Evaluating Women With Ovarian Cancer for BRCA1 and BRCA2 Mutations Missed Opportunities

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Germline mutations in 2 genes, BRCA1 and BRCA2, account for the majority of hereditary breast and ovarian cancer families. Clinical genetic tests are available to identify individuals with these mutations. Almost 50% of ovarian cancer patients who undergo such testing have been found to have a deleterious mutation in BRCA1 or BRCA2. Published guidelines of the American College of Obstetricians and Gynecologists recommend that ovarian cancer patients at a substantial (more than 20%–25%) risk for having BRCA1 or BRCA2 mutations should be referred for genetic counseling. The investigators hypothesized that a significant number of ovarian cancer patients with a personal or family history highly suggestive for a BRCA1 or BRCA2 mutation were not being identified and referred for genetic counseling.

The aim of this study was to estimate the incidence of referral of new ovarian cancer patients at substantial risk of carrying a BRCA1 or BRCA2 mutation. Between 1999 and 2007, a total of 3765 patients with a diagnosis of ovarian cancer were identified from the institutional tumor registry of a cancer center. The medical records were reviewed for evidence of referral to genetic counseling. The Kaplan-Meier method was used to estimate the time to referral.

During the 9-year study period, an average of 23.8% of the 3765 patients met substantial-risk criteria for a BRCA1 or BRCA2 mutation. In 1999, only 12% of patients at substantial risk were referred for genetic counseling. Over time, there was a significant increase in referrals; in 2007, 48% were referred (P < 0.001). More newly diagnosed patients were referred for genetic counseling than new patients who presented for a second opinion or who had recurrent disease (P < 0.001). Compared with white or Hispanic women, African-American women with ovarian cancer, who were at substantial risk, were less likely to be referred for genetic counseling (P < 0.009).

These findings show that despite significant improvement over time in the referral rate of ovarian cancer patients at substantial risk for a BRCA1 or BRCA2 over time, health care providers are still missing 50% of patients at substantial risk. The dictated family history was accurate in these patients and provided clear evidence of risk. The low incidence of referral may result in large part from the lack of a systematic process for identifying cancer patients with hereditary cancer syndromes.

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