JAMA Oncology study supports germline genetic testing for all cancer patients

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A new study published in JAMA Oncology found that more than 1 in 8 cancer patients has an inherited genetic mutation associated with hereditary cancer.

One-third 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.

The largest known study of its kind

The two-year INTERCEPT study, a collaboration between Mayo Clinic and Invitae, offered >80-gene panel testing to more than 3,000 patients with a broad spectrum of solid tumor cancers who received care at three Mayo Clinic centers and one community practice.

Half of the patients with pathogenic variants would not have qualified for testing using today’s guidelines, supporting germline testing for all cancer patients to better direct treatment.

“Steps are being taken to ensure all patients [with cancer at Mayo Clinic] are offered genomic sequencing to better understand the genes that led to the development of their cancer, and how to precisely target treatment and improve survival,” says author Niloy Jewel (Jewel) Samadder, M.D., a Mayo Clinic consultant in Gastroenterology and Hepatology.

Family testing: More work to do

INTERCEPT also found that there’s more work to do to increase family testing: more than 80% of families with a pathogenic mutation did not access family variant testing.

“Genetic testing is underutilized in cancer care, both for patients and for their families,” says Robert Nussbaum, M.D., chief medical officer of Invitae, and a contributing author on the study. “All cancer patients should have access to complete genetic information that can guide their care and inform their families’ health.”

We all have someone in our family who’s dealt with cancer. Genetic testing may reveal your risk, so you can take action.

1. Samadder NJ, et al. Comparison of universal genetic testing vs guideline-directed targeted testing for patients with hereditary cancer syndrome. JAMA Oncol. Published online October 30, 2020. doi:10.1001/jamaoncol.2020.6252