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
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).
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.
Source: Invitae Corporation