{"title":"Genetic testing for pediatric sensorineural hearing loss in the era of gene therapy.","authors":"A Eliot Shearer","doi":"10.1097/MOO.0000000000001005","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>To summarize indications, methods, and diagnostic yields for genetic testing for pediatric hearing loss.</p><p><strong>Recent findings: </strong>Genetic testing has become a cornerstone of clinical care for children with sensorineural hearing loss. Recent studies have shown the efficacy of gene panels and exome sequencing for any child with sensorineural hearing loss. Recent findings have underscored the importance of a diagnosis in clinical care. Clinical trials for gene therapy for hearing loss have begun.</p><p><strong>Summary: </strong>Genetic testing has become critical for personalized care for children with hearing loss. Recent studies have shown a 43% overall diagnostic yield for genetic testing for pediatric hearing loss, though the diagnostic yield may range from 10 to 60% depending on clinical features. Syndromic diagnoses comprise 25% of positive genetic tests for pediatric sensorineural hearing loss. While diagnostic yield is lower for children with unilateral or asymmetric sensorineural hearing loss, the likelihood of syndromic hearing loss finding is higher. An early and accurate genetic diagnosis is required for participating in clinical trials for gene therapy for hearing loss.</p>","PeriodicalId":55195,"journal":{"name":"Current Opinion in Otolaryngology & Head and Neck Surgery","volume":null,"pages":null},"PeriodicalIF":1.9000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Opinion in Otolaryngology & Head and Neck Surgery","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MOO.0000000000001005","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/6 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"OTORHINOLARYNGOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose of review: To summarize indications, methods, and diagnostic yields for genetic testing for pediatric hearing loss.
Recent findings: Genetic testing has become a cornerstone of clinical care for children with sensorineural hearing loss. Recent studies have shown the efficacy of gene panels and exome sequencing for any child with sensorineural hearing loss. Recent findings have underscored the importance of a diagnosis in clinical care. Clinical trials for gene therapy for hearing loss have begun.
Summary: Genetic testing has become critical for personalized care for children with hearing loss. Recent studies have shown a 43% overall diagnostic yield for genetic testing for pediatric hearing loss, though the diagnostic yield may range from 10 to 60% depending on clinical features. Syndromic diagnoses comprise 25% of positive genetic tests for pediatric sensorineural hearing loss. While diagnostic yield is lower for children with unilateral or asymmetric sensorineural hearing loss, the likelihood of syndromic hearing loss finding is higher. An early and accurate genetic diagnosis is required for participating in clinical trials for gene therapy for hearing loss.
期刊介绍:
Current Opinion in Otolaryngology & Head and Neck Surgery is a bimonthly publication offering a unique and wide ranging perspective on the key developments in the field. Each issue features hand-picked review articles from our team of expert editors. With eleven disciplines published across the year – including maxillofacial surgery, head and neck oncology and speech therapy and rehabilitation – every issue also contains annotated references detailing the merits of the most important papers.