SAN FRANCISCO – Invitae Corporation (NYSE: NVTA), a genetic information company, and collaborators announced the publication of data directly comparing traditional and multi-gene panel testing in more than 1,000 patients in The Journal of Molecular Diagnostics. The data, published online today, are from a collaboration among Invitae, Massachusetts General Hospital, Harvard Medical School, and the Stanford University School of Medicine. The Journal of Molecular Diagnostics is the official journal of the Association for Molecular Pathology, the society of professionals involved in molecular and genomic laboratory medicine.
The published data show that Invitae’s next generation DNA sequencing platform achieves high sensitivity and specificity compared to traditional genetic tests from other labs. The authors examined the analytic performance of Invitae’s methods on 29 cancer risk genes, concluding that Invitae was able to detect 100% of the comparable DNA alterations detected by traditional methodologies, without any false positives. Importantly, this set of alterations included a large number of copy-number deletions and duplications, as well as other complex sequence changes. These technically challenging types of alterations are not thoroughly examined in many laboratory validation studies even though they represent a significant fraction (13.5%) of the clinically relevant findings. While many laboratories have now implemented next-generation sequencing (NGS) platforms, Invitae has developed its own biochemical and bioinformatics processes to greatly improve comprehensiveness and accuracy over standard NGS methods.
“This collaborative study demonstrates that Invitae’s investment in advanced DNA sequencing methodologies and robust variant classification processes delivers high-quality results, directly comparable to the traditional tests that have been in clinical use for many years,” said Stephen Lincoln, leader of the study at Invitae. “The fact that this study goes well beyond a typical laboratory validation demonstrates our commitment to delivering the highest quality test results at an affordable cost.”
The authors also examined clinical interpretations of the patients’ BRCA1 and BRCA2 results and showed 99.8% agreement among potentially clinically actionable results, compared to blinded data from Myriad Genetics. The paper also shows a similar yield of findings in genes other than BRCA1 and BRCA2, as has been reported in other recent studies of comparable populations. The current Invitae test includes all 11 genes listed as having an established link to hereditary breast cancer risk in a recent New England Journal of Medicine review and includes all 13 genes for which interventions may be warranted under the current NCCN guidelines for breast and ovarian cancer management.
“Multi-gene panel testing represents a significant evolution in the field of clinical genetic testing for hereditary cancers,” said Dr. Robert Nussbaum, professor of medicine at University of California, San Francisco, chief of the Division of Genomic Medicine and incoming chief medical officer at Invitae. “This study shows that Invitae’s panel tests not only perform as well as the previous standard of care, BRCA1 and BRCA2 testing, but also uncover additional findings that can help to improve medical care for our patients.”
The study was co-led by Allison Kurian, M.D., M.Sc., assistant professor of medicine and of health research and policy at Stanford, James Ford, M.D., associate professor of medicine and genetics at Stanford and director of both the Stanford Program for Applied Cancer Genetics and the Cancer Genetics Clinic, and Leif Ellisen, M.D., Ph.D., program director at the Center for Breast Cancer, Massachusetts General Hospital Cancer Center, and professor of medicine at Harvard Medical School.
Invitae’s (NYSE: NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Currently focused on hereditary cancers, 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 prices than many single-gene tests today. The company currently provides a single diagnostic service comprising over 200 genes for a variety of genetic disorders associated primarily with cancer, but also covering cardiology, hematology, neurology, and pediatric genetics.
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 company’s commitment to delivering the highest quality test results at an affordable cost; its belief that multi-gene panels represent a significant evolution in clinical genetic testing; the ability of the company’s tests and studies to uncover additional findings that can help improve medical care; and the company’s ability to create processes that represent great improvements in comprehensiveness and accuracy compared to standard NGS methods.. 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 ability to leverage advances in the testing process and medical interpretation; the results of clinical studies; the applicability of clinical results to actual outcomes; 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; risks associated with the company’s ability to use rapidly changing genetic data to interpret test results accurately and consistently; the company’s ability to compete; laws and regulations applicable to the company’s business, including potential regulation by the Food and Drug Administration; 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, 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