Barriers to the utilization of genetic testing and genetic counseling in patients with suspected hereditary breast and ovarian cancers

Abstract

A heritable condition is the identified cause of cancer in 5% to 10% of women with breast cancer and in 25% of women with ovarian cancer. It is critical to identify patients at risk for inherited genetic mutations to implement risk-reducing screening and interventions; however, reports in the medical literature indicate that an alarming number of patients with inherited genetic mutations do not receive recommended genetic counseling, testing, or interventions. In order to improve outcomes for these high-risk patients, barriers to genetic testing and counseling must be identified. We analyzed approximately 200 patients seen at our institution with breast or ovarian cancer who met criteria of the National Comprehensive Cancer Network for genetic counseling and testing. Of these patients, almost 70% had appropriate genetic testing and counseling. Review of the remaining 30% revealed that the largest obstacle to receiving genetic testing and/or counseling was lack of referral from the treating oncologist. Of the patients diagnosed with a pathogenic heritable mutation, most underwent appropriate risk-reducing procedures and surveillance. Thus, the initial referral to genetic counseling is the most significant barrier for at-risk patients at our institution and likely in this population at large. Additional study is needed to identify ways to improve appropriate use of genetic testing and counseling.

Keywords: BRCA mutation; Barriers to utilization; genetic counseling; hereditary breast and ovarian cancer.

Figure 1.

Flow diagram depicting patient screening, inclusion/exclusion, and results of analysis for primary findings. DCIS indicates ductal carcinoma in situ; NCCN, National Comprehensive Cancer Network.