Mp13-15 Embedding Genome Sequencing and Genetic Counselling Into the Male Infertility Practice

You have accessJournal of UrologyInfertility: Epidemiology & Evaluation I (MP13)1 May 2024MP13-15 EMBEDDING GENOME SEQUENCING AND GENETIC COUNSELLING INTO THE MALE INFERTILITY PRACTICE Christopher J. Warren, Kaitlin Sikkink, Kayla Kolbert, Laura Duncan, Sarah Kroc, Toering Emily, Gill Chloe, Sonia Sabrowsky, Alyssa Knudson, Jennifer Kemppainen, Filippo Pinto e Vairo, Jewel Samadder, Sevann Helo, and Nahid Punjani Christopher J. WarrenChristopher J. Warren , Kaitlin SikkinkKaitlin Sikkink , Kayla KolbertKayla Kolbert , Laura DuncanLaura Duncan , Sarah KrocSarah Kroc , Toering EmilyToering Emily , Gill ChloeGill Chloe , Sonia SabrowskySonia Sabrowsky , Alyssa KnudsonAlyssa Knudson , Jennifer KemppainenJennifer Kemppainen , Filippo Pinto e VairoFilippo Pinto e Vairo , Jewel SamadderJewel Samadder , Sevann HeloSevann Helo , and Nahid PunjaniNahid Punjani View All Author Informationhttps://doi.org/10.1097/01.JU.0001008832.14212.d6.15AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Genetics play a pivotal role in male infertility. While aneuploidies and structural chromosomal aberrations are well-established genetic causes, additional pathogenic variants in genes such as those related to spermatogenic impairment have been identified as potential contributors to male infertility. Early identification of genetic causes utilizing new techniques such as chromosomal microarray analysis (CMA), next-generation sequencing (NGS) gene panels, and genome sequencing (GS) may help to guide more effective treatment strategies, improve outcomes, and facilitate appropriate counselling. METHODS: In a collaboration between Urology and the Center for Individualized Medicine, we developed a unique customized genetic testing service for male infertility. We utilized a novel genetic counseling model called the Genetic Testing and Counseling unit consisting of genetic counselors, genetic counselor assistants, genetic nurses, and a medical geneticist. Eligibility for a referral included individuals who met standard male infertility guideline criteria for genetic screening. A custom genome-based panel including 303 published genes known to be associated with male infertility was ordered alongside copy number variant analysis collected by saliva. Results were returned to the patient via post-test genetic counseling, and medical management and follow-up was facilitated by the urologist. RESULTS: A total of 13 referrals were made from 03/23-10/23 at two Mayo Clinic sites (Rochester and Arizona) to the GTAC team. Median age was 28 years (IQR 25-36). A total of 6 patients have received results with an average turnaround time of less than 7 weeks. Two patients had chromosome abnormalities (balanced translocation involving the X chromosome and XXY) that were deemed causative for their phenotype, three patients had single pathogenic variants in recessive genes (including CFTR and HFE) or variants of uncertain significance deemed not diagnostic at this time (HS6T1, SEMA3A, CFAP47, DUOX2, and DNAH5), and one patient had negative results. CONCLUSIONS: Understanding the genetics of male infertility enhances diagnostic precision and paves the way for personalized treatment strategies and informed reproductive decision-making. Our custom gene panel with copy number variant analysis via saliva provides a more cost effective and less invasive option than traditional testing. Collaborative efforts and improved access to genetic counseling and novel technologies can increase diagnostic yield in rare disease indications where genomic testing has been underutilized. Source of Funding: None © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e216 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information Christopher J. Warren More articles by this author Kaitlin Sikkink More articles by this author Kayla Kolbert More articles by this author Laura Duncan More articles by this author Sarah Kroc More articles by this author Toering Emily More articles by this author Gill Chloe More articles by this author Sonia Sabrowsky More articles by this author Alyssa Knudson More articles by this author Jennifer Kemppainen More articles by this author Filippo Pinto e Vairo More articles by this author Jewel Samadder More articles by this author Sevann Helo More articles by this author Nahid Punjani More articles by this author Expand All Advertisement PDF downloadLoading ...