Genetic Testing Low Among Women with History of Breast, Ovarian Cancer

An estimated 1.2 million American women would likely benefit from recommended genetic test to assess their risk of cancer.

More than 80% of women with a history of breast or ovarian cancer do not undergo recommended genetic testing, a recent study found.

An estimated 1.5 of 4 million women in the United States with a history of breast or ovarian cancer have a high risk of genetic mutations that could increase the risk of additional cancers in the future, according to a press release.

For the study, published in the Journal of Clinical Oncology, investigators examined data from the CDC’s 2005, 2010, and 2015 National Health Interview Surveys.

Although there are blood and saliva tests available that can screen for these mutations, the findings showed that most of the women in the surveys were untested and had never discussed it with their health care providers.

“Many of these women have inherited genetic changes that put them and their family members at risk for future cancers,” lead author Dr Christopher Childers said in the release. “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.”

Based on guidelines from the National Cancer Center Network (NCCN) regarding the management of patients with cancer, the authors identified 5 criteria to determine which women will benefit most from genetic testing.

Patients who would reap the most benefit from genetic testing were women with a history of ovarian cancer and breast cancer. For women previously diagnosed with breast cancer, genetic testing was recommended for those diagnosed at 45 years or younger; diagnosed at 50 years or younger and have a mother, sister or daughter who has breast cancer; have a mother, sister, or daughter who had cancer when they were 50 years or younger; or have a mother, sister, or daughter who had ovarian cancer.

Of the 47,218 women reviewed, 2.7% had a history of breast cancer. For patients who met at least 1 of the 4 criteria, 29% had discussed the test with a health care provider, 20.2% were advised to undergo the genetic test, and only 15.3% received the test.

Among the 0.4% of respondents with ovarian cancer, 15.1% discussed the genetic test with a health care provider, 13.1% were advised to undergo the test, and 10.5% took the test.

The authors estimate between 1.2 and 1.3 million women in the United States who would likely benefit from the genetic test have not received it.

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

Limitations to the study included self-reported data that were not verified by medical records, and the respondents may not have accurately remembered whether they partook in a genetic test discussion with their health care provider.

The authors noted potential reasons for the small number of women who underwent the test being the change in NCCN guidelines over the years and the relatively small number of board-certified counselors who specialize in cancer testing. Additionally, availability of genetic cancers is unevenly distributed across the United States.

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