Impact of Genetic Testing on Hearing Interventions

Area of Science:

• Genetics
• Audiology
• Pediatrics

Background:

• Clinical guidelines advocate genetic testing for sensorineural hearing loss (SNHL).
• Genetic diagnoses offer insights into hearing loss progression, comorbidities, and family planning.
• Genetic diagnoses may improve parental acceptance and intervention pursuit.

Purpose of the Study:

• To evaluate the association between genetic diagnoses and hearing loss intervention in children.
• To determine if genetic testing influences the uptake of hearing aids or cochlear implants.

Main Methods:

• Included children (0-18 years) with SNHL, candidates for intervention but non-users, who underwent gene panel testing.
• Univariate analyses identified predictors of hearing aid fitting or cochlear implantation.
• Multivariate logistic regression assessed demographic and clinical factors' impact on intervention.

Main Results:

• Children with a genetic diagnosis were 4.6 times more likely to undergo intervention (p=0.035).
• Bilateral hearing loss and earlier genetic testing age were associated with higher intervention likelihood.
• The study included 111 children, with 56% from underrepresented minorities and 71% non-White.

Conclusions:

• Genetic diagnoses are significantly linked to increased use of hearing aids or cochlear implantation in children with SNHL.
• Genetic testing is crucial for prognostication and informs treatment decision-making.
• Findings support clinical guidelines recommending genetic testing for SNHL evaluation.