Evaluating women with ovarian cancer for BRCA 1/2: Missed opportunities

Abstract

5532 Background: Genetic testing for a BRCA 1/2 mutation is most efficient and effective when first performed on a cancer patient. Despite its availability, we hypothesized that physicians caring for cancer patients have not adopted hereditary cancer risk assessment into routine oncology practice. As a test case, we examined the rate of genetic counseling referrals for women with ovarian cancer who were at substantial risk for having a germline BRCA mutation. Methods: Family history information was collected from the initial history and physical (H&P) and personal history database of all new patients with ovarian cancer at a tertiary care center in 2000 and 2006. Using the Society of Gynecologic Oncology (SGO) guidelines for genetic counseling referral, we identified patients at substantial (20–25%) risk of a BRCA 1/2 mutation. All subsequent visits were reviewed for referral to genetic counseling. Descriptive, Fisher’s Exact and Kappa statistics were utilized for statistical analysis. Results: 459 women in 2000 and 407 women in 2006 with epithelial ovarian cancer were seen as new patients. Family history was dictated in the initial H&P for 92.8% of patients in 2000 and 97.3% in 2006. Agreement between the personal history database and dictated family history was high (κ=0.92, 95% CI=0.88–0.97). In 2000, 17 of 98 (17.4%) patients at substantial (20–25%) risk of a BRCA mutation were referred. In 2006, 34 of 74 (46%) of patients at substantial (20–25%) risk were referred (p=0.0001). New patients undergoing primary therapy were more often referred for genetic counseling than new patients seen with recurrent disease or patients seen as a second opinion (p=0.0035). Conclusions: Although most patients had an accurate family history dictated, the interpretation of risk for BRCA1/2 mutations and subsequent referral to genetic counseling was poor in 2000. While the improvement in 2006 corresponded to the addition of genetic counseling services in our clinic, still over 50% of high risk patients were not referred. Given the benefit to the family and the possible direct benefit to the patient through new targeted therapeutics, greater attention to the process of hereditary cancer risk assessment and identification of women with BRCA 1/2 mutations is essential. No significant financial relationships to disclose.