The Genetic Revolution Is Here: A Practical Guide to Genetics of Sensorineural Hearing Loss

PROGRAM DESCRIPTION: Sensorineural hearing loss (SNHL) affects 1:500 infants and often has a genetic etiology. For many years, understanding the genetic etiology of sensorineural hearing was not thought to have significant clinical impact. However, over the past 5-10 years, the availability and diagnostic power of comprehensive genetic testing for SNHL has significantly expanded the clinical impact of hearing-loss genetics, as demonstrated in recent published studies: when families receive a genetic diagnosis, they are more likely to proceed with hearing intervention; hearing-loss gene panel testing frequently reveals syndromic associations, such as Usher syndrome, decades before symptoms manifest, enabling early identification; and identification of genes such as SLC26A4 that are strongly associated with progression significantly impacts prognosis and treatment. Most recently, first-in-human clinical trials for gene therapy for otoferlin-associated hearing loss heighten the necessity that otolaryngologists understand and engage in counseling families about hearing-loss genetics. The goal of this session will be to teach audience members about 1) the evidence for clinical impact of genetic diagnosis in SNHL; 2) how to order and interpret comprehensive hearing-loss genetic testing, independently and in collaboration with medical geneticists; and 3) how to counsel families on hearing-loss genetics and gene therapy. With this knowledge, otolaryngologists will be armed with sufficient knowledge to help families of children with SNHL navigate this rapidly evolving field.