{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T00:11:41Z","timestamp":1780445501219,"version":"3.54.1"},"reference-count":42,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,12,31]],"date-time":"2020-12-31T00:00:00Z","timestamp":1609372800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004752","name":"State Government of Victoria","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004752","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:sec><jats:title>Objectives\/Hypothesis<\/jats:title><jats:p>To assess the relative cost\u2010effectiveness of exome sequencing for isolated congenital deafness compared with standard care.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design<\/jats:title><jats:p>Incremental cost\u2010effectiveness and cost\u2010benefit analyses were undertaken from the perspective of the Australian healthcare system using an 18\u2010year time horizon.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A decision tree was used to model the costs and outcomes associated with exome sequencing and standard care for infants presenting with isolated congenital deafness.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Exome sequencing resulted in an incremental cost of AU$1,000 per child and an additional 30 diagnoses per 100 children tested. The incremental cost\u2010effectiveness ratio was AU$3,333 per additional diagnosis. The mean societal willingness to pay for exome sequencing was estimated at AU$4,600 per child tested relative to standard care, resulting in a positive net benefit of AU$3,600. Deterministic and probabilistic sensitivity analyses confirmed the cost\u2010effectiveness of exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings demonstrate the cost\u2010effectiveness of exome sequencing in congenital hearing loss, through increased diagnostic rate and consequent improved process of care by reducing or ceasing diagnostic investigation or facilitating targeted further investigation. We recommend equitable funding for exome sequencing in infants presenting with isolated congenital hearing loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Level of Evidence<\/jats:title><jats:p>N\/A.<jats:italic>Laryngoscope<\/jats:italic>, 131:E2371\u2013E2377, 2021<\/jats:p><\/jats:sec>","DOI":"10.1002\/lary.29356","type":"journal-article","created":{"date-parts":[[2020,12,31]],"date-time":"2020-12-31T15:52:31Z","timestamp":1609429951000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Exome Sequencing for Isolated Congenital Hearing Loss: A Cost\u2010Effectiveness Analysis"],"prefix":"10.1002","volume":"131","author":[{"given":"Lilian","family":"Downie","sequence":"first","affiliation":[{"name":"Victorian Clinical Genetics Services Melbourne Victoria Australia"},{"name":"Murdoch Children's Research Institute Melbourne Victoria Australia"},{"name":"Royal Children's Hospital Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Amor","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services Melbourne Victoria Australia"},{"name":"Murdoch Children's Research Institute Melbourne Victoria Australia"},{"name":"Royal Children's Hospital Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Halliday","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Lewis","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Martyn","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne Melbourne Victoria Australia"},{"name":"Melbourne Genomics Health Alliance Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7946-8324","authenticated-orcid":false,"given":"Ilias","family":"Goranitis","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute Melbourne Victoria Australia"},{"name":"Centre for Health Policy University of Melbourne Melbourne Victoria Australia"},{"name":"Australian Genomics Health Alliance Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-018-0053-8"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0006-8"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.247"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.2217\/pgs.13.183"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.226"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0553-8"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0194599815591156"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0553-8"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjpo-2017-000119"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0745-1"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.14508"},{"key":"e_1_2_6_13_1","unstructured":"Australia M.Pharmaecutical benefits schedule item reports. 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