SAN FRANCISCO, Dec. 17, 2020 /PRNewswire/ -- Invitae (NYSE:
NVTA), a leading medical genetics company, today announced all
patients who undergo exome testing with Invitae will receive
routine case-level reanalysis of their findings every six months
for at least three years. Reanalysis ensures patients' reports will
be regularly updated based on new research about links between
variants in their genes and their health -- an essential step for
people grappling with difficult-to-diagnose health problems.
The expanded service will draw on Invitae's industry-leading
genetic variant interpretation capabilities, which include an
artificial intelligence (AI)-powered diagnosis engine and an
up-to-date gene-phenotype database, and is coupled with review by a
team of leading genetics experts. The combination provides
accurate, reproducible, and unbiased exome interpretation. With the
new reanalysis service, each patient's genetic findings will be
reanalyzed every six months so that any newly discovered and
clinically relevant information can be used to help aid in
diagnosis and guide proper disease management and treatment.
Invitae will be one of the only laboratories to make sequential,
case-level reanalysis standard for all patients who receive exome
sequencing. The American College of Medical Genetics and Genomics
(ACMG) considers ongoing reanalysis of sequence data to be
critical, as it can increase the number of patients receiving
information that is relevant to diagnosis or care by as much as 20
percent.
"Getting to an accurate molecular diagnosis as quickly as
possible means patients can begin to receive appropriate management
and therapy sooner, which is crucial, particularly in conditions
for which early intervention can improve outcomes or in conditions
with a significant recurrence risk to the parents of an affected
child. Unfortunately, many patients go years before they are
accurately diagnosed," said Robert
Nussbaum, M.D., chief medical officer of Invitae. "New
information on gene-disease relationships is discovered at a rapid
pace in this fast-moving field, and each additional piece of
information has the potential to benefit a patient. We want to
ensure our patients and their clinicians have continually updated
findings so we can help shorten the diagnostic odyssey for as many
patients as possible."
Invitae's AI-powered diagnosis engine prioritizes the most
relevant variants in a patient's exome based on next-generation
sequencing genotype data and against clinical features provided by
the patient. Variants are compared to a constantly updated database
of gene-disease relationships, which leverages natural language
processing and other technologies to continually and automatically
scan scientific literature to curate the latest information on
genetics and human diseases. The approach was built in part with
technologies obtained in March 2020
through the acquisition of Diploid, a privately held Belgian
company that developed Moon, AI software capable of diagnosing
genetic disorders in minutes based on next-generation sequencing
data and patient information.
The curated information provided by the automated systems fit
seamlessly within Invitae's validated and quantitative variant
classification system, which expands on ACMG/Association for
Molecular Pathology guidelines to ensure consistent and
reproducible evaluation of variant pathogenicity.
Learn more about Invitae's exome sequencing offering here. A
webinar, "Invitae exome interpretation: Leading with science and
innovation to bring exomes to scale," is scheduled for Tuesday, January 12, 2021 at 12:00 p.m. PT / 3:00 p.m.
ET. Register for the webinar here.
About Invitae
Invitae Corporation (NYSE: NVTA) is
a leading medical genetics company whose mission is to bring
comprehensive genetic information into mainstream medicine to
improve healthcare for billions of people. Invitae's goal is to
aggregate the world's genetic tests into a single service with
higher quality, faster turnaround time, and lower prices. For more
information, visit the company's website at invitae.com.
Safe Harbor Statement
This press release contains
forward-looking statements within the meaning of the Private
Securities Litigation Reform Act of 1995, including statements
relating to the benefits and capabilities of the company's exome
reanalysis service; and the benefits of updated genetic
information. 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
ability to compete; the company's failure to manage growth
effectively; 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 use rapidly changing genetic data
to interpret test results accurately and consistently; security
breaches, loss of data and other disruptions; laws and regulations
applicable to the company's business; 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 September 30, 2020. These forward-looking
statements speak only as of the date hereof, and Invitae
Corporation disclaims any obligation to update these
forward-looking statements.
Contact:
Laura D'Angelo
pr@invitae.com
(628) 213-3283
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SOURCE Invitae Corporation