4 major shifts in genetic pediatric hearing loss care: A historical look-back
Industry Buzz
Testing for CMV is not yet mandated [everywhere], but many birth hospitals are recognizing the need and incorporating it into protocol. There is no database of results for tracking, however. The pediatricians are in a unique position to ensure that CMV testing is ordered [and] to monitor results.
—Shelley Duncan, AuD
Genetic pediatric hearing loss care changed more in the past two decades than in the prior century. The shift started with detection, and has now moved toward etiology-driven therapy.
This transition reframed hearing loss from a primarily rehabilitative condition to a biologically stratified disease with implications for prognosis, targeted intervention, and neurodevelopmental timing. Ahead: The four shifts that define this evolution.
Shift 1: Universal newborn screening became the default entry point
Before widespread screening, diagnosis often followed parental concern about speech delay. Universal newborn hearing screening moved identification into the first days of life.
The pediatric medical home guidance from the AAP promoted early identification to prevent the downstream effects of late detection.
Screening did more than find infants. Screening built systems, including EHDI programs, referral pathways, and early intervention pipelines. Yet screening stayed physiologic: It rarely answered “why.”
Related: The evolution of dual-AAV strategies for congenital hearing loss: From concept to clinical potentialShift 2: Cochlear implants moved earlier and became standard for profound congenital loss
The next major era centered on devices. Cochlear implants expanded their criteria for candidacy, and usage shifted toward earlier implantation.
As outcomes data grew, practice moved toward intervention in infancy for severe-to-profound bilateral loss. This device era delivered major gains in spoken language outcomes for many children.
At the same time, outcome variability forced a harder question: Why do similar audiograms yield different functional performance? Etiology sits at the center of that spread.
“The bar has been raised pretty high with cochlear implants, since many children have such great outcomes," says Shelley Duncan, AuD, audiologist at Akron Children's. "Optimal benefit is possible when it is given early, and when families are fully committed to consistent device use and participating in intensive hearing and language therapy. [...] Outcomes are more variable when children have perfectly normal hearing in one ear and "single-sided deafness" in the other ear. Some children really like having a cochlear implant in that case, and others do not—we're still trying to learn who to best predict will be most successful in that scenario.”
Shift 3: Genetics moved from niche to routine evaluation
By the late 2000s, pediatric otolaryngologists were already engaging with genetic testing, but use was inconsistent.
A 2007 survey assessed pediatric otolaryngologists’ use of genetic testing in prelingual SNHI evaluation, highlighting early adoption mixed with variation. []
Guideline work then accelerated. A 2022 clinical practice resource published in Genetics in Medicine outlined etiologic evaluation approaches and underscored the role of genetic testing in hearing loss diagnosis and management. []
The growth of multigene panels, improved sequencing, and falling costs made testing practical. The barrier shifted from “test availability” to “system integration.”
With this shift, treatment could be aimed at the causative mechanism. OTOF-related DFNB9 became a leading example because otoferlin loss produces a synaptic transmission defect in inner hair cells.
Clinical reporting began to describe the use of gene therapy in restoring hearing in children with OTOF mutations. Reuters reported in 2024 on a Lancet study in which hearing was restored in five of six children in a trial. []
In commenting on the study, Zheng-Yi Chen, DPhil, of the Massachusetts Eye and Ear Infirmary, and one of the investigators, emphasized the neurodevelopmental urgency in hearing restoration. “If children are unable to hear, their brains can develop abnormally without intervention,” he said. []
Related: Advances in gene therapy: Mapping the treatment landscape, from hematology to hearing lossShift 4: Counseling moved from device selection to prognosis, surveillance, and family planning
Genetic diagnosis changes counseling content. A gene result informs recurrence risk, syndromic surveillance, progression risk, and treatment planning. Yet counseling capacity has remained limited.
A qualitative study among pediatric otolaryngologists on genetic services described real-world friction points, including access and logistics. []
“Pediatricians are the first point of connection and communication for families. When they convey the need to follow up with an audiologist quickly for the hearing assessment, families often better understand the importance of timing," Dr. Duncan says. "Testing for CMV is not yet mandated in Ohio, but many birth hospitals are recognizing the need and incorporating it into their protocol. There is no database of results for tracking, however. The pediatricians are in a unique position to ensure that CMV testing is ordered if it did not take place at the birth hospital, and to monitor results as they are returned from the lab.”