Question
Why is genetic testing considered a critical component in the diagnostic process for children with sensorineural hearing loss?
Answer
Genetic testing is a vital part of the diagnostic process for children with sensorineural hearing loss because it provides clarity regarding the underlying cause in a significant proportion of cases. With the mapping of the human genome and advances in genetic research, it is now understood that approximately two-thirds of children with hearing loss have a genetic etiology1,2.
Identifying the specific genetic form of hearing loss can help clinicians and families understand whether the hearing loss is likely to be stable or progressive3, and whether it is associated with a syndromic condition that could affect other organ systems and require further referrals and monitoring4-6. In addition, knowing the genetic basis of hearing loss can connect families to targeted treatments7-9 or emerging gene therapy trials10, which are becoming increasingly available as our understanding of genetics grows.
Furthermore, genetic testing has significant implications for family planning and counseling. When a genetic cause is identified, families can be informed about the risk of recurrence in future children, as well as the likelihood that the affected child may pass the condition on to their own offspring10.
Despite these benefits and recommendations from medical societies11,12, genetic testing remains underutilized, with less than 20% of children with sensorineural hearing loss receiving genetic testing13. This underutilization is often due to concerns about insurance coverage, lack of awareness among healthcare providers, and uncertainty about the value of genetic information14,15. However, as the field continues to evolve, it is increasingly clear that genetic testing should be a standard part of the diagnostic workup for pediatric hearing loss, offering families answers, guidance, and hope for the future.
- Shearer AE, Hildebrand MS, Odell AM, et al. Genetic hearing loss overview. 1999 Feb 14 [Updated 2025 Apr 3]. In: Adam MP, Bick S, Mirzaa GM, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1434/
- Morton CC, Nance WE. Newborn hearing screening—a silent revolution. N Engl J Med. 2006;354(20):2151-2164.
- Carlson RJ, Walsh T, Mandell JB, et al. Association of genetic diagnoses for childhood-onset hearing loss with cochlear implant outcomes. JAMA Otolaryngol Head Neck Surg. 2023;149(3):212-222. doi:10.1001/jamaoto.2022.4463
- Gooch C, Rudy N, Smith RJ, Robin NH. Genetic testing hearing loss: the challenge of non syndromic mimics. Int J Pediatr Otorhinolaryngol. 2021;150:110872. doi:10.1016/j.ijporl.2021.110872
- Brodie KD, Moore AT, Slavotinek AM, et al. Genetic testing leading to early identification of childhood ocular manifestations of Usher syndrome. Laryngoscope. 2021;131(6):E2053-E2059. doi:10.1002/lary.29193
- Vona B. Rethinking non-syndromic hearing loss and its mimics in the genomic era. Eur J Hum Genet. 2025;33(2):147-150. doi:10.1038/s41431-024-01579-x
- Brewer CC, King KA. Genetic hearing loss: the audiologist’s perspective. Hum Genet. 2022(141): 311–314. https://doi.org/10.1007/s00439-021-02360-6
- Cali E, Dominik N, Manole A, et al. Riboflavin Transporter Deficiency. 2015 Jun 11 [Updated 2021 Apr 8]. In: Adam MP, Bick S, Mirzaa GM, et al, eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from: https://www.ncbi.nlm.nih.gov/books/NBK299312/
- De Gregorio V, Caparali EB, Shojaei A, Ricardo S, Barua M. Alport syndrome: clinical spectrum and therapeutic advances. Kidney Med. 2023;5(5):100631. doi:10.1016/j.xkme.2023.100631
- Shearer AE. Genetic testing for pediatric sensorineural hearing loss in the era of gene therapy. Curr Opin Otolaryngol Head Neck Surg. 2024;32(5):352-356.
- Liming BJ, Carter J, Cheng A, et al. International Pediatric Otolaryngology Group (IPOG) consensus recommendations: hearing loss in the pediatric patient. Int J Pediatr Otorhinolaryngol. 2016;90:251-258. doi:10.1016/j.ijporl.2016.09.016
- Li MM, Tayoun AA H, DiStefano M, et al. Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022;24(6):1392-1406. doi: 10.1016/j.gim.2022.03.018
- Qian ZJ, Chang KW, Ahmad IN, Tribble MS, Cheng AG. Use of diagnostic testing and intervention for sensorineural hearing loss in US children from 2008 to 2018. JAMA Otolaryngol Head Neck Surg. 2021;147(3):253-260. doi:10.1001/jamaoto.2020.5030
- Heyward A, Hagerty K, Lichten L, et al. The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation. J Community Genet. 2023;14(4):377-385. doi:10.1007/s12687-023-00649-9
- Cejas I, Coto J, Sarangoulis CM, Yunis V, Blanton S, Liu XZ. Parent experiences with genetic testing for pediatric hearing loss. J Genet Couns. 2025;34(3):e1986. doi:10.1002/jgc4.1986
This Ask the Expert is an edited excerpt from the course: Hewitt, J. (2025, Oct 15). Genetic Testing and Counseling as Part of the Audiologic Assessment. AudiologyOnline. https://www.audiologyonline.com/audiology-ceus/course/genetic-testing-and-counseling-as-41327
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