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.”
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.