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September 22, 2022

Clinical Practice Guidelines Recommend Genetic Testing of All Patients with Breast Cancer

 Invitae study reports universal genetic testing improves outcomes for patients with breast cancer – 

SAN FRANCISCO, Sept. 22, 2022 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, released a new study in JAMA Network Open, underscoring the clinical utility of the American Society of Breast Surgeons (ASBrS) guidelines recommending universal genetic testing for patients with breast cancer, and showing universal testing improves patient outcomes. Building on a previous study reported in the Journal of Clinical Oncology, the current study is the first clinical outcomes study of a cohort of unselected patients with breast cancer who underwent universal germline genetic testing. Our data show that genetic information aids patients and their physicians in implementing effective precision treatments and personalized management for their cancer. 

The data confirm the clinical utility of universal germline testing for all patients regardless of cancer type, age, stage or family history as cited in landmark studies published in JAMA Oncology and Clinical Gastroenterology and Hepatology by Invitae and Mayo Clinic

"This study and others clearly demonstrate the reason universal genetic testing for patients with breast cancer is the current standard of care in clinical practice," said Pat Whitworth, MD, lead author, breast surgical oncologist and director of the Nashville Breast Center. "It is essential for practices to systematically implement universal testing to improve patient care and outcomes. Even more important, this is the only way we find the family members who carry the gene and need prevention. Other guidelines miss half of these unaffected carriers."

In the study, clinicians were asked to assess changes to clinical management as a result of germline genetic testing results for 952 patients. Clinical recommendations were changed for 68% of patients who did not meet the criteria for testing according to previous non-universal guidelines, but were found to have pathogenic variants in cancer predisposition genes. For those with pathogenic variants that did fall within criteria according to previous guidelines, genetic testing impacted management with one or more changes to recommendations reported for 84% of patients. 

Clinicians considered testing beneficial for two-thirds of patients with pathogenic variants (e.g. gene-based therapy) and for one-third of patients with either negative results or variants of uncertain significance (e.g. de-escalation of surgical intervention).

ASBrS  recommended universal germline genetic testing has the potential to impact millions, as breast cancer is the most frequently diagnosed cancer in women, affecting >7 million worldwide with more than 2 million new cases expected to be diagnosed each year according to the American Cancer Society. Approximately 1 in 8 women (13%) will be diagnosed with invasive breast cancer in their lifetime and 1 in 39 women (3%) will die from breast cancer. Prior to the ASBrS guidelines, only about 25% of patients with breast cancer in the U.S. were getting genetic testing. 

"The medical community's understanding of genetics and cancer, and the underlying evidence, has evolved to make universal genetic testing the standard of care for breast cancer," said Peter Beitsch, MD, surgical oncologist, former president of the ASBrS and co-PI of the iGAP registry at Invitae. "This will not only benefit patients but also entire families – both male and female relatives – since pathogenic variants associated with breast cancer can lead to many different cancers including prostate cancer."

The ASBrS established guidelines recommending germline genetic testing for all patients currently or previously diagnosed with breast cancer in 2019 (Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons), catalyzed and supported by our studies in the Journal of Clinical Oncology and Cancers. "The sooner we systematically implement universal genetic testing for patients with breast cancer, the sooner we'll achieve President Biden's Cancer Moonshot 2.0 objectives of reducing cancer mortality and improving the lives of patients with cancer and their families," Ed Esplin, MD, PhD, FACMG, FACP, clinical geneticist at Invitae and senior author of the study.

Restrictive guidelines can lead to disparities in cancer care. Offering germline genetic testing to all cancer patients at diagnosis, consistent with the recent expert consensus in JCO Precision Oncology, may help reduce inequities in cancer care by expanding access for all patients to precision therapy or clinical treatment trials.

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 results of the company's study; the clinical utility of universal germline genetic testing for patients with breast cancer; the potential benefits of genetic information; the company's beliefs regarding the impact of implementing universal germline testing on reducing cancer mortality and improving patients' lives; and the company's belief that offering universal germline testing to cancer patients may help reduce inequities in cancer care. 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 June 30, 2022. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Renee Kelley  
(628) 213-3283

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