Abstract PS3-02-29: Reevaluation of Hereditary Cancer Screening and Testing at an Urban Breast Cancer Survivorship Program in the Bronx, NY - A Pilot Study

Abstract Introduction Current national guidelines recommend consideration of genetic testing for all newly diagnosed breast cancer (BC) patients (pts). However, hereditary cancer predisposition genetic testing has been historically underutilized for many reasons, including limitations of prior National Comprehensive Cancer Network (NCCN) guidelines, insurance/financial barriers, and emotional burden of diagnosis and testing. Thus, many BC survivors did not receive current standard of care genetic testing at diagnosis. Benefits of germline genetic testing and identification of pathogenic variants (PV) in late BC survivorship include eligibility for enhanced screening for other malignancies and potential cascade testing of family members. We conducted a pilot study evaluating interest in and uptake of genetic testing among BC survivors. Methods Charts of pts seen at Montefiore Einstein Comprehensive Cancer Center BC survivorship program from January 1, 2023 to December 31, 2023 (n=551) were reviewed. All pts were at least 5 years from diagnosis and completed BC treatment. Pts who had not previously received multi-gene panel testing were contacted by telephone to determine interest in genetic counseling and testing. The benefits of genetic counseling were formally discussed with pts by either the clinician caring for them at their annual survivorship visit or by person distributing survey. Results 312 (57%) pts seen in survivorship had not previously completed genetic testing. 34 (6%) had been previously referred for counseling, but did not complete testing due to financial barriers, personal reasons, or guideline exclusion. Of pts who did not undergo testing, 95 (30%) met 2024 NCCN criteria for testing: 47 by age at diagnosis, 23 by diagnosis of triple negative BC, 12 by family history (FH) of ovarian cancer, 6 by FH of pancreatic cancer, and 7 by FH of BC and/or prostate cancer. 130 patients who had previously not completed testing were called for telephone survey, prioritizing those previously referred but not tested, and those who met current NCCN guidelines for testing. 20 pts declined the survey. Reasons for declining survey included other medical concerns (n=4), scheduling issues (n=10), and lack of interest (n=6). 64 pts were unable to be reached by telephone. 46 pts completed the survey (44 pts surveyed in English, 2 in Spanish). Of those surveyed, 29 (63%) expressed interest in genetic testing. Reasons for interest included obtaining information for family (n=2); obtaining information about prior diagnosis and cancer risk (n=3); reducing anxiety (n=2). Reasons for declining counseling included not desiring further invasive tests (n=3). Most pts did not endorse a reason for agreeing or declining counseling. 11 pts (38%) have completed testing to date. Results of testing include BRCA1 PV (n=1), TP53 PV (n=1), variants of uncertain significance (n=2), and negative results (n=7). 19 pts have been referred for genetic consultation and are awaiting testing. Conclusions While more than half of BC patients eligible for genetic testing at diagnosis did not receive it, 63% of those surveyed in survivorship expressed interest in undergoing testing, and 38% of those expressing interest have completed testing to date. Our study demonstrates feasibility of and interest in germline genetic testing in late BC survivorship. Clinicians caring for BC survivors who have not undergone genetic testing should discuss benefits of testing for patients and their families, as well as changes in guidelines and insurance coverage. Next steps include completing genetic consultation and testing for referred patients and continuing to reach out to all pts without prior genetic testing or with outdated testing. Citation Format: A. Saleem, A. Sanchez, E. Suskin, M. Lalla, A. Moadel-Robblee, D. Makower, S. Klugman. Reevaluation of Hereditary Cancer Screening and Testing at an Urban Breast Cancer Survivorship Program in the Bronx, NY - A Pilot Study abstract. In: Proceedings of the San Antonio Breast Cancer Symposium 2025; 2025 Dec 9-12; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2026;32(4 Suppl):Abstract nr PS3-02-29.