SAN FRANCISCO, March 22, 2017 /PRNewswire/ -- Invitae
Corporation (NYSE: NVTA), one of the fastest growing genetic
information companies, today announced the availability of a new
genetic test for the diagnosis of Spinal Muscular Atrophy (SMA), a
neuromuscular disease that is one of the leading lethal genetic
disorders among infants as well as a significant cause of
progressive neuromuscular disease in childhood. The new test,
announced during the American College of Medical Genetics (ACMG)
Annual Clinical Genetics Meeting, features a novel, custom
methodology that offers significant improvements over current
testing approaches.
SMA is an autosomal recessive disorder and the second leading
genetic disease in infancy behind cystic fibrosis affects. SMA
affects approximately one in every 10,000 infants, while one in 50
people is a carrier for the disorder. The majority of SMA cases are
caused by loss of the gene SMN1, with variation in the
number of copies of related gene, SMN2, playing a role in
mitigating the severity of the disease. Loss of SMN1 results
in the absence of a protein necessary for the normal function of
nerves governing movement. Without adequate nerve function,
patients with SMA experience progressive muscle weakness and
atrophy, impacting the ability to crawl, sit, or stand and
eventually to breathe or swallow.
Accurate testing of both genes is critical for the diagnosis and
treatment of SMA. Testing for the absence of functional SMN1
is the basis of diagnosis and can distinguish the condition from
other neuromuscular diseases such as muscular dystrophy.
Understanding the number of copies of the SMN2 gene can
provide prognostic information and help guide therapeutic choices
and clinical trial participation. However, due to the similarities
between the two genes, testing is technically challenging and
reliably accurate tests have not previously been widely
available.
"Determining SMN2 copy number accurately has, in the
past, been a challenge. Improvement in the SMN2 copy number
assay will provide better diagnostic and prognostic information
about SMA patients that will guide clinicians with appropriate
disease management," said Perry
Shieh, MD, associate professor and director of the
neuromuscular program at the University of
California Los Angeles.
Invitae's unique approach leverages advanced next generation
sequencing and a customized bioinformatics solution to accurately
identify sequence changes and copy number changes in both genes
from a single test. Analysis of SMN1 and SMN2 is now
available from Invitae as a stand-alone test, and it has been added
to a number of the company's comprehensive neuromuscular and
neuropathy panels, allowing physicians the ability to test for SMA
alongside a number of other neurological disorders for no
additional cost.
"In addition to the use of the Invitae SMA test in the diagnosis
of infants and children with early onset neuromuscular disease, the
recent development of new therapies directed at SMA is leading to
the possible inclusion of SMN1 testing in universal newborn
screening panels, which will mean in turn that having an accurate,
cost-effective confirmatory test is essential," said Robert Nussbaum, MD, chief medical officer at
Invitae. "We're proud to bring this advancement in testing to the
SMA community."
Affordable, transparent pricing
The new SMA test will
be provided at the same pricing as all other Invitae tests. Invitae
offers a transparent pricing structure independent of the number of
genes required to provide an accurate diagnosis within a single
clinical area. Invitae has secured in-network status with the major
national health insurance payers. For third-party payers with whom
Invitae is out-of-network and for non-contracted institutions, the
price per test in a clinical area is $1,500. In addition, for patients without
insurance coverage or who do not meet insurance criteria for
coverage, Invitae offers its full test offerings for $475 per test
in a clinical area.
About Invitae
Invitae Corporation's (NYSE: NVTA)
mission is to bring comprehensive genetic information into
mainstream medical practice to improve the quality of healthcare
for billions of people. Invitae's goal is to aggregate most of the
world's genetic tests into a single service with higher quality,
faster turnaround time, and lower price than many single-gene and
panel tests today. The company currently provides a diagnostic
service comprising hundreds of genes for a variety of genetic
disorders associated with oncology, cardiology, neurology,
pediatrics, and other rare disease areas. Additionally, the company
has created a Genome Network to connect patients, clinicians,
advocacy organizations, researchers, and drug developers to
accelerate the understanding, diagnosis, and treatment of
hereditary disease. For more information, visit our website at
invitae.com.
Safe Harbor Statements
This press release contains
forward-looking statements within the meaning of the Private
Securities Litigation Reform Act of 1995, including statements
relating to the company's belief that its new genetic test for the
diagnosis of Spinal Muscular Atrophy (SMA) offers significant
improvements over current testing approaches, which will provide
better diagnostic and prognostic information about SMA patients
that will guide clinicians with appropriate disease management; and
that the new therapies directed at SMA is leading to the possible
inclusion of the testing of the gene SMN1 in universal
newborn screening panels, which in turn will mean that having an
accurate, cost-effective confirmatory test is essential.
Forward-looking statements are subject to risks and uncertainties
that could cause actual results to differ materially, and reported
results should not be considered as an indication of future
performance. These risks and uncertainties include, but are not
limited to: the company's history of losses; the company's
need to scale its infrastructure in advance of demand for its tests
and to increase demand for its tests; the company's ability to
develop and commercialize new tests and expand into new markets;
the risk that the company may not obtain or maintain sufficient
levels of reimbursement for its tests; risks associated with the
company's ability to use rapidly changing genetic data to interpret
test results accurately, consistently, and quickly; the company's
ability to compete; and the other risks set forth in the company's
filings with the Securities and Exchange Commission, including the
risks set forth in the company's Annual Report on Form 10-K for the
year ended December 31, 2016. These
forward-looking statements speak only as of the date hereof, and
Invitae Corporation disclaims any obligation to update these
forward-looking statements.
NOTE: Invitae and the Invitae logo are trademarks of Invitae
Corporation. All other trademarks and service marks are the
property of their respective owners.
Contact:
Laura D'Angelo
pr@invitae.com
314-920-0617
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SOURCE Invitae Corporation