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September 15, 2022

Leading Clinical Experts Across the U.S. Unite to Support Universal Genetic Testing for all Patients with Cancer

Clinicians agree that evidence supports testing benefits for all – 

SAN FRANCISCO, Sept. 15, 2022 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, joined other clinical experts in releasing a new commentary in Journal of Clinical Oncology Precision Oncology, underscoring the importance of universal germline testing for all patients with cancer (solid tumors). The paper reports a meta-analysis of multiple clinical publications supporting universal testing, independent of age, stage, family history or type of cancer. It reports that for cancer types such as pancreatic and ovarian where universal genetic testing is already recommended, 13% and 20% of patients (respectively) have identifiable actionable heritable gene mutations,2. In comparison, the actionable inherited gene mutation rate for patients with other cancer types is similar: breast 11%, endometrial 13%, prostate 14%, kidney 13%, bladder 14%, testicular 13%, colorectal 13%, liver 14%, and stomach 14%.

Furthermore, it reports that between 5-13% of patients with cancer with heritable gene mutations are missed by current restrictive testing guidelines and are unable to benefit from associated precision treatment and clinical trial benefits. First, allowing all patients to receive germline testing, without restrictive guidelines, affords patients access to precision therapies, clinical trials and other risk reducing interventions that can improve outcomes, and even extend overall patient survival1. Second, genetic testing informs surveillance and risk reduction for future cancers in patients already affected by cancer. Third, cascade testing helps alert their family members of an increased risk for cancer, so they too can then take advantage of monitoring and risk reducing interventions. Consistent with the Cancer Moonshot 2.0 and the President's Cancer Panel report 2022, the expert consensus concludes that current evidence supports the implementation of universal germline genetic testing for all patients with cancer (solid tumors).

"This consensus from nationally recognized, cancer genetics clinical experts reinforces the current guidelines that universal genetic testing be offered in all patients with ovarian and pancreatic cancer and either be offered or considered in all patients with colorectal," said Ed Esplin, MD, PhD, FACMG, FACP, clinical geneticist at Invitae. "More importantly, this is a call to all guidelines committees, insurer medical policy makers and the President's Cancer Moonshot Cabinet to make universal genetic testing available to potentially reduce mortality and improve the lives of all patients with cancer." 

The collaborative commentary included experts from the Carolina Urologic Research Center, City of Hope, Dana-Farber Cancer Institute, Mayo Clinic and Invitae

"The PROCLAIM study demonstrates the clinical utility of universal germline genetic testing in patients with prostate cancer. Current NCCN guidelines preclude some prostate cancer patients from receiving germline testing, thus depriving these patients of the potential to receive precision-based therapies and specific clinical trial eligibility, while perpetuating healthcare disparities among historically underrepresented populations. The PROCLAIM data supports universal genetic testing for prostate cancer patients. We should expeditiously eliminate barriers to gene-based precision therapies to optimize patient outcomes and accelerate equitable access to care," said Neal Shore, MD, urologist and medical director, Carolina Urologic Research Center.

Cancer is a leading cause of death worldwide, accounting for nearly 10 million deaths in 2020. 

Worldwide, there were an estimated 18.1 million new cases of cancer in 2018, with one in four men and one in five women developing the disease. In addition, there were 43.8 million persons living with cancer in 2018 who were diagnosed within the last five years.

"The INTERCEPT study has shown the prevalence and clinical utility of germline genetic testing is virtually the same across 14 cancer types, even those cancers not traditionally considered hereditary. This data supports universal genetic testing not only for colorectal cancer, but patients with all cancer types, to potentially improve their treatment and future cancer prevention for them and their family members," said Jewel Samadder, MD, enterprise co-leader precision/individualized cancer medicine, Mayo Clinic Comprehensive Cancer Center.

Restrictive guidelines can lead to disparities in cancer care. Offering germline genetic testing to all patients with cancer at diagnosis may help reduce inequities in cancer care by expanding access for all patients to precision therapy or clinical treatment trials.

"The prevalence of pathogenic variants in cancer susceptibility genes for which there are management guidelines is similar among patients with all types of solid tumors, therefore, it does not makes sense that current guidelines only recommend germline genetic testing for all patients with ovarian, pancreatic, and recently, colorectal cancers. This information has the potential to affect the treatment of these individuals' current cancers. In addition, it has the potential to allow for the prevention or early detection of future cancers in both these patients and their family members," said Heather Hampel, MS, CGC, professor, Department of Medical Oncology & Therapeutics Research, City of Hope.

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 potential benefits of universal genetic testing for all patients with cancer; and that restrictive guidelines can lead to disparities 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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