A telephone genetic screening program for breast cancer survivors identified pathogenic variants in 12.1% of newly tested patients, compared to 7.43% in those tested closer to diagnosis.
Observational (n=551)
No
A telephone-based genetic screening initiative in breast cancer survivors successfully identified patients interested in testing and uncovered actionable pathogenic variants in a subset of previously untested individuals.
Absolute Event Rate: 12.1% vs 7.43%
e22632 Background: Hereditary screening and testing can identify individuals with a personal or family history harboring genetic variants that increase cancer risk, empowering personalized prevention and targeted treatment. While current national guidelines have increased accessibility of genetic screening, past guidelines limited opportunity at time of diagnosis. This study established a genetic testing initiative as part of a breast cancer (BC) survivorship program to evaluate interest, attitudes, and the current landscape of genetic testing among BC survivors. Methods: This study involved retrospective chart review and telephone survey. Charts of patients (pts) at the Montefiore Einstein Comprehensive Cancer Center BC survivorship program in 2023 were reviewed to determine uptake of genetic testing. All pts were at least 5 years from diagnosis. Pts without prior testing were then contacted for telephone survey. Pts expressing interest were referred for genetic counseling and testing. Results: Of 551 pts seen, 239 (41.4%) were previously referred for genetic counseling, 202 (84.5%) completed genetic testing, and 15 (7.43%) were found to have a pathogenic/likely pathogenic (P/LP) variant BRCA1 (5), BRCA2 (3), RAD51C (1), MRE11A (1), SMARC4 (1), ATM (2), MUTYH (2). Of 312 pts with no prior genetic testing, 268 were outreached by telephone for survey. 140 were reached (55.2%), and 96 (68.6%) agreed to survey. 71 (74.0%) of those surveyed expressed interest in and were referred for genetic testing. In unsolicited remarks, 6 pts cited interest based on personal or familial risk management. Reasons for declining included distrust of phone calls (10), no interest (9), burden of prior cancer diagnosis/testing (4), other medical concerns (4). 33 patients have completed testing to date: 4 patients with P/LP variants (12.1%): MUTYH (1), TP53 (1), RAD51C (1), ATM (1); 9 patients with variants of uncertain significance (VUS) (27.3%), 20 patients (60.6%) tested negative. 11 patients are awaiting genetic counseling, 2 patients are awaiting blood draw for genetic testing, and 25 patients either declined counseling/testing or missed appointment. Conclusions: Continued genetic screening after BC diagnosis and treatment improves management of survivors and families, and the majority of survivors expressed interest in genetic testing. Identifying four P/LP variants among these survivors, including in a high penetrance gene, is informative and potentially life-saving. We found a numerically higher percentage of survivors with P/LP variants compared with those tested closer to BC diagnosis. Some pts declined to participate citing distrust of phone calls, preferring clinician screening at follow-up visits. This initiative will inform breast cancer care delivery, and can also be expanded to other malignancies, such as prostate and endometrial cancer.
Saleem et al. (Thu,) conducted a observational in Breast cancer survivorship (n=551). Telephone genetic screening program vs. Prior genetic testing closer to diagnosis was evaluated on Identification of pathogenic/likely pathogenic (P/LP) variants. A telephone genetic screening program for breast cancer survivors identified pathogenic variants in 12.1% of newly tested patients, compared to 7.43% in those tested closer to diagnosis.
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