Results from a recent study add to a growing body of evidence suggesting that universal hereditary cancer genetic testing improves outcomes in people with breast cancer—including those in rural populations.

Published in Annals of Surgical Oncology, a collaborative study led by the medical genetics company Invitae and the Outer Banks Hospital found that universal hereditary cancer genetic testing not only improved patient outcomes but also reduced treatment costs, according to an Invitae news release. This study marks the first time this has been done in a rural community health care setting. 

While the American Society of Breast Surgeons recommends germline genetic testing in all patients with breast cancer, the National Comprehensive Cancer Network (NCNN) restricts hereditary cancer genetic testing to a subset of patients with breast cancer.

For the study, people with breast cancer were offered hereditary cancer genetic testing regardless of whether they met NCCN eligibility guidelines. For this study, more than half of patients (52.4%) met NCCN criteria and 45.8% did not.

Among patients diagnosed with breast cancer, 91.4% underwent testing and received results that could ease their treatment journey.

About 70% of patients revised their cancer care based on genetic testing results—for example, by making changes to surgery, radiation, surveillance and clinical follow-up plans, according to Invitae. A majority of patients (97%) said the results of their genetic testing were useful in decision-making. What’s more, they reported that the knowledge of the results prior to their primary therapy reinforced their choice for surgery.

“Our study provides a blueprint for implementing universal hereditary cancer genetic testing in rural populations who typically see disproportionate care due to access to services and treatment,” said the study’s lead author Charles Shelton, MD, a radiation oncologist at the Outer Banks Hospital. “We demonstrate that germline-directed clinical management did not lead to under- or overuse of radiation therapy or bilateral mastectomy, thus demonstrating that universal testing enables optimization of clinical care and reduces unnecessary health care resource utilization.” 

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