Cost comparison among different genetic testing strategies in women with epithelial ovarian cancer

Abstract

Objectives: Few studies have described genetic counseling and testing of specific minority patients at risk for ovarian cancer. The purpose of this study was to describe our experience with genetic counseling and testing of an African American (AA) population evaluated at a large, southeastern medical center. Methods: We reviewed an institutional review board-approved prospectively gathered database of all patients evaluated in an Ovarian Cancer Risk Assessment Clinic. Data evaluated included general demographics, family and personal history of cancer, frequency of genetic testing, frequency and types of deleterious mutations, and performance of risk-reducing salpingo-oophorectomy (RRSO). Results: From 2003 to 2014, 76/1004 patients (7.6%) evaluated in this clinic were AA. Sixty-four (84%) of these patients had a family history of ovarian and/or breast cancer, and 12 (16%) had a personal history of ovarian cancer. Thirty-six patients (47%) underwent genetic counseling only and 40 (53%) opted for genetic testing. Of the 40 women tested, 18 (45%) were found to have an abnormal genetic result. Six patients each had BRCA1 and BRCA2 deleterious mutations, respectively. Four patients had BRCA2 variant results, with three favoring polymorphism. RRSO was performed in six of 18 patients with BRCA mutations or variants, none of whom were noted to have ovarian or fallopian tube cancer at the time of surgery. None of the patients who did not undergo genetic testing or did not have a BRCA mutation or variant have developed ovarian cancer. Conclusions: This study demonstrates that in a region of the country where AAs represent 30% of the population, the number of AA patients as a proportion of all patients referred to an Ovarian Cancer Risk Assessment Clinic for genetic counseling remains low. Genetic testing was, however, performed at a rate comparable to Caucasians, suggesting barriers to genetic counseling and testing may be overcome once patients are evaluated in a dedicated clinic. Of the patients tested, the mutation and variant rate was high, although this may be representative of a more select series of at-risk patients. Efforts should continue to identify minority patients at risk for ovarian cancer and to refer them to dedicated genetic counseling clinics.