This study evaluated parental knowledge of genetics of sensorineural hearing loss (SNHL) and satisfaction following pre-test consult with and without genetic counseling (GC). A survey evaluating parents' knowledge of genetics for SNHL with and without GC was administered to parents of children with SNHL who were offered genetic testing. The survey also inquired about satisfaction, and decision to pursue genetic testing. Statistical tests included Fisher-Freeman-Halton test and Mann-Whitney test. Forty-nine participants completed the survey and were seen by both otolaryngology and GC intern (ENT + GC) (n = 24) or by otolaryngology (ENT) only (n = 25). Participation groups were not randomized. There were no significant differences in demographics between groups. Participants in the ENT + GC group had higher average genetics knowledge score of 72% correct (range 22%-100%), compared to the ENT only group with 44% (range 22%-78%) (p < .001). Participants in the ENT + GC group were more likely to know the different test result possibilities (p = .002), the most common form and pathogenic variant associated with SNHL (p < .001), that only a subset of genes are evaluated (p = .004), and that genetic testing may not explain SNHL etiology (p = .013), in comparison with the ENT only group. There was no significant difference in parental satisfaction or ultimate decision to undergo testing between groups. Obtaining genetic testing plays an integral role in the diagnosis and management of SNHL in the pediatric population. Our results suggest that the addition of GC increases parent knowledge of genetics and SNHL. This knowledge allows the family to make a more informed decision as to whether or not to pursue genetic testing.
Keywords: deaf; deafness; genetic counseling; genetic testing; genetics; hearing loss; pediatric otolaryngology.
© 2021 National Society of Genetic Counselors.