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August 08, 2022

New NCCN Colorectal Cancer Guidelines Recommend Genetic Testing for All Diagnosed Patients

- Significant changes made to current NCCN testing recommendations increase access to testing for historically underserved populations -

SAN FRANCISCO, Aug. 8, 2022 /PRNewswire/ -- As a result of recent research revealing that a significant number of colorectal cancer patients with actionable variants are missed under previous genetic testing guidelines, the National Comprehensive Cancer Network (NCCN) announced new guidelines calling for testing to be available to all patients diagnosed with colorectal cancer. Specifically, NCCN recommended that germline multigene panel testing should be offered to all individuals with CRC age <50 and be considered for all others, particularly for, but not restricted to, those with evidence of mismatch repair in their tumor or suggestive family history. These new recommendations expand the current testing criteria, which limited testing to certain age groups and types of cancer. 

The new NCCN guidelines follow recent landmark studies published in JAMA Oncology and Clinical Gastroenterology and Hepatology by Invitae and Mayo Clinic supporting universal genetic testing for all cancer patients, regardless of cancer type, age, stage or family history. The data showed that nearly 1 in 6 colorectal cancer patients had inherited gene mutations that increased their risk of cancer. Additionally, more than 10% of patients in the study had changes to their cancer treatments based on genetic testing findings – many of whom would have been missed by previous limited testing guidelines. The study also found that patients diagnosed with colorectal cancer at a younger age were more likely to have heritable genetic changes linked to an increased risk of cancer.

The new NCCN guidelines have the potential to impact millions, as colorectal cancer is the third most diagnosed cancer and an estimated 5 million people worldwide currently live with colorectal cancer according to the American Cancer Society. The lifetime risk of developing colorectal cancer according to ACS is about 1 in 23 for men and 1 in 25 for women, and there's recently been an increase in incidence among people younger than 50 years old. Understanding risk and implementing screening strategies is essential to early detection and better outcomes for patients.

"As the medical community's understanding of genetic links to cancer evolves, genetic testing guidelines must evolve with it," said Robert Nussbaum, M.D., chief medical officer of Invitae, who co-authored a letter in January 2022 to the NCCN formally requesting universal germline testing for patients with CRC be added to their guidelines. "In addition to excluding older people from receiving access to medically actionable information about their disease, previous guidelines were based on studies with an overrepresentation of individuals of European origin, potentially biasing and exacerbating existing disparities to those of non-European background."

"The number of genes with targeted therapeutic or clinical management implications for colorectal cancer has significantly increased in recent years," Dr. Nussbaum continued. "At the same time, genetic testing has become more affordable. These new guidelines will help identify more patients and their family members who might benefit from genetic assessment."

"The INTERCEPT study supports the use of universal germline genetic testing for patients with colorectal cancer, and has shown the clinical impact of this strategy in targeted therapy implementation, personalized clinical management and cascade family testing for prevention. The NCCN update will improve access for patients with colorectal cancer to the gene-directed precision care they need," Jewel Samadder, M.D., enterprise co-leader precision/individualized cancer medicine, Mayo Clinic Comprehensive Cancer Center.

In addition to recommending testing be either offered or considered for all diagnosed colorectal cancer patients, the NCCN guidelines recommend subsequent cascade testing of family members of colorectal cancer patients who have pathogenic variants identified in cancer risk genes. "This is one of the biggest challenges related to germline multigene panel testing for all colorectal cancer patients," explained Ed Esplin, M.D., Ph.D., FACMG, FACP, clinical geneticist at Invitae and a co-author of the INTERCEPT study. "Alerting other family members to be tested to determine increased risk and implementing more intensive surveillance could lead to earlier diagnosis, significantly higher chance of curative treatment and ultimately, prevention of colorectal cancer entirely for those at increased risk."

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 impact of the new NCCN guidelines and the potential benefits of increased access to genetic testing. 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 March 31, 2022. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Amy Hadsock
(628) 213-3283


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