Few women with breast, ovarian cancer histories undergo genetic testing

Only a small percentage of women with a history of ovarian or breast cancer have undergone genetic testing for hereditary mutations that may make them susceptible to cancer, according to findings published in Journal of Clinical Oncology.

“In the United States, 316,120 women will be diagnosed with breast cancer and 22,440 with ovarian cancer this year,” Christopher P. Childers, MD, general surgery resident at UCLA David Geffen School of Medicine, and colleagues wrote. “Identifying which of these patients carries heritable mutations can direct cancer treatment, and alter surgical decision-making. Although patients should undergo genetic testing at the time of diagnosis, there is likely a large cohort of breast and ovarian cancer survivors for whom testing was not offered, pursued, or even available.”

The researchers reviewed pooled cross-sectional data obtained by the 2005, 2010 and 2015 Cancer Control Modules of the National Health Interview Survey. Eligible patients included women with a history of either breast cancer or ovarian cancer who qualified for testing based on their age and family history.

The main outcomes included the proportions of women who reported having discussed genetic testing with a health care professional, had been advised to undergo testing, or who followed through with testing.

Of 47,218 women included in the study, 0.4% had a history of ovarian cancer and 2.7% had a history of breast cancer.

Among women with a history of breast cancer, more than one-third (35.6%) met at least one of the criteria for genetic testing eligibility. Of those who were eligible, 29% had discussed testing with a health care professional, and 20.2% were advised to undergo testing. Only 15.3% reported having been tested.

Among those with a history of ovarian cancer, 15.1% of women had discussed testing, 13.1% were advised to undergo testing and 10.5% had been tested.

Based on four eligibility criteria for breast cancer and all patients with ovarian cancer, the researchers estimated that 1.2 million to 1.3 million women nationwide had not received testing.

“Childers and colleagues document how poorly we are doing in identifying carriers of pathogenic cancer susceptibility mutations,” Kevin S. Hughes, MD, of Massachusetts General Hospital and Harvard Medical School, wrote in an accompanying editorial.

“It is time to move to population-level screening for hereditary cancer susceptibility mutations,” Hughes wrote. “We have thought about this for 20 years. It might be time to take action.” – by Andy Polhamus

Disclosures: The authors report no relevant financial disclosures. Hughes reports honoraria from Focal Therapeutics, Myriad Genetics and Veritas Genetics, as well as stock or ownership with CRA Health and Hughes RiskApps and a consulting or advisory role with Health Beacons.