Patients with Family History of Breast, Ovarian Cancers Not Receiving Genetic Testing


Up to 1.3 million women may not be receiving genetic testing to detect BRCA 1/2 mutations, which increase the risk of certain cancer types.

Genetic mutations are known to increase the risk of certain cancers, especially breast and ovarian cancers.

While the mutations, including BRCA1 and BRCA2, are easily detectable through blood or saliva testing, a new study published by the Journal of Clinical Oncology found that more than 80% of women have not received the testing or discussed it with their physician.

“Many of these women have inherited genetic changes that put them and their family members at risk for future cancers,” said lead author Christopher Childers, MD. “Identifying a mutation is often important for surgical decision-making and cancer therapy, but its importance extends further than that. If individuals are aware that they have these mutations, they can take steps to lower their future cancer risk.”

Individuals who have a confirmed genetic mutation are advised to undergo more frequent and specialized cancer screenings, take preventive drugs, undergo risk-reducing surgery, or make lifestyle changes, according to the study.

BRCA 1/2 tests have been available since the mid-1990s. Researchers have also found several other genes that can increase breast and ovarian cancers, but these can be detected by genetic tests.

Included in the new study were data from the 2005, 2010, and 2015 National Health Interview Surveys. Patients included were 47,218 women who had ovarian cancer and women who have had breast cancer diagnosed at 45 years younger, diagnosed at 50 years or younger, have an immediate family member who had breast cancer, have a family member who had breast cancer at 50 years or younger, or have a family member who had ovarian cancer.

Of these women, 2.7% had breast cancer. Among women who met at least 1 of the criteria, only 29% discussed genetic testing and 20.2% were advised to receive the test, according to the study. However, only 15.3% of participants actually received the test.

The authors found that 0.4% of participants had ovarian cancer. Of these patients, 15.1% discussed genetic testing and 13.1% were advised to receive the test. Despite the recommendations, only 10.5% had received the test.

Based on these findings, the authors project that 1.2 million to 1.3 million women who would benefit from genetic testing have not received the test, according to the study.

“Many women are not receiving vital information that can aid with cancer prevention and early detection for them and their family,” said co-author Kimberly Childers, MS, LCGC. “Thus, we have identified an incredible unmet need for genetic testing across the country.”

The authors believe that the revised National Comprehensive Cancer Network guidelines and the small number of board-certified genetic counselors specializing in cancer testing may play a role in the few number of patients receiving the tests, according to the study.

“Also, when women change doctors, their new physicians may not be aware of their histories or of the new eligibility guidelines,” said senior author James Macinko, PhD.

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