The Qualitative Experiences of Otolaryngologists with Genetic Services in the Evaluation of Pediatric Hearing Loss

Abstract

Genetic testing has allowed otolaryngologists to diagnose 40-65% of pediatric sensorineural hearing loss (SNHL) patients with a genetic disorder. Previous research focused on the utility of genetic testing in the workup of pediatric SNHL and otolaryngologists’ general understanding of genetics. This qualitative study explores the factors that influence otolaryngologists in the United States to initiate conversations about genetic testing with families of patients with hearing loss, describes common practices among otolaryngologists for accessing genetic services, identifies barriers to accessing genetic services, and proposes potential solutions for overcoming these barriers. Eleven (N=11) semi-structured interviews with otolaryngologists were conducted. Most participants currently in practice in the southern region, in an urban setting, at an academic practice, and have completed a pediatric otolaryngology fellowship. As part of their regular workup for pediatric SNHL, participants either offered genetic testing or a referral for a genetics evaluation. Insurance was one of the main barriers to testing, and increased genetics provider accessibility was the most frequently cited solution to increase accessibility of genetic services such as evaluation, counseling, and testing. Difficulty acquiring insurance coverage and unfamiliarity with the genetic testing process were the most common reasons otolaryngologists preferred to refer patients to genetics clinics for genetic testing. Multidisciplinary hearing loss clinics may increase the overall accessibility of genetic services. Otolaryngologists recognize the importance and utility of genetic testing; however, a lack of genetic specific skills, knowledge, and resources might make it difficult for them to facilitate testing.