Parent experiences with genetic testing for pediatric hearing loss

Abstract

The purpose of the current study was to assess parent perceptions and experiences of genetic testing, as well as barriers for not undergoing testing in a sample of families of children with hearing loss. A 44‐item questionnaire, The Parent Perception of Genetic Testing Questionnaire developed by the research study team was administered. Participants were recruited from a pediatric otolaryngology/audiology practice and social media. A total of 146 parents of children with hearing loss participated. Approximately 47.6% of the children in our sample underwent genetic testing, 44.8% did not, and 7.6% of parents were unsure. For those that did not undergo testing, reasons included: unaware (6.2%), not interested (8.9%), cost (8.9%), time (3.4%), fearful of results (2.7%), and never offered (15.1%). For those that did undergo testing, over half of the parents reported that they did not receive counseling before (55.1%) and 41.7% reported they received counseling after the testing. Furthermore, parents were confused about the results with 18.3% reporting they were Very Confused, 28.3% Somewhat Confused, 20% A Little Confused, and 33.3% Not Confused at All about the variant of uncertain or unknown significance. Notably, less than half of parents (43.4%) remembered what they were told about the mode of inheritance. Overall, our study highlighted the low adoption rate of genetic testing and lack of integration into standard of care for otology/audiology practices. Collaboration between hearing healthcare professionals and geneticists is warranted to determine how to reduce barriers to access while improving pre‐ and post‐counseling.