Resident Physician University of California, San Francisco
Introduction: Clinical guidelines now recommend genetic testing when evaluating childhood onset sensorineural hearing loss (SNHL). Genetic diagnoses can provide parents additional information regarding anticipated hearing loss progression and possible comorbid conditions, which may increase parental acceptance of hearing loss and pursuit of subsequent intervention. This study aims to evaluate the impact of genetic testing diagnoses on hearing loss management.
Methods: We included children ages 0-18 years evaluated at one tertiary children’s hospital system for SNHL who underwent hearing loss gene panel testing and were hearing aid or cochlear implant candidates but non-users. Univariate analyses were performed with T-tests. Multivariate regression evaluated the impact of demographic and clinical factors on subsequent hearing-aid fitting or cochlear implantation.
Results: 111 children were included. Median age was 6.6 years (IQR: 15 months-13 years). 73% were underrepresented minorities, and 67% were publicly insured. Underrepresented minorities were less likely to have a known genetic variant (p < 0.01). Those diagnosed with a genetic variant were five times as likely to undergo intervention (p=0.02). Multivariate logistic regression found that obtaining a genetic diagnosis was associated with increased likelihood of intervention, while ethnicity, unilateral versus bilateral loss, and insurance type were not predictive of intervention.
Conclusion: 10-30% of children who undergo genetic testing for work-up of SNHL will be diagnosed with causative genetic variants. This proportion will only increase as more is understood about the genetics of hearing loss, particularly among underrepresented minorities. This study found that children diagnosed with a genetic variant are significantly more likely to subsequently utilize hearing aids or cochlear implantation. This suggests that receiving a genetic diagnosis is associated with subsequent utilization of hearing devices. This is the first study to identify an association between genetic diagnosis and intervention decision-making.