Simple Workflow Changes Double Genetic Testing Referrals for Children With Hearing Loss
A University of Miami Miller School of Medicine study shows that standardized clinic referral protocols can significantly increase genetics referrals and completed visits for pediatric hearing loss.
A University of Miami Miller School of Medicine interdisciplinary research team found that a low‑cost, standardized clinic workflow can significantly increase genetic testing referrals for pediatric hearing loss, helping close the gap between national guidelines and real‑world care.
In a quality improvement study conducted at the University of Miami Children’s Hearing Program that drew upon the talents of researchers from the Miller School’s Mailman Center for Child Development and the Department of Otolaryngology—Head and Neck Surgery, investigators found that implementing a structured genetics referral protocol nearly doubled documented referrals and more than tripled completed genetics appointments for children diagnosed with hearing loss.
University of Miami Miller School of Medicine authors included:
• Jennifer Coto, Ph.D., assistant professor of pediatrics and otolaryngology
• Ivette Cejas, Ph.D., professor of clinical otolaryngology, pediatrics and psychology and director of family support services for the Children’s Hearing Program
• Xue Zhong Liu, M.D., Ph.D., Leonard M. Miller Professor of Otolaryngology and vice chairman of research in the Department of Otolaryngology–Head and Neck Surgery
• Chrisanda Sanchez, Au.D., associate professor of audiology and director of the Children’s Hearing Program
• Valerie Yunis, senior research associate in the Department of Otolaryngology–Head and Neck Surgery
“Genetic testing plays a critical role in understanding the underlying causes of pediatric hearing loss, but too often referrals fall through because the process is inconsistent,” said Dr. Coto. “Our findings show that relatively simple, standardized changes in clinic workflow can have a meaningful impact on whether children and families actually reach genetics services.”
Hearing loss is the most common sensory disorder in children. Genetic factors are estimated to contribute to 50%–70% of pediatric cases. Genetic evaluation can clarify cause, guide treatment planning (including cochlear implant decisions) and prompt surveillance for syndromic conditions that may affect vision, kidneys, thyroid or the heart. Yet despite professional recommendations, referral rates for genetic services remain inconsistent across clinical settings.
Study Design: A Miller School Quality Improvement Initiative in Routine Clinical Care
The study, published in Children, used a retrospective chart review to compare outcomes before and after the Miller School team implemented a standardized genetics referral protocol within the University of Miami’s otology and audiology practice.
Researchers reviewed charts for 202 patients under age 17 diagnosed with hearing loss:
• Phase 1 (pre‑intervention): January–August 2023 (n=88)
• Phase 2 (post‑intervention): September 2023–September 2024 (n=114)
Children with unilateral or bilateral sensorineural, mixed or chronic conductive hearing loss were included. Transient otitis media was excluded. The team tracked demographics, referral modality (note documentation, routed note to genetics or referral order), appointment status (completed/no‑show/canceled) and whether a genetic mutation was identified.
The Intervention: Standardized Genetics Referral Pathways at Diagnosis
After phase 1 analysis, the Miller School team introduced a standardized protocol requiring that newly diagnosed children be referred using one of three predefined pathways embedded into clinical workflow. Providers were instructed to complete three steps at the diagnostic visit:
• Document a genetics referral in the clinical note
• Route the note to the genetics team
• Place an electronic referral order
To improve consistency, the team provided brief provider education, distributed reminder badge cards, posted step‑by‑step instructions at workstations and developed an EMR smart phrase for standardized documentation.
Results: Documented Genetics Referrals Nearly Doubled
Following implementation, the proportion of patients with any documented genetics referral increased from 35.2% in Phase 1 to 68.4% in Phase 2, a statistically significant rise.
“Families benefit most when genetic evaluation is introduced early and consistently after a hearing loss diagnosis,” said Dr. Cejas. “Standardizing referrals helps ensure that families receive timely information, counseling and support as they navigate next steps.”
The study also found improvement across each referral modality:
• Referral order placed: 18.2% to 46.5%
• Referral documented in the clinical note: 34.1% to 64.0%
• Clinical note routed to genetics: 5.7% to 34.2%
The workflow changes translated into higher completion of genetic evaluation. Genetics appointment completion increased from 11.4% (Phase 1) to 38.6% (Phase 2).
The percentage of patients in whom a genetic mutation was identified also increased substantially, from 4.6% before the protocol to 28.2% after implementation.
“What this study demonstrates is that the barrier is not always access to genetic services,” said Dr. Liu. “It is often the referral process itself. When clinicians are supported with clear, standardized tools, follow‑through improves substantially.”
Why It Matters: A Scalable Path Toward Precision Care
Genetic testing is widely recommended in pediatric hearing loss because it can improve etiologic diagnosis, provide recurrence‑risk counseling for families and inform anticipatory monitoring for syndromic comorbidities. By standardizing referrals at the point of diagnosis and supporting clinicians with simple EMR tools and reminders the initiative improved consistency across providers and reduced reliance on ad hoc practices. The study also highlighted the value of multidisciplinary collaboration within hearing loss care teams.
“By embedding genetics referrals directly into the diagnostic visit, we were able to reduce missed opportunities and better align everyday clinical practice with national recommendations for hearing loss care,” said Dr. Coto.
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Tags: Children's Hearing Program, Department of Pediatrics, Department of Psychology, Dr. Chrisanda Sanchez, Dr. Ivette Cejas, Dr. Jennifer Coto, Dr. Xue Zhong Liu, hearing, hearing loss, Mailman Center for Child Development, pediatric hearing loss, pediatrics