CC BY 4.0 · Journal of Health and Allied Sciences NU
DOI: 10.1055/s-0044-1793837
Original Article

Knowledge About Genetics in Congenital Hearing Loss: A Survey Among Audiologists

Navleen Kaur
1   School of Audiology and Speech-Language Pathology, Bharati Vidyapeeth (Deemed to be University), Pune, Maharashtra, India
,
Shweta Deshpande
1   School of Audiology and Speech-Language Pathology, Bharati Vidyapeeth (Deemed to be University), Pune, Maharashtra, India
› Author Affiliations

Abstract

Introduction According to the World Health Organization, there are more than 63 million people in India who have disabling hearing loss. Hearing loss at birth can be caused due to genetic factors. Referral for genetic testing and counseling can be directly influenced by the knowledge among the audiologists. Specific guidelines and recommendations have been provided by experts in the field for competency in genetics among professionals to ensure early and appropriate management in young children with hearing loss. In India, there is limited research done on assessing audiologists' knowledge concerning the importance of genetic testing and counseling. Thus, the present study aimed to explore the knowledge about the role of genetics in congenital hearing loss among audiologists.

Method The study was conducted in two phases. Phase I included the development and validation of the questionnaire. Phase II included the administration of the questionnaire to the professionals from the field of audiology and speech-language pathology through Google Forms.

Results The study findings revealed that the knowledge level about general genetics was adequate; however, aspects related to genetic testing and syndromic and nonsyndromic congenital hearing loss were moderate. There was a statistically significant difference observed in the scores obtained by professionals who had completed Master of Science in Audiology as compared to those who had completed Bachelors in Audiology and Speech Language Pathology and Masters in Audiology and Speech Language Pathology.

Conclusion The study has highlighted the current knowledge of audiologists with respect to domains of genetic testing and syndromic and nonsyndromic congenital hearing loss. There is a need to educate audiologists working in the area of early identification and intervention about the genetic basis of hearing loss.

Authors' Contributions

N.K. contributed to the conceptualization, data curation, formal analysis, investigation, methodology, resources, software, validation, as well as the writing of the original draft and the review and editing of the manuscript. S.D. was involved in the conceptualization, data curation, formal analysis, investigation, methodology, project administration, resources, software, supervision, validation, and also contributed to the writing of the original draft and the review and editing of the manuscript.


Supplementary Material



Publication History

Article published online:
29 November 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 World Health Organization. World Report on Hearing. Geneva: World Health Organization; 2021
  • 2 Keats B, Berlin C, Gregory P. Epidemiology of genetic hearing loss. Semin Hear 2006; 27 (03) 136-147
  • 3 Martini A, Sorrentino F, Sorrentino U, Cassina M. Genetics & epigenetics of hereditary deafness: an historical overview. Audiology Res 2021; 11 (04) 629-635
  • 4 Božanić Urbančič N, Battelino S, Tesovnik T, Trebušak Podkrajšek K. The importance of early genetic diagnostics of hearing loss in children. Medicina (Kaunas) 2020; 56 (09) 471
  • 5 Shearer AE, Eppsteiner RW, Frees K. et al. Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance. Hear Res 2017; 348: 138-142
  • 6 Guttmacher AE, Porteous ME, McInerney JD. Educating health-care professionals about genetics and genomics. Nat Rev Genet 2007; 8 (02) 151-157
  • 7 American Academy of Pediatrics, Joint Committee on Infant Hearing. Year 2007 position statement: principles and guidelines for early hearing detection and intervention programs. Pediatrics 2007; 120 (04) 898-921
  • 8 Jenkins J, Blitzer M, Boehm K. et al; Core Competency Working Group of the National Coalition for Health Professional Education in Genetics. Recommendations of core competencies in genetics essential for all health professionals. Genet Med 2001; 3 (02) 155-159
  • 9 Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, Pandya A. Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear 2006; 27 (06) 732-741
  • 10 Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Association, Directors of Speech and Hearing Programs in State Health and Welfare Agencies. Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Association, and Directors of Speech and Hearing Programs in State Health and Welfare Agencies. Pediatrics 2000; 106 (04) 798-817
  • 11 Rehabilitation Council of India. Training Programme Regular Mode in the field of Speech and Hearing-Curriculum Framework. New Delhi: Government of India; 2018
  • 12 Lapham EV, Kozma C, Weiss JO, Benkendorf JL, Wilson MA. The gap between practice and genetics education of health professionals: HuGEM survey results. Genet Med 2000; 2 (04) 226-231
  • 13 Madhu H, Harinath S, Parvathi VD. Knowledge of genetics of hearing and genetic counseling among practicing audiologists. Egyptian J Med Human Genet 2023;24–39
  • 14 Vishnuram B, Prabu S, Kumar PSS, Oliver V. Genetic Knowledge among audiologist related to hearing loss: a recent study. CDHR 2021; 8: 109-116
  • 15 Ravi R, Yerraguntla K, Gunjawate DR, Guddattu V, Bellur R. Professional quality of life in audiologists and speech language pathologists working in India. J Workplace Behav Health 2016; 31 (03) 162-172
  • 16 Burton SK, Blanton SH, Culpepper B. et al. Education in the genetics of hearing loss: a survey of early hearing detection and intervention programs. Genet Med 2006; 8 (08) 510-517
  • 17 Kiray Vural B, Tomatir AG, Kuzu Kurban N, Taşpinar A. Nursing students' self-reported knowledge of genetics and genetic education. Public Health Genomics 2009; 12 (04) 225-232