MP54-12 IMPLEMENTATION AND OUTCOMES OF A UNIVERSAL GERMLINE SCREENING PROGRAM IN A COMMUNITY UROLOGY PRACTICE

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You have accessJournal of UrologyCME1 Apr 2023MP54-12 IMPLEMENTATION AND OUTCOMES OF A UNIVERSAL GERMLINE SCREENING PROGRAM IN A COMMUNITY UROLOGY PRACTICE Neil Mendhiratta, Herman Hauver, Whitley Hatton, Andrew Ostrusky, Devika Sathe, Patricia Rice, Sandeep Gurram, and Heather Chalfin Neil MendhirattaNeil Mendhiratta More articles by this author , Herman HauverHerman Hauver More articles by this author , Whitley HattonWhitley Hatton More articles by this author , Andrew OstruskyAndrew Ostrusky More articles by this author , Devika SatheDevika Sathe More articles by this author , Patricia RicePatricia Rice More articles by this author , Sandeep GurramSandeep Gurram More articles by this author , and Heather ChalfinHeather Chalfin More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003307.12AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: The role of germline genetic testing in urologic oncology has expanded in recent years. However, implementation of genetic testing in community practices remains a challenge, often due to limited access to qualified genetics trained providers. In this study, we report outcomes of a universal germline screening program in a community urology practice. METHODS: Between August 1st, 2021 and September 19th, 2022, all patients referred for urology clinic visits at Frederick Health (Frederick, MD, USA) were provided an online genetics screening questionnaire prior to the visit. Responses were compared against National Comprehensive Cancer Network (NCCN) criteria for germline testing. Those who met criteria were provided educational materials at the end of the questionnaire, and then counselled by a trained urologic oncologist (HC) in the clinic or referred to a genetic counselor prior to testing. Testing was performed with a 36-gene pan-cancer panel (CancerNext) or a 14-gene targeted prostate cancer panel (ProstateNext), with or without additional RNA analysis (RNAinsight) (Ambry Genetics, CA, USA). Demographic and clinical parameters, as well as genetic testing results, were retrospectively collected under IRB approval. RESULTS: In the study period, 846 patients were seen over 1,580 clinic visits. Of these, 540 patients (63.8%) completed the screening questionnaire. The majority were completed via email (59.7%) with the remainder (40.3%) via text message. Of the patients who completed screening, 136/540 (25.2%) met NCCN criteria for germline testing. 49/136 patients (36%) who met criteria underwent germline testing, of whom 6/49 (12.2%) had distinct pathogenic mutations identified. These included actionable mutations in BRCA1 (c.4616dupT), BRCA1 (c.4964_4982del19), BRCA2 (p.D2723H; c.8167G>C), and CHEK2 (1100delC); additional pathogenic mutations were found in LZTR1 (c.774delT;p.F258Lfs*93) and NBN (p.S706,c.2117c>G). Variants of unknown significance were identified in 8/49 patients (16.3%) in 9 total genes. Challenges to implementation of this program included meeting institutional requirements for genetic testing consent, facilitating specimen collection in clinic, and integration of results into the electronic health record. CONCLUSIONS: Genetic risk assessment for high-risk individuals is feasible as part of a universal screening program in a community urology practice. Approximately 12% of tested patients were found to have pathogenic germline mutations, which is consistent with contemporary tertiary referral cohorts. Source of Funding: None © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e758 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Neil Mendhiratta More articles by this author Herman Hauver More articles by this author Whitley Hatton More articles by this author Andrew Ostrusky More articles by this author Devika Sathe More articles by this author Patricia Rice More articles by this author Sandeep Gurram More articles by this author Heather Chalfin More articles by this author Expand All Advertisement PDF downloadLoading ...