/dL-- over four-times the normal level. HoFH can be diagnosed clinically and through genetic testing.

Invitae's familial hypercholesterolemia panel analyzes the primary genes for FH: APOB, LDLR, LDLRAP1 and PCSK9. All those with HoFH are expected to have a positive genetic test. Approximately 60-80 percent of individuals with the more common heterozygous FH are expected to have a disease-causing variant identified in one of the genes on this panel. A negative genetic test result does not rule out the possibility that an individual may have FH.

"Genetic testing for HoFH can make a big difference for young people, who may be facing serious cardiovascular risks that might otherwise be missed due to their age. The FIND HoFH program is an excellent example of combining technology and public health techniques to better identify young people who are at risk," said Robert Nussbaum, MD, chief medical officer of Invitae. "We're pleased to be partnering with the FH Foundation to ensure that individuals identified as potentially at-risk of this condition can get faster access to comprehensive, high-quality genetic testing that can help their clinicians get them the care they need. Furthermore, with our no-charge family variant testing, their relatives, some of whom may be carrying one copy of a deleterious FH gene and are at significant increased risk for coronary artery disease, can also be identified and referred for appropriate treatment to prevent serious disease."

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.

"Genome Medical is excited to have the opportunity to work with the FH Foundation and Invitae to support the identification of patients with HoFH," said Steven Bleyl, MD, PhD, Genome Medical's chief medical officer. "FH is a treatable condition that is sadly under recognized by the health care system. 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."

More resources on HoFH can be found at www.theFHFoundation.org/HoFH and on the FH Foundation's Homozygous FH Facebook discussion group.

About the FH Foundation

The FH Foundation is a leading research and advocacy non-profit organization focused on reducing heart disease by driving scientific understanding and evidence-based care of FH. The mission of The FH Foundation is to save lives by contributing to scientific research that leads to greater understanding and improved diagnosis and treatment of familial hypercholesterolemia worldwide. Please visit www.TheFHFoundation.org for more information.

SOURCE The FH Foundation

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Topics: News and Announcements, genetic-counseling, genetic-testing, cardio-genetics, pr-announcements, pediatric-genetics

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