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Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort

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Key Points Question What is the association between rates of genetic diagnosis and sociodemographic and clinical characteristics in children with sensorineural hearing loss, and how often are these diagnoses associated… Click to show full abstract

Key Points Question What is the association between rates of genetic diagnosis and sociodemographic and clinical characteristics in children with sensorineural hearing loss, and how often are these diagnoses associated with changes in clinical management? Findings In this cohort study of 426 children, those who were older, had more medical comorbidities, identified as being from an underrepresented minority group, had late-identified hearing loss (passed newborn hearing screen), and/or had unilateral hearing loss were less likely to receive a genetic diagnosis; all other sociodemographic and audiologic factors were not significantly associated with genetic diagnosis rates. Thirty-two of 109 children (29.4%) received genetic diagnoses that was associated with subsequent changes in clinical management. Meaning These findings may help improve patient counseling and shared decision-making for patients and families who are deciding whether to obtain genetic testing.

Keywords: hearing; hearing loss; genetic diagnosis; cohort; sensorineural hearing

Journal Title: JAMA Network Open
Year Published: 2022

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