Purpose: The purpose of this study was to assess primary health care providers’ knowledge and use of genetic services for children whose hearing screening indicates they may be deaf/hard of hearing (D/HH) and identify areas in which health care providers can be supported to increase family education and referral of families for genetic consultation.
Methodology: A survey was developed on current practices, knowledge, and perceived beliefs regarding genetic education and referrals for deafness. The surveys were distributed to pediatricians, family medicine physicians, nurse practitioners, and physician assistants in DC, DE, MD, NJ, NY, PA, VA, and WV.
Results: Among 266 respondents, 80% were uninformed about Early Hearing Detection Intervention (EHDI) 1-3-6 guidelines prior to taking the survey. Approximately 55% were not confident about the genetic causes of deafness, 44% rarely consulted genetics professionals, 41% had not referred families to genetics, and 37% were not confident about the importance of genetic referrals.
Conclusions: Integrated, targeted, and user-friendly genetics education strategies in the existing EHDI framework are needed to ensure adequate awareness and delivery of genetics services for D/HH children.
Barrett, T. S. Wylie, A. Vogel, B. Sanghavi, K. Raspa, M. Aveni, K. P. Tullis, K. Caggana, M. White, K. R. & Bodurtha, J. (2018). Where Do We Go From Here? The Need for Genetic Referrals in Patients who are Deaf or Hard of Hearing: Findings from a Regional Survey. Journal of Early Hearing Detection and Intervention, 3(1), 36-53. DOI: 10.26077/egtr-0805
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