Background: In cases of congenital sensorineural hearing loss, testing for genetic etiologies and congenital cytomegalovirus (cCMV) infection have become common practice.
Aims/objectives: The purpose of this study is to determine which specific testing methodologies should be used and when.
Material and methods: We surveyed 20 practicing otolaryngologists across eighteen institutions in thirteen countries about their approach to cCMV, GJB2, and wider genetic testing.
Results: We found 90% of respondents employ all three tests, either in routine or special cases. cCMV testing is widely used, with 95% of respondents incorporating it into their clinical practice. GJB2 testing was employed by 90%. In cases with negative GJB2 test results, a majority of respondents proceeded to wider genetic screening. Test reimbursement was also examined for each test. For cCMV testing, 63.1% reported reimbursement, 68.4% reported reimbursement for GJB2 variant testing and 52.6% reported reimbursement for wider genetic screening.
Conclusions and significance: A common approach is to perform cCMV and GJB2 testing as the first tests, followed by wider genetic testing. This study offers insight into the prevalence, methodologies, and reimbursement status of these testing methodologies across multiple hearing centers and countries. Current consensus and future directions are described based on the current survey.
Keywords: Congenital hearing loss; GJB2; congenital sensorineural hearing loss; cytomegalovirus; etiology; genetic hearing loss.