Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness

Abstract

Purpose: Uncorrected hearing loss can result in detrimental sequelae. Research addressing clinical presentation and genetic testing would inform clinical decision making. Method: A retrospective chart review of 96 patients aged 1 month to 46 years (median age = 6 years) diagnosed with hearing loss or deafness and who underwent genetic testing at University of Rochester Medical Center from 2011 to 2021. Chi-square and Fisher's exact tests examined the relationship between a diagnostic positive genetic test result and various characteristics of hearing loss, including congenital ( n = 52), noncongenital ( n = 34), prelingual ( n = 53), postlingual ( n = 33), progressive ( n = 13), not progressive ( n = 47), bilateral ( n = 67), unilateral ( n = 26), sensorineural ( n = 68), conductive ( n = 14), mixed ( n = 5), syndromic ( n = 10), and nonsyndromic ( n = 87) hearing loss. We also examined the number of patients with presence of developmental disabilities ( n = 35), having a first-degree relative with hearing loss ( n = 19), having hearing aids or cochlear implants ( n = 45), and having a multisystem presentation prior to diagnosis ( n = 45). Results: Patients with sensorineural hearing loss (44.1%) had significantly more diagnostic positive results than those with mixed (0%) or conductive hearing loss (21.4%), p = .004. However, significantly fewer patients with disabilities (19.4%) had diagnostic positive tests than those without disabilities (43.3%), p < .05. More patients with a multisystem presentation were also found to have syndromic causes of hearing loss (23.3%) than patients who did not have a multisystem presentation, p < .05. Conclusions: Our study suggests a significant association between sensorineural type of hearing loss and a diagnostic positive genetic test result, while the presence of disabilities was significantly associated with a nondiagnostic genetic test result. Knowledge of these findings is critical for understanding the cause of the hearing loss, identifying other associated symptoms, and determining risk to family members.