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April 14, 2014

Invitae’s Multi-Gene Panels Can Provide Clinical Benefit to Patients Seeking Hereditary Cancer Risk Assessment

Data published in Journal of Clinical Oncology from research collaboration with Stanford University --

SAN FRANCISCO, April 14, 2014 – Invitae Corporation, a genetic information company, today announced the publication of initial data from its research collaboration with Stanford University in the Journal of Clinical Oncology, published online on April 14. The study demonstrates that multi-gene hereditary cancer panels can offer comparable performance to traditional BRCA1/2 genetic testing and can provide additional clinical benefit to doctors and patients seeking cancer risk assessment.

Titled, “Clinical Evaluation of a Multiple-Gene Sequencing Panel,” the first author of the manuscript is Allison W. Kurian, MD, MSc, assistant professor of medicine and of health research and policy at Stanford, and the senior author is James Ford, M.D., associate professor of medicine (oncology), pediatrics (medical genetics) and of genetics and director of the Stanford Cancer Genetics Clinic.

The study’s authors utilized a panel of 42 cancer risk genes selected for clinical and research relevance that were tested by Invitae on germline DNA from 198 individuals who had been referred for Hereditary Breast and Ovarian Cancer testing to the Stanford University Medical Center.

The study found that BRCA1/2 results from Invitae’s panel were highly concordant with previous clinical BRCA1/2 test results on these individuals.  In addition, approximately 9% of the BRCA1/2 negative patients were found to carry one or more potentially actionable variants in other cancer risk genes.

“This initial study demonstrates the utility of a multi-gene approach to hereditary cancer testing, which can provide robust performance and additional clinically important information by comparison with traditional BRCA1/2 testing,” said Dr. Eitan Friedman, director of the oncogenetics unit at the Sheba Medical Center in Tel-Aviv, Israel. “We believe that increasingly comprehensive hereditary cancer genetic testing will clearly emerge as a common clinical tool to improve care and outcomes for cancer patients, their families and other at-risk individuals.”

Of the 198 women who participated in this study, 174 had breast cancer and 57 carried pathogenic germline variants in BRCA1/2.  Among the 141 BRCA-negative women, Invitae’s panel identified additional risk variants in the MLH1, CDH1, NBN, ATM, MUTYH, SLX4, BLM and PRSS1 genes.  Stanford’s clinical staff determined that 14 participants warranted re-contact and additional counseling based on this new information, and personalized recommendations for additional screening and other potential changes in care were provided as appropriate.  The Stanford team found that this counseling was both feasible and was appreciated by the patients.

Following this successful research study, Invitae has developed a commercial test for hereditary cancer in its CLIA certified genetic testing laboratory focusing on 29 of the most clinically relevant cancer risk genes. In a larger, ongoing study of about 1,000 patients, Invitae has observed similar accuracy and diagnostic yield from its commercial test. Moreover, while the research study reported an average of 2.1 Variants of Unknown Significance (VUS) per patient across the complete panel, the commercial 29-gene test reduces that rate to about 0.7 VUS per patient and about 40% of patients receive an uncertain test result in any of these 29 genes because some patients carry more than one VUS. In BRCA1/2 alone, about 6% of tests result in an uncertain result. Invitae is committed to public release of de-identified genetic variants, including data from these studies, to help the global medical and research communities rapidly improve understanding of the role of these genetic variants in human health and thus to further reduce uncertainty rates.

“Increasingly, published data show that comprehensive and broadly accessible genetic information will be a critical component of the future practice of personalized medicine,” said Randy Scott, PhD, co-founder of Invitae. “In order to realize this transformation, it is critical that the clinical community openly share and collaborate around anonymized patient genetic data. We have started to do this through Clinvar, Clinvitae and the Free the Data! movement, and we encourage other clinical labs to join us.”

Invitae’s Current Hereditary Cancer Panels

Invitae offers BRCA1 and BRCA2 testing globally, in addition to hereditary cancer panels, providing clinicians with reliable, fast and affordable options for their cancer patients.  The tests include full gene sequencing for both BRCA1 and BRCA2, as well as deletion/duplication analysis.  All Invitae tests, including the multi-gene panels, are available with a turnaround time of just 2-3 weeks and are priced at $1,500 in the United States.

Additionally, Invitae enables the ordering clinician to look beyond BRCA to understand additional risk factors for hereditary cancer by offering the opportunity to upgrade to larger hereditary cancer panels at no additional cost and with the same turnaround time (2-3 weeks). The BRCA genes were the first to be associated with hereditary breast and ovarian cancer; however, there are several other genes that contribute significantly to the risk of breast cancer that may be part of a patient’s clinical story. Additional panels include the following:

  • Women’s high risk breast cancer panel (6 genes)
  • Women’s hereditary cancer panel (18 genes associated with hereditary breast, ovarian and endometrial cancer)
  • Hereditary cancer syndromes panel (29 genes)
  • Additional hereditary cancer panels are available, including testing for Lynch Syndrome and colon cancers.

About Invitae Corporation

Invitae hopes to lead the way from an era of genetic scarcity to genetic abundance to significantly improve healthcare worldwide. The company’s mission is to bring comprehensive genetic information into routine medical practice to improve the quality of healthcare for billions of people. Invitae specializes in genetic diagnostics for hereditary disorders. The company is aggregating the world’s genetic tests (>3,000 known Mendelian inherited conditions) into a single service with better quality, faster turnaround time, and a lower price than most single-gene diagnostic tests today. Invitae has raised $87 million from investors, including Thomas McNerney PartnersCasdin CapitalGenesys CapitalGenomic Health, Inc. (NASDAQ: GHDX), and Redmile Group. For further information, please visit



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