Detalle de: Trends in the diagnosis of paediatric sensorineural hearing loss: a scoping review of gene panels, exome and genome sequencing

Objective To review recent advances in genetic diagnosis of sensorineural hearing loss (SNHL) using gene panels, exome, and genome sequencing. Design A scoping review. Articles published from January 2022 to May 2024 on gene panels, exome, or genome sequencing for early SNHL diagnosis were reviewed. Study sample After removing duplicates and abstract and full-text review, 26 articles met inclusion criteria. Results Approximately, 60% of SNHL cases are genetic, with over 148 genes linked to non-syndromic forms and 700-800 associated but unconfirmed. Next-generation sequencing (NGS) has transformed etiologic diagnosis, with yields up to 79% depending on test and population. Exome sequencing achieves 40-60% diagnostic accuracy for bilateral SNHL and 1-5% for unilateral, rising to 18.3% with syndromic cases. However, challenges persist in cost, test performance, and variant interpretation, with newborn screening potentially missing 25-30% of SNHL cases. Conclusions Findings underscore the need for optimised screening, robust variant interpretation frameworks, and personalised counselling. Diagnostic approaches should be tailored, with NGS gene panels or exome sequencing recommended for bilateral cases and unilateral cases after excluding non-genetic causes. Genome sequencing may be pursued if no genetic cause is found, with follow-up. Integrating genetic diagnostics into standard care could improve outcomes and interventions for SNHL patients.