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.
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| Title: | 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. |
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| Authors: | Usami, Shin-Ichi (AUTHOR), Nishio, Shin-ya (AUTHOR), Gavilán, Javier (AUTHOR), Acharya, Aanand (AUTHOR), Hagr, Abdulrahman (AUTHOR), Lassaletta, Luis (AUTHOR), Li, Yongxin (AUTHOR), Maheshwari, S. Sudha (AUTHOR), Kameswaran, Mohan (AUTHOR), Parzefall, Thomas (AUTHOR), Raine, Chris (AUTHOR), Rak, Kristen (AUTHOR), Selleck, Anne Morgan (AUTHOR), Staecker, Hinrich (AUTHOR), Stöver, Timo (AUTHOR), Sugarova, Serafima (AUTHOR), Topsakal, Vedat (AUTHOR), Van Rompaey, Vincent (AUTHOR), Mertens, Griet (AUTHOR), Volkenstein, Stefan (AUTHOR) |
| Source: | Acta Oto-Laryngologica. Nov/Dec2024, Vol. 144 Issue 11/12, p602-609. 8p. |
| Subjects: | Auditory perception testing, Cochlear implants, Consensus (Social sciences), Academic medical centers, Health insurance reimbursement, Sensorineural hearing loss, Cytomegalovirus diseases, Descriptive statistics, Surveys, Genetic testing, Disease complications |
| Geographic Terms: | California |
| Abstract (English): | 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. [ABSTRACT FROM AUTHOR] |
| Abstract (Chinese): | 对于先天性神经性听力损失病例, 检测遗传病因和先天性巨细胞病毒 (cCMV) 感染已成为常见做法。 本研究旨在确定应使用哪些特定的测试方法以及何时使用。 我们调查了 13 个国家/地区18个机构的20名耳鼻喉科执业医师, 了解他们对cCMV、GJB2和更广泛的基因检测的方法。 我们发现 90% 的受访者在常规或特殊情况下都使用这三种测试。cCMV测试被广泛使用, 95% 的受访者将其纳入临床实践。90% 的人使用了 GJB2 测试。在 GJB2 测试结果为阴性的情况下, 大多数受访者继续进行更广泛的基因筛查。还检查了每项测试的测试报销情况。对于 cCMV 检测, 63.1% 的人报告了报销, 68.4% 的人报告了 GJB2 变体检测的报销, 52.6% 的人报告了更广泛的基因筛查的报销。 一种常见的方法是先进行 cCMV 和 GJB2 检测, 然后进行更广泛的基因检测。本研究深入了解了这些检测方法在多个听力中心和国家/地区的流行程度、方法和报销状况。根据当前调查描述了当前共识和未来方向。 [ABSTRACT FROM AUTHOR] |
| Copyright of Acta Oto-Laryngologica is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
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| 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. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 00016489 |
| DOI: | 10.1080/00016489.2024.2414803 |
