{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T20:06:56Z","timestamp":1773000416095,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T00:00:00Z","timestamp":1740528000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["aao-hnsfjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Otolaryngol.--head neck surg."],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To assess the added benefit of newborn genetic screening for <jats:italic>GJB2<\/jats:italic> and <jats:italic>SLC26A4<\/jats:italic> variants in conjunction with newborn hearing screening.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design<\/jats:title><jats:p>Retrospective cohort study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Children with known variants of <jats:italic>GJB2<\/jats:italic> and <jats:italic>SLC26A4<\/jats:italic> were identified from 485 children with hearing loss who underwent testing with Next Generation Sequencing (NGS) between January 2015 and February 2018, prior to expanded screening for genetic variants and congenital CMV. Children with two pathogenic or likely pathogenic variants of <jats:italic>GJB2<\/jats:italic> or <jats:italic>SLC26A4<\/jats:italic> were considered to have genetic hearing loss. NGS genetic data were compared to variants included in the expanded genetic screen for all newborns in Ontario and newborn hearing screening results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>Canadian tertiary pediatric hospital.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty\u2010five children with <jats:italic>GJB2<\/jats:italic> and <jats:italic>SLC26A4\u2010<\/jats:italic>associated hearing loss were identified by NGS (n\u2009=\u200927 <jats:italic>GJB2<\/jats:italic>\u2010HL; n\u2009=\u20098 <jats:italic>SLC26A4<\/jats:italic>\u2010HL). Of these, 20 (57%) had been identified by newborn hearing screening (14\/27 52% <jats:italic>GJB2<\/jats:italic>\u2010HL; 6\/8 75% <jats:italic>SLC26A4<\/jats:italic>\u2010HL). Ten of the 20 (50%) would also have been identified by genetic screening if it had been available (9\/14 64% <jats:italic>GJB2<\/jats:italic>\u2010HL; 1\/6 17% <jats:italic>SLC26A4<\/jats:italic>\u2010HL). An additional 8 children with <jats:italic>GJB2<\/jats:italic> or <jats:italic>SLC26A4\u2010<\/jats:italic>associated hearing loss passed their newborn hearing screen but showed hearing loss later; three of these children (38%) would have been identified by newborn genetic screening (3\/6 <jats:italic>GJB2<\/jats:italic>\u2010HL; 0\/2 <jats:italic>SLC26A4<\/jats:italic>\u2010HL).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Genetic and hearing screening modalities in Ontario's expanded newborn hearing screening program improve early identification of children with hearing loss including those at risk of being missed by hearing screening alone. This was most clear for children with <jats:italic>GJB2<\/jats:italic>\u2010hearing loss.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ohn.1188","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T18:52:54Z","timestamp":1741719174000},"page":"2082-2089","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Importance of Newborn Genetic Screening for Early Identification of <i>GJB2<\/i> and <i>SLC26A4<\/i> Related Hearing Loss"],"prefix":"10.1002","volume":"172","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-5664-1653","authenticated-orcid":false,"given":"Emily R","family":"Wener","sequence":"first","affiliation":[{"name":"Archie's Cochlear Implant Laboratory, Neuroscience &amp; Mental Health, Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon L","family":"Cushing","sequence":"additional","affiliation":[{"name":"Archie's Cochlear Implant Laboratory, Neuroscience &amp; Mental Health, Hospital for Sick Children Toronto Ontario Canada"},{"name":"Department of Otolaryngology\u2010Head and Neck Surgery University of Toronto, Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blake C","family":"Papsin","sequence":"additional","affiliation":[{"name":"Archie's Cochlear Implant Laboratory, Neuroscience &amp; Mental Health, Hospital for Sick Children Toronto Ontario Canada"},{"name":"Department of Otolaryngology\u2010Head and Neck Surgery University of Toronto, Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitrios J.","family":"Stavropoulos","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathobiology University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Mendoza\u2010Londono","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Paediatric Laboratory Medicine, Clinical and Metabolic Genetics, The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nada","family":"Quercia","sequence":"additional","affiliation":[{"name":"Division of Clinical &amp; Metabolic Genetics, The Hospital for Sick Children Toronto Ontario Canada"},{"name":"Department of Genetic Counselling, The Hospital for Sick Children Toronto Ontario Canada"},{"name":"Department of Molecular Genetics, Temerty Faculty of Medicine University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen A.","family":"Gordon","sequence":"additional","affiliation":[{"name":"Archie's Cochlear Implant Laboratory, Neuroscience &amp; Mental Health, Hospital for Sick Children Toronto Ontario Canada"},{"name":"Department of Otolaryngology\u2010Head and Neck Surgery University of Toronto, Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0911225"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra050700"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2015.03.008"},{"key":"e_1_2_8_5_1","unstructured":"Newborn Screening Ontario. 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