Testing for genetic and viral etiologies in congenital hearing loss based on a survey of cochlear implant centers: proposed HEARRING group consensus and future directions
Year: 2024
Type: article
Study design: Observational Study
Abstract: 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.
Source: Acta Oto-Laryngologica
Authors: Shin-Ichi Usami, Shin-ya Nishio, Javier Gavilán, Aanand Acharya, Abdulrahman Hagr, Luis Lassaletta, Yongxin Li, S. Sudha Maheshwari, Mohan Kameswaran, Thomas Parzefall, Chris Raine, Kristen Rak, Anne Morgan Selleck, Hinrich Staecker, Timo Stöver, Serafima Sugarova, Vedat Topsakal, Vincent Van Rompaey, Griet Mertens, Stefan Volkenstein, Christiane Völter, Wafaa Shehata-Dieler, Mario E. Zernotti, Paul Van de Heyning
Institutions: Shinshu University, Hospital Universitario La Paz, The University of Western Australia, Fiona Stanley Hospital, Fremantle Hospital, Fiona Stanley Fremantle Hospitals Group, King Saud University, Instituto de Salud Carlos III, Hospital La Paz Institute for Health Research, Centre for Biomedical Network Research on Rare Diseases, Beijing Tongren Hospital, Capital Medical University, Medical University of Vienna, Bradford Royal Infirmary, University of Würzburg, University of North Carolina at Chapel Hill, University Hospital Frankfurt, Saint-Petersburg Research Institute of Ear, Throat, Nose and Speech, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, University of Antwerp, Antwerp University Hospital, Johannes Wesling Klinikum Minden, Ruhr University Bochum, St. Elisabeth-Hospital Bochum, Universidad Católica de Córdoba, Universidad Nacional de Córdoba
Language: English
Subfield: Sensory Systems
Field: Neuroscience
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4403764157