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