University of Kansas Cancer Center, Westwood, KS
Lori Ranallo , Lauren Elizabeth Nye , Mary Williams , Carol J. Fabian F.A.S.C.O , Anne O'Dea , Jennifer R. Klemp
Background:: Breast cancer survivorship care (BCSC) includes the ongoing assessment of personal and family cancer history and offering genetic education, counseling and testing to survivors who meet NCCN, ASBrS and Medicare guidelines for germline genetic testing. It is reported that approximately 8% of patients with breast cancer (BC) will have a clinically actionable germline mutation. However, lower than expected rates of testing are seen in both the acute and extended phases of BCSC. We sought to identify the number of patients seen in a long-term survivorship clinic who had previously undergone or currently qualified for germline testing, and the prevalence of germline variants in BC survivors. Methods: In a Nurse Practitioner (NP) led clinic, 2,184 non-selected BC survivors were screened to determine if: germline testing was previously completed or if update germline testing or initial germline testing is needed (with a 3-generation review of family history). BC survivors eligible for initial or update germline testing (411 patients) were provided with genetic education, counseling, and offered multigene panel testing. Seven (7) BC survivors declined testing. Results: From May 2019 – January 2021, 2,184 BC survivors were seen in the clinic. The average age of survivors = 60.2 yrs; average time since diagnosis = 10.7 yrs; and average age at diagnosis = 50.1 yrs, gPV were identified in 10.4%. Out of pocket cost on average was $50.00 for 2.0% of those tested. Conclusions: Within a comprehensive Breast Cancer program where genetic testing is common practice, there is an ongoing need to screen breast cancer (BC) survivors for genetic testing eligibility. A significant number of BC survivors will test positive for a pathogenic mutation (10.4%) a decade after an initial diagnosis. Genetic testing is a necessary step to stratify a BC survivors’ risk of developing secondary cancers, appropriate screening and prevention strategies, cascade testing, and for some, treatment planning. This individualized approach to BCSC is often described, but difficult to put into action. Time/access and drop rates with a referral model are barriers. Incorporating a point of care genetic testing model requires additional support (genetic extender), professional development, education, and a commitment to provide patient centric care.
Germline Testing | Total Tested (n = 404) | |
---|---|---|
Positive Family History | 75% (n = 300) | |
Results | Most common gPV identified | |
Pathogenic Variant | 10.4% (n = 42) | CHEK2 (9), MUTYH (7), ATM (6) and APC (3), BRCA2 (3) |
VUS | 30% (n = 121) | |
No Pathogenic Variant | 59.6% (n = 241) | |
Positive Family History | 75% (n = 300) | |
Results | ||
Pathogenic Variant | 11.2% (n = 45) | |
VUS | 29% (n = 116) | |
No Pathogenic Variant | 59.8% (n = 240) |
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Abstract Disclosures
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First Author: Madeleine Uelk
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