-- Contribution helps ensure genetic information is widely and freely
available for peer-review in order to establish a new “gold standard”
and to help clinical researchers improve healthcare --
-- Brings the company’s total contribution to more than 22,000
variants submitted --
SAN FRANCISCO--(BUSINESS WIRE)--
Invitae
Corporation (NYSE:
NVTA), a genetic information company, today announced that the
company has submitted information on more than 10,000 clinically
observed genetic variants to the ClinVar
project, an effort by the National
Center for Biotechnology Information (NCBI) to aggregate all of the
world’s known relationships between genetic variants and disease,
bringing our total submissions to more than 22,000. ClinVar is a freely
available archive of submissions from across the world of variants and
their interpretations by the lab that observed them.
“We believe that genetic information is more valuable when shared and
that submitting clinical variants to ClinVar is rapidly becoming the new
gold standard for clinical medicine. By freely contributing information
on genetic variants found in our clinical testing and the underlying
reasoning behind how these variants are interpreted, we can help
increase the quality and utility of genetic data available to the
research and clinical communities as a whole,” said Robert Nussbaum, MD,
chief medical officer of Invitae. “By sharing de-identified variants
with public databases, we will help to set the appropriate gold standard
of expert consensus, open peer-review, and detailed inter-laboratory
quality control. We believe the only responsible medical practice is to
share de-identified data to improve overall genomic healthcare.”
In just over a year, Invitae dramatically expanded the number of
observed variants submitted to ClinVar. As of May 2015, Invitae had
submitted more than 1,200 clinically observed variants and
interpretations. Invitae has now increased that number to more than
22,000 variants.
“We want clinicians and researchers to be able to compare variants
across multiple platforms and fully utilize the available data through
unified resources,” said Yuya Kobayashi, PhD, scientist at Invitae.
“Through robust support of data sharing databases, Invitae hopes to
advance collective knowledge of genetics and improve healthcare for
everyone.”
ClinVar has catalyzed efforts across laboratories to better understand
gene-disease associations, continually improve reporting guidelines, and
collaborate in cross-laboratory quality control programs. These efforts
will contribute to improving healthcare for all patients.
Invitae is also a strong supporter of several patient registries,
including the Free
the Data initiative, Prospective
Registry of Multiplex Testing (PROMPT), GenomeConnect,
Inherited
Cancer Registry (ICARE), and the
ABOUT Network, which is affiliated with the patient advocacy group Facing
Our Risk of Cancer Empowered (FORCE).
“Sharing genetic information with the medical community is hugely
important to patients,” said Sue Friedman, founder, executive director,
and patient advocate at FORCE. “If those data are freely accessible to
researchers and clinicians, the medical community can use them to
advance the understanding of genetics in health and disease and
hopefully save lives.”
High quality testing with affordable, transparent pricing
Invitae achieved its mid-year goal of more than 1,000 genes in
production, releasing new content in March with hundreds of additional
genes and expanded panels for neurology, pediatrics, and rare diseases,
and introducing an entirely new clinical testing area designed to
complement newborn screening for metabolic and immunological conditions.
Invitae offers a transparent pricing structure independent of the number
of genes required to provide an accurate diagnosis for any specific
clinical indication. For payers and institutions that are in contract
with Invitae, the price per indication can be as low as $950, depending
on the payer’s requirements. For third-party payers with whom Invitae is
out-of-network and for non-contracted institutions, the price per
indication is $1,500. In addition, for patients without third-party
insurance coverage or who do not meet insurance criteria for coverage,
Invitae offers its full test menu for $475 per clinical area (see website
for more details).
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. 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 belief that the sharing of
de-identified genetic information with public databases will improve
expert consensus, open peer-review, and detailed inter-laboratory
quality control, as well as overall genomic healthcare. 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: risks associated with the
company’s ability to use rapidly changing genetic data to interpret test
results accurately and consistently; laws and regulations applicable to
the company’s business, including privacy laws, state licensing
requirements and potential regulation by the Food and Drug
Administration; 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; 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 Quarterly Report on Form 10-Q for the quarter
ended March 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.

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Source: Invitae Corporation