Technology Update SessionSession 3B Despite more than 60% of congenital sensorineural hearing loss (SNHL) being due to an underlying genetic cause, only a minority of eligible individuals obtain genetic testing. For many years, understanding the genetic etiology of SNHL was not thought to have significant clinical impact. However, evidence on how comprehensive genetic testing for SNHL may inform care has significantly expanded, leading to recommendations by multiple medical societies to include a comprehensive gene panel as part of the diagnostic workup for SNHL. Genetic testing for hearing loss may enable earlier identification of syndromic conditions, such as Usher syndrome, prior to symptom onset in other organ systems. Identification of genetic variants that are strongly associated with progression may significantly impact prognosis and treatment. A recently published study found that when families receive a genetic diagnosis, they are more likely to proceed with hearing intervention. In addition, first-in-human clinical trials for gene therapy for otoferlin gene (OTOF)-mediated hearing loss increase the need for counseling individuals and families about the genetics of hearing loss.
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