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December 09, 2020

Invitae to Present New Data Supporting Genetic Testing for All Breast Cancer Patients at the 2020 San Antonio Breast Cancer Symposium

SAN FRANCISCO, Dec. 9, 2020 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced three studies demonstrating the benefits of genetic testing for all breast cancer patients, impacting treatment decisions and cancer screening for patients and their families. The studies, which will be presented at the 2020 San Antonio Breast Cancer Symposium (SABCS), add to the evidence supporting universal access to genetic information for all breast cancer patients.

"It's clear that current guidelines are too restrictive and, as a result, many patients with breast cancer whose care could be improved by access to precision medicine approaches are being missed. Universal testing for all patients with solid tumor cancer, including breast cancer, can help inform treatment and improve outcomes for patients," said Robert Nussbaum, M.D., chief medical officer of Invitae. "These data, taken together with many other studies that demonstrate the utility of universal testing for cancer patients, show the time has come to expand testing guidelines to ensure all breast cancer patients and their families can benefit from incorporating genetic information into their care."

In a prospective, multi-center study of breast cancer patients, one in eight patients had inherited genetic variants that could increase their risk of more aggressive disease and inform treatment choices. Despite the patients having inherited genetic variants, testing rates among patients' families remained low, even when cost was not a barrier. These findings in breast cancer patients were part of a landmark study across various solid tumor cancers recently published in JAMA Oncology.

Findings of a second study at the meeting underscore the impact germline testing can have on patient outcomes. In the longitudinal study, researchers evaluated the clinical outcomes of breast cancer patients who had undergone testing as part of a registry that included patients who met testing criteria and those who did not. Notably, 60% of patients who received targeted chemotherapy based on germline variants were in the group that did not meet testing criteria, highlighting the possibility that certain beneficial treatments and management changes could be inappropriately withheld from patients if restrictive criteria persist.

The third study at the meeting examined select international germline genetic testing criteria from Canada, Australia and the United Kingdom, and its impact on limiting access to testing in patients and their families who may benefit from this information. The study applied the international testing criteria to a cohort of previously tested U.S. breast cancer patients and found that more than 70% of patients with pathogenic variants would have been excluded using current guidelines to allocate germline testing. Furthermore, >80% of the pathogenic variants detected in these out-of-criteria patients were in genes with published management guidelines. This study demonstrates that current international guidelines for genetic testing are overly restrictive and miss actionable findings that could benefit breast cancer patients and their families.

Invitae presentations at 2020 SABCS:

Poster Session 8: Wednesday, December 9 at 8:00 a.m. CT

  • Pathogenic variants in hereditary cancer syndrome genes are prevalent among breast cancer patients not meeting various ex-U.S. genetic testing guidelines. Presented by Sarah Nielsen, MS, LCGC
  • Longitudinal clinical outcomes of a multi-center universal genetic testing registry. Presented by Peter Beitsch, MD

Spotlight Poster Discussion 10: Friday, December 11, 2020 at 1:00 p.m. CT

  • Universal genetic testing in breast cancer patients: A multi-center, prospective study. Presented by Brenda Ernst, MD

About Invitae
Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at

Safe Harbor Statement
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the implications of the studies to be presented at the symposium; the utility of universal access to genetic testing; the impact of germline testing on patient outcomes; the importance of expanding genetic testing guidelines; and the benefits of genetic testing and information. 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 company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; 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 use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; 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 September 30, 2020. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Laura D'Angelo
(628) 213-3283

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