Screening for genetic risk at the time of mammography

ABSTRACT

Introduction: Approximately, 10-15% of breast cancers may be hereditary. Early identification of elevated genetic risk may decrease morbidly and mortality associated with breast cancer for this population by enabling timely implantation of optimized screening techniques. Reaching out to women with breast cancer risk assessment at the time of mammography may provide an opportunity to connect risk perception with risk reduction action. We hypothesized that women receiving a high-risk assessment at the time of mammography would facilitate entry to genetic counseling. Methods: In September 2019, Jefferson Health New Jersey (JHNJ) started utilizing a tool to screen individuals for an increased risk for hereditary breast cancer syndromes (family history screening 7;FHS-7) to all women presenting for mammography at its three breast imaging centers. The FHS-7 tool was embedded into the electronic medical record system and would generate a score based on 7 questions related to a patient's family history of breast, ovarian and bowel cancer. Women who were identified at elevated risk (FHS-7 scores ≥1) were asked by the mammography technician prior to performing the screening mammogram for their permission to be contacted by a high-risk counselor for a formal high-risk assessment and potential genetic counseling/testing. In March 2020, nearly all cancer screening services shut down with the COVID-19 pandemic. Services re-opened in June 2020. We report on our experience in three-time frames September 2019-February 2020;March 2020-May 2020, and June 2020-present. Results: From September 2019-February 2020 3, 169 mammograms and FHS-7 screenings were performed. 44 had scores ≥1 (1.4%). 4 (9%) agreed to be contacted for an appointment with a high-risk counselor. Of these, 2 had previously met with genetics. No additional appointments were scheduled. From March 2020-May 2020, 576 mammograms and FHS-7 screenings were performed. 9 had scores ≥1 (1.6%). None agreed to be contacted for an appointment with a high-risk counselor. Two appointments had previously been completed. From June 2020-June 2021, 9, 131 mammogramsand FHS-7 screenings were performed. 240 had scores ≥1 (2.6%). 22 (9%) agreed to be contacted for an appointment with genetics. 11 appointments had previously been completed. 8 (73%) were completed as a consequence of this direct outreach. Conclusion: Although our work was interrupted by the COVID-19 pandemic, screening for hereditary risk at the time of mammography may be an effective way of facilitating referrals for genetic counseling/testing for high-risk patients. Consent to be contacted for a formal high-risk assessment was consistent at 9% pre-mammography closure and post-mammography re-opening. Consent to be contacted for genetics is likely to be associated with breast cancer risk perception. Future Directions We are planning an educational intervention regarding the FSH-7 risk assessment tool and a positive score's association with the risk of hereditary breast cancer syndromes, as well as the benefits of optimized screening techniques depending on a patient's life-time risk of developing breast cancer. We anticipate that this will likely result in greater acceptance of a formal high-risk assessment for this at-risk population.