Advances in cancer genetic testing have improved clinical follow-up care for patients at risk for hereditary cancer. However, they have also highlighted the important role that cancer genetic specialists can play in conjunction with primary care providers, like obstetricians and gynecologists, as they help patients identify what tests are appropriate for them and interpret complex test results.

Research from the George Washington University (GW) Cancer Center was recently published in Obstetrics and Gynecology showing that results of cancer panel genetic testing often lead to clinically relevant changes to risk management, either by increasing follow-up for individuals with potentially harmful cancer predisposing mutations, or decreasing unnecessary interventions for patients found to be at average risk.

“We found that cancer genetic panel testing can potentially catch harmful mutations that might be missed by targeted testing alone,” said Rebecca Kaltman, MD assistant professor of medicine at the GW School of Medicine and Health Sciences and co-author on the study. “This can help providers tailor follow-up recommendations for their patients and continues to contribute to our understanding of the way complex combinations of genes influence cancer risk.”

The study featured a retrospective chart review of patients referred to the Ruth Paul Cancer Genetics and Prevention Service at the GW Cancer Center for genetic testing, counseling or both. All patients met current National Comprehensive Cancer Network (NCCN) criteria for further genetic risk evaluation for hereditary cancer, including either a personal or family history of certain types of cancer. Follow-up decisions about clinical management recommendations and changes were based on NCCN guidelines as well as a collaborative process with genetic counselors, oncologists, and surgical providers.

While previous studies have reported on the prevalence of cancer risk mutations in the general population, this study is unique in that it focused on changes in clinical management based on the results of genetic testing. A quarter of the patients who underwent genetic testing in the study had a clinically relevant change in surveillance. In addition, 75 percent of panel tested patients in the study were diagnosed with mutations that would not have been caught with BRCA or targeted genetic testing alone.

“Many individuals with genetic changes that are potentially important for determining cancer risk could be overlooked because they don’t meet criteria for testing under traditional single gene and syndrome-focused approaches,” said Elizabeth Stark, MS, CGC, cancer genetic counselor at the GW Cancer Center and co-author on the study. “Panel testing also confers added benefits, like encouraging potentially at-risk family members to get tested or helping minimize testing fatigue for patients and providers.”

The article, “Effects of Cancer Genetic Panel Testing on at-Risk Individuals,” published in Obstetrics and Gynecology, can be found at dx.doi.org/10.1097/AOG.0000000000002531.