March 13-15, 2016 • San Diego, CA


3/15/2016  |   3:45 PM - 4:15 PM   |  Topical Session 8   |  Royal Palm 5/6

Integrating genetics in the overall hearing loss service continuum. Considering 1-3-6- “9”

Hearing loss (HL) affects 2-3/1,000 newborns. Given the evidence of language acquisition critical period, Early Hearing Detection and Intervention (EHDI) programs support families with children with HL and their providers in appropriate screening (by the age of 1 month), diagnostic (3 months) and intervention services (6 months). ~50% of infants with nonsyndromic HL have identifiable gene changes in connexin 26 and/or 30 (GJB2/GJB6). Many other HL-related syndromes and genes have been identified. Families may benefit from increased understanding of genetics and timely HL genetic testing. Based on the available information, adding by “9” (months) to the 1-3-6 goals could serve as a reminder to inform families and providers about genetic information related to HL and integrate referral(s) for genetic HL evaluation in the EHDI process and other childhood referrals. Stakeholder discussions suggested that few EHDI programs communicate the importance and availability of genetics referrals to families and providers. NYMAC recognized a need of families and providers to better integrate genetic awareness, education, and services in HL in a timely way. HL-genetics needs assessment efforts included literature review including prior NCHAM surveys, survey of NYMAC EHDI coordinators, survey of genetics professionals as a NYMAC subset of national survey by National Coordinating Center, discussions with AAP – EHDI Chapter Champions, Leadership Education in Neurodevelopmental and Related Disabilities (LEND) faculty, and other national experts on HL. Genetics professionals’ survey findings indicated that 90/94 (95.7%) respondents thought parents of a child with congenital HL without dysmorphic features and/or anomalies should be offered a genetics evaluation. 36/58 (62%), 36/52 (69.2%), and 38/49 (77.6%) respondents did not receive any referrals in a year from audiologists, newborn screening follow-up teams, and birth hospitals respectively. We anticipate that this session will be helpful to stakeholders interested in integrating genetics services and improving services for families with hearing loss.

  • • Identify unmet needs of families, physicians and health care providers related to genetics services for children in the Hearing Loss (HL) screening, diagnosis, and referral continuum.
  • • Determine areas where effective assistance can be provided to physicians and health care providers to manage genetic referrals for hearing loss.
  • • Discuss strategies to improve education or understanding about genetics and coordination of referral for genetic services by 9 months considering the 1-3-6 guidelines and integration in the diagnosis of HL throughout childhood.

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Joann Bodurtha (Primary Presenter), McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, jbodurt1@jhmi.edu;
Dr. Joann Bodurtha is a Professor of Pediatrics and Oncology at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine. Dr. Bodurtha co-directs NYMAC. Dr. Bodurtha’s career goals are to help make genetics work to help people, improve health and well-being in families, and assist communities to be more welcoming to all people.


Financial - No relevant financial relationship exist.

Nonfinancial - No relevant nonfinancial relationship exist.