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.
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SOURCE The FH Foundation