Platform talk given at 2016 ACMG Annual Clinical Genetics Meeting
SAN FRANCISCO--(BUSINESS WIRE)--
Invitae
Corporation (NYSE:NVTA),
a genetic information company, today presented an important study at the
2016 American
College of Medical Genetics and Genomics (ACMG) Annual
Clinical Genetics Meeting, demonstrating that variant
classifications in BRCA1 and BRCA2 are highly concordant across major
clinical testing laboratories.
In 2015, The
New England Journal of Medicine published a report from the
ClinGen consortium describing efforts to gather clinically observed
genetic variants into a central public database called ClinVar. Today,
ClinVar contains more than 170,000 de-identified records submitted by
commercial and academic laboratories. Invitae is one of the top
submitters of BRCA1, BRCA2, and other genetic data to ClinVar. The
American Medical Association, the Institute
of Medicine, and the National
Institutes of Health all support the sharing of de-identified
genetic information in order to advance the goals of personalized and
precision medicine.
In collaboration with the University
of California, Santa Cruz (which serves as the data coordinating
center for the BRCA Challenge of the Global Alliance for Genomics and
Health), the study’s authors compared publicly available classifications
of variants in BRCA1 and BRCA2 across seven established clinical
laboratories. The authors estimate that this data set represents tests
of more than 20,000 representative patients, made public through
ClinVar. The study found a high concordance rate of 98.5% for
classifications of BRCA1 and BRCA2 variants across labs.
“Public release of de-identified genetic data is absolutely essential to
ensure interlaboratory quality control and to improve patient care,”
said Benedict Paten, PhD, director of the Center
for Big Data in Translational Genomics at the University
of California, Santa Cruz Genomics Institute, and co-leader of the
study.
“Invitae is proud to join other labs in providing our data to ClinVar in
the interests of furthering patient care across the community,” said
Robert Nussbaum, MD, chief medical officer of Invitae. “Without fully
transparent peer-review and unrestricted analysis of any lab’s data,
clinicians should have valid concerns about the lab’s results and any
unverifiable claims of accuracy they make. The high concordance observed
in this study underscores the fact that experienced and responsible lab
directors know how to evaluate and use publicly available information
regarding these genes appropriately, consistent with the most recent
guidelines from the American College of Medical Genetics and Genomics.”
Importantly, all of the discordant classifications the authors saw in
this study were in rare variants that, by definition, are present in
very few patients. Using population and clinical data, the authors
calculated the expected concordance on a per-patient basis to be 99.8%.
This replicates results from the 1,000-patient clinical study previously
published in the Journal
of Molecular Diagnostics from a collaboration among
Invitae, Massachusetts
General Hospital, Harvard
Medical School, and the Stanford
University School of Medicine.
“While our data shows that substantial disagreements in BRCA1 and BRCA2
are infrequent, they are important to patients and their clinicians. It
is essential that we as a community work to resolve these differences
collaboratively in order to deliver the best possible patient care,”
said Stephen Lincoln, lead author of the study at Invitae. “Data
submission to open and unrestricted databases like ClinVar now allows
these efforts on an unprecedented, global scale.”
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 effect of public release of
de-identified genetic data on interlaboratory quality control and
patient care; the ability of lab directors to appropriately evaluate and
use publicly available genetic information; and the ability of the
company to bring comprehensive genetic information into mainstream
medical practice to improve the quality of healthcare for billions of
people. 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, 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
most recent Annual Report on Form 10-K and its Quarterly Report on Form
10-Q for the quarter ended September 30, 2015. These forward-looking
statements speak only as of the date hereof, and Invitae Corporation
disclaims any obligation to update these forward-looking statements.
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Source: Invitae Corporation