Genetic Testing Underused in Breast, Ovarian Cancer

Only one-quarter of those with breast cancer and one-third with ovarian cancer undergo genetic testing, according to a study published online April 9 in the Journal of Clinical Oncology.

Allison W. Kurian, M.D., from Stanford University in California, and colleagues examined clinical genetic testing and results in all women aged 20 years and older diagnosed with breast or ovarian cancer in California and Georgia between 2013 and 2014. Data were linked to results from four laboratories that performed germline genetic testing. Data were included for 77,085 patients with breast cancer and 6,001 with ovarian cancer.

The researchers found that 24.1 percent of patients with breast cancer and 30.9 percent of those with ovarian cancer had genetic test results. Among patients with ovarian cancer, testing was lower in blacks than whites (21.6 versus 33.8 percent) and uninsured versus insured patients (20.8 versus 35.3 percent). In breast cancer, prevalent pathogenic variants included BRCA1, BRCA2, CHEK 2, PALB2, ATM, and NBN (3.2, 3.1, 1.6, 1.0, 0.7, and 0.4 percent, respectively); prevalent pathogenic variants in ovarian cancer included BRCA1, BRCA2, CHEK2, BRIP1, MSH2, and ATM (8.7, 5.8, 1.4, 0.9, 0.8, and 0.6 percent, respectively). Overall, 7.8 and 14.5 percent of patients with breast and ovarian cancer, respectively, had pathogenic variants when tested for all genes that current guidelines designate as associated with their cancer type.

"Now we can see that women with ovarian cancer are dramatically undertested," Kurian said in a statement.

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