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.

Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review

“…Another study reviewed 200 patients with breast or ovarian cancer who met the criteria for genetic testing. Lacking a referral from the attending oncologist was cited as the biggest barrier for 30% of the patients who did not receive adequate testing or counseling [ 16 ].…”

Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer

“…A limitation of our study is that we focused on referrals, and not completed counseling. Though referrals are the single most important factor, 5 there are other reasons women do not receive counseling and appropriate testing for pathogenic variants that increase the risk for cancer.…”

“…The single most important factor, however, is the lack of physician referrals to genetics services, even for patients who meet national guidelines for a formal genetic evaluation. 5 The identification of appropriate candidates for referral at those locations where women receive primary care is essential. The use of risk assessment tools in the primary care setting has been shown to have moderate to high accuracy in guiding which patients should be referred to a cancer genetics professional, but the use of these tools requires additional time and effort to gather personal and family history information.…”

Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway

“…These studies have not been restricted to newly diagnosed BC patients. Other studies have reported that access to testing is more affected by barriers on a provider or system level [36][37][38][39].We do not know whether the eligible patients that were not offered testing had a different demographic profile than the patients who were offered testing. Based on the information that was found in the EPR, we registered whether testing had been initiated by the physician or the patient.…”