The National Comprehensive Cancer Network® (NCCN®) recently announced publication of the newest genetic risk assessment recommendations for breast, ovarian, and pancreatic cancers. The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020 contains several updates—including new and expanded sections on risk assessment and management related to three major cancer types—while also maintaining a more conservative approach toward testing practices where the evidence is still lacking.
Mary B. Daly, MD, PhD, FACP
“These guidelines are as inclusive as possible, wherever there’s strong, unbiased evidence to back up our recommendations,” said Mary B. Daly, MD, PhD, FACP, of Fox Chase Cancer Center in Philadelphia. Dr. Daly is the Chair of the NCCN Guidelines Panel for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. “
Genetic Testing Criteria Simplified
The updated guidelines are concentrated around simplified criteria to clarify the genetic testing process. For example, in a newly-added guide for individuals of Ashkenazi Jewish ancestry who have not been diagnosed with cancer, genetic testing may be offered for the three Ashkenazi Jewish founder mutations in the context of a long-term research study, regardless of family history. These individuals should be encouraged to consult with a cancer genetics professional.
The NCCN Guidelines for Genetic/Familial High-Risk Assessment are organized by both disease and syndrome type, and also now include streamlined information on appropriate subsequent steps for persons who meet criteria for genetic testing. The panel acknowledges that genetic mutations can impact the approach to cancer treatment, and the guidelines now state that testing may be clinically indicated if it will aid in systemic therapy decision-making.
Robert Pilarski, MS, LGC, MSW
“Genetic testing is becoming increasingly utilized in oncology because of its potential to impact surgical decisions and chemotherapy,” explained Robert Pilarski, MS, LGC, MSW, a licensed genetic counselor and Vice-Chair of the NCCN Guidelines Panel. Mr. Pilarski is also Professor, Clinical Internal Medicine, The Ohio State University Comprehensive Cancer Center.
“At the same time, the complexity of this testing is increasing, with a growing number of genes and tests available, a limited understanding of the management implications of some of the newer genes, and even uncertainty over the implications of mutations in well-established genes in some situations,” Mr. Pilarski said. “The NCCN Guidelines continue to highlight the critical importance of genetic counseling for patients prior to undergoing genetic testing to ensure that patients are fully informed of the test implications.”
Mr. Pilarski also offered an important word of caution about the potential risks from direct-to-consumer genetic testing: “More and more patients are presenting to clinic having already had themselves tested through direct-to-consumer labs. Providers need to be aware that the tests offered by many of these labs are not equivalent to traditional genetic testing, and the results may need to be confirmed in another laboratory before being used for clinical care.”
Pancreatic Cancer and Genetic Testing
The guidelines recommend all pancreatic cancer patients get genetic testing, and the recent update now includes more information about which genes are associated with pancreatic cancer recommendations. Genetic testing in pancreatic cancer can help determine which treatments would be most effective and if family members would benefit from screening and preventive action.
Matthew B. Yurgelun, MD
“There’s been an explosion of recent data showing that roughly 4% to 10% of individuals with pancreatic cancer harbor inherited genetic mutations, including BRCA1, BRCA2, ATM, the Lynch syndrome genes, and others,” said Matthew B. Yurgelun, MD, a member of the NCCN panel. Dr. Yurgelun is with the Dana-Farber/Brigham and Women’s Cancer Center, in Boston.
“Such data have, surprisingly, shown that classic ‘high-risk’ features of inherited cancer risk are often absent in individuals with pancreatic cancer who carry these mutations,” Dr. Yurgelun said. “Based off of these data, there is now a compelling reason for all individuals with pancreatic cancer to be offered genetic counseling and germline testing for such variants—particularly given the possibility that their at-risk family members could greatly benefit from known, effective cancer risk-reducing interventions.Emerging data have also begun to suggest possible benefits to pancreatic cancer screening in select high-risk individuals who harbor such mutations. These new guidelines address many of the important nuances and limitations of this exciting and rapidly evolving body of literature.”■