Physicians share a 'wish list' for treating pediatric genetic hearing loss
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A newborn screen referral should be a time-sensitive coordination work among general pediatricians. Quick audiology appointments, effective family instructions, and non-use of wait-and-see language significantly enhance the downstream language outcome.
—Rron Bejtullahu, MD
Pediatric genetic hearing loss care sits in a strange place. Newborn screening finds many infants early, cochlear implants and hearing aids deliver major benefit, and we even have genetic testing and gene therapy trials now showing hearing restoration in select subtypes.
Related: Advances in gene therapy: Mapping the treatment landscape, from hematology to hearing lossYet, day-to-day practice still runs into the same gaps: delayed identification, uneven access to genetics, and fragmented follow-up.
The #1 thing physicians want: Earlier identification, more reliable, more universal
Specialists keep coming back to the same first ask: Find the cause earlier.
Lawrence Lustig, MD, framed the urgency in a clinical interview tied to OTOF gene therapy work. “Now that we have a treatment for genetic deafness,” he said, “our hope is that this will spur universal genetic testing in all kids with hearing loss…” []
Faster, routine genetic diagnosis after congenital bilateral SNHL confirmation is the need of the hour. “Because timing is the intervention. A perfect result that arrives too late has limited value," says Jeremy Woods, MD, board-certified in pediatrics.
Guidelines already point toward genetics as part of etiologic workup. The Joint Committee on Infant Hearing (JCIH), the American College of Medical Genetics (ACMG), the American Academy of Pediatrics (AAP), the American Speech-Language-Hearing Association (ASHA), and The International Pediatric Otolaryngology Group (IPOG) all recommend a multidisciplinary care model of HL including early referral for genetic evaluation. []
The gap is workflow. Testing still gets delayed by referral bottlenecks, insurance friction, limited genetic counseling access, and uncertainty over “who owns” the order. A qualitative study of otolaryngologists describes barriers tied to ordering and using genetic testing in pediatric hearing loss evaluation. []
“A newborn screen referral should be a time-sensitive coordination work among general pediatricians. Quick audiology appointments, effective family instructions, and non-use of wait-and-see language significantly enhance the downstream language outcome," Rron Bejtullahu, MD, says.
Related: The diagnosis gap in pediatric hearing loss: Why one-size-fits-all protocols fall shortWish list item 2: Move genotype thinking upstream into newborn pathways
Newborn physiologic screening can find auditory dysfunction. But screening misses delayed-onset genetic loss and does not label etiology.
A study in China, reported by the American Academy of Audiology, used expanded genetic screening with targeted sequencing in 7,500 newborns. Of these, 150 were classified as genetically positive for hearing-loss genes. The authors made the point that limited genetic screening alone would have missed these infants. []
Most programs still rely on OAE and automated ABR, then route screen-positive infants to diagnostic audiology. While these protocols work for detection, they do not identify the cause.
The question for clinicians now is whether newborn screening should include a genetic component for at-risk groups, or broader population panels once evidence and economics align.
A policy-level signal showed up in the UK Kingdon Review of children’s hearing services. [] The continued emergence of treatments for congenital infection and genetic disorders related to hearing loss underscores the need for accurate and timely diagnosis and referral. Already there has been progress in gene therapy for OTOF-related congenital deafness.
Wish list item 3: Expand access to genetic testing and counseling
An update on pediatric hearing loss management, published in the AAO-HNS Bulletin, supports the role of otolaryngologists in ordering testing, stating, “Comprehensive otolaryngologists should be able to order genetic testing, particularly given that most tests are now covered by insurance.” []
Although coverage varies by payer and region, clinical systems often treat genetic testing as a separate lane. Families face delays when otology defers to genetics, genetics schedules months out, and audiology sits between.
In addition, barriers related to access and reimbursement can prevent some parents from pursuing genetic evaluation for their child.
“We should check at the 2-week well visit that the audiology appointment was completed. If not, then I think we should follow up until it is done, since it is crucial to rule out genetic disorders for congenital hearing loss as soon as possible," says Sumaira Shakir, DO, associated with Infina Health.
Wish list item 4: Match counseling capacity to demand
Pre-test counseling improves understanding and sets expectations. A study in pediatric otolaryngology clinics found that the knowledge parents gained from pre-test genetic counseling could help them make more informed decisions. []
The system-wide issue is staffing. Many centers lack enough genetic counselors with hearing-loss expertise.
A practical “ideal state” looks like this:
Audiology: Confirms phenotype and functional measures, including ANSD features when present
ENT: Evaluates candidacy for imaging, surgery, and trial referral when relevant
Genetics: Orders testing early, interprets results, and guides syndrome surveillance
Speech-language pathology: Starts early language planning tied to family goals
Early intervention: Coordinates services and tracks milestones
A shared registry-style follow-up tracks thresholds, speech perception, language development, and school function.
Related: From devices to biology: Rethinking congenital hearing loss care