Colorectal Cancer | Genetic Testing
Guidelines recommend patients diagnosed with colorectal cancer be offered genetic testing
Updated NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for hereditary colorectal cancer mean expanded access and better care for more patients
For patients with colorectal cancer, genetic testing can inform specific targeted therapies and clinical trials that may lead to better health outcomes. However, recent research shows that patients are not receiving genetic services consistently or equitably.
Data published in JAMA Oncology and Clinical Gastroenterology and Hepatology show that nearly 1 in 6 colorectal cancer patients had inherited gene variants that increased their risk of cancer. However, many of these individuals may have been missed by previous testing guidelines that were limited to specific age groups and types of cancer.
Due to these recent findings, NCCN Guidelines® recommend germline multigene panel testing for all patients with colorectal cancer diagnosed before age 50 and in all patients with colorectal cancer that is mismatch repair (MMR) deficient. Germline multigene panel testing can be considered for patients without MMR deficiency diagnosed at or after age 50.¹*
Now, providers can expand access to genetic testing. That means informing preventive therapies and clinical treatment trials for more colorectal cancer patients.
Colorectal cancer is the third most diagnosed cancer, with an estimated >5 million people worldwide currently living with a diagnosis, according to the American Cancer Society (ACS). As genetic testing becomes more affordable and the number of genes with targeted therapeutic or clinical management options increase, these updates likely mean better outcomes for millions of patients.
“While the medical community’s understanding of genetic links to cancer evolves, genetic testing guidelines must evolve with it,” said Robert Nussbaum, MD, chief medical officer at Invitae. “In addition to excluding older people from receiving access to medically actionable information about their condition, 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.”
Many organizations and coalitions are voicing the need for increased access to testing, including the 2022 Cancer Moonshot℠ Initiative. The recent call to action from the President’s Cancer Panel 2022 report recognized healthcare disparities between different groups accessing genetic services. Recommendations included that all patients who are, or ever have been, diagnosed with cancer be evaluated for germline genetic testing eligibility by a healthcare provider.
Invitae is dedicated to research and initiatives that make genetic testing more accessible. Together, we can ensure all patients and their families who need testing can get it.
Visit our test catalog to learn more about colorectal cancer genetic testing at Invitae.
*Germline multi-gene testing in patients with CRC aged 50 y and older without a known MMR deficiency in the tumor is a category 2B recommendation. For patients with CRC aged 50 y and older with a known MMR deficiency in the tumor, additional tumor testing may be recommended instead of germline multi-gene testing.
Reference
1. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Colorectal V.1.2022. © National Comprehensive Cancer Network, Inc. 2022. All rights reserved. Accessed September 2, 2022. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.