Part 19 – Genetic Referrals upon Hearing Loss Diagnosis
By the Oklahoma Audiology Taskforce & OU Genetics

The American Academy of Pediatrics (AAP) recommends referring for genetic medical evaluations to determine etiology and identify related conditions. To understand what physicians think, know, and feel about newborn hearing screening and follow up, the Oklahoma Newborn Hearing Screening Program (NHSP)/Early Hearing Detection and Intervention (EHDI) system partnered with the National Center for Hearing Assessment and Management (NCHAM) at Utah State University, Boys Town National Research Hospital, and the University of Oklahoma Health Sciences Center – Department of Communication Sciences and Disorders to conduct a nationwide survey with state specific information. According to Knowledge, Attitudes and Practices of Physicians study, only 8.9% of Oklahoma medical providers refer to a geneticist or genetic services.

To ensure Oklahoma providers are aware of genetic services in Oklahoma and the importance of referring children with hearing loss for these services, the Department of Pediatrics, Section of Genetics at the University of Oklahoma Health Sciences Center (OUHSC) has been asked to provide information on this important topic.

OUHSC Licensed Genetic Counselor Team
The addition of hearing screening to the state’s newborn screening program has provided an opportunity to identify children with congenital hearing loss at an optimal time. Early detection allows for intervention at a young age in the hope of preventing developmental impacts associated with early-onset hearing loss. As genetic testing is becoming increasingly less expensive and more publically discussed many parents wonder if genetic testing is right for their child; parents aren’t the only ones- many physicians are curious about the power genetic testing can hold for a family, but the fear of opening Pandora’s Box continues to be a barrier. As 95% of children with hearing loss are born to hearing parents, genetic testing may not be the first concern for parents, though practitioners should not dismiss its utility.
The link between genetics and hearing loss is nothing new, though heterogeneous in nature and often presenting clinically with an unclear etiology. Our ability to pin-point the genetic ‘culprit’ within families has improved over the last decade as our knowledge of genetic alterations responsible for both syndromic and non-syndromic hearing loss has expanded. As over 400 genetic syndromes are known to be associated with hearing loss, narrowing down to a specific gene can seem a daunting task. Next-generation sequencing (NGS) technology allows for analysis of many genes in one process, simplifying the previous approach of single-gene sequencing and genotyping. This new technology provides a cost-effective method for identifying a genetic component to hearing loss and a number of NGS tests are now available clinically. An up-to-date list of available genetic tests can be found by visiting the GeneTests or Genetic Testing Registry websites.

To learn more about the Oklahoma Newborn Hearing Screening Program, gather resources for families, or receive a copy of the previous articles in this series, please send an email to