Universal Genetic Testing Detects Inherited Mutations in 1 in 8 Patients with Cancer

Genetic testing can play an important role in determining a patient’s risk for developing certain cancers and can be used to individualize treatment for better clinical outcomes. In a recent study published online in JAMA Oncology, researchers reported that universal multigene panel testing among patients with solid tumors was associated with increased detection of mutations compared with targeted testing based on standard guidelines (JAMA Oncol. 2020 Oct 30. Epub ahead of print).

In the 2-year Interrogating Cancer Etiology Using Proactive Genetic Testing (INTERCEPT) study, N. Jewel Samadder, MD, MSc, Director, High Risk Cancer Clinic, Gastroenterology, Mayo Clinic, Phoenix, AZ, and colleagues provided free genetic testing and counseling as part of standard care to 2984 patients who were diagnosed with cancer at Mayo Clinic Cancer Center locations in Arizona, Florida, and Minnesota. The project, which is the largest known multicenter study of universal testing of patients with cancer, included a wide range of cancer stages and types, including breast, colorectal, lung, ovarian, pancreatic, bladder, prostate, and endometrial cancers.

Results showed that 1 in 8 patients (13.3%) with cancer had an inherited cancer-related gene mutation. More importantly, the researchers discovered that this mutation would have gone undetected in approximately 50% of these patients using a standard guideline-based approach.

“This finding highlights the limitations of clinical and guideline-based risk assessment and is consistent with what other studies have reported,” the researchers noted.

The researchers also found that nearly 30% of the patients with the highest-risk cancer genes had a change in their medical management, including the type of surgery or chemotherapy they received.

In addition, all blood-related family members of patients found to have a genetic mutation were offered free genetic testing. Overall, 1 in 5 of these family members underwent testing.

“This study offers significant insight into the performance of multigene panel testing and has broad implications for its wide clinical implementation and acceptance in oncology practice,” the researchers concluded.

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