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Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

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Increasing Genetic Testing Uptake Through Workflow Optimization: A Quality Improvement Study in Pediatric Hearing

Jennifer Coto^1,2, Julia Anne Morris^2,3, Valerie Yunis²

¹Department of Pediatrics, University of Miami, Miami, FL 33136, USA.

Children (Basel, Switzerland)

|February 27, 2026

Summary

Implementing a quality improvement (QI) protocol significantly boosted genetics referrals and appointment completion for pediatric hearing loss patients. This strategy enhances access to genetic evaluation and supports precision care.

Keywords:

genetic testing hearing loss pediatrics quality improvement

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Area of Science:

Genetics
Pediatric Otolaryngology
Quality Improvement Science

Background:

Genetic testing is crucial for pediatric hearing loss, yet referral rates are low.
Existing referral pathways in otology and audiology are often inefficient.
Underutilization of genetic services impacts diagnosis and care for children with hearing loss.

Purpose of the Study:

To evaluate the impact of a quality improvement (QI) referral protocol on genetics referral rates and appointment completion.
To assess referral pathways and their effectiveness in a diverse pediatric cohort.
To improve access to genetic evaluation for pediatric hearing loss.

Main Methods:

A two-phase study involving chart reviews of pediatric patients with hearing loss.
Phase 1: Assessed baseline referral rates and completion (n=88).
Phase 2: Implemented a standardized QI referral protocol with provider training and assessed outcomes (n=114).

Main Results:

The proportion of patients with documented genetics referrals significantly increased from 35.2% to 68.4% post-protocol.
All referral modalities, including order placement and routing, showed significant improvement (p < 0.001).
Genetics appointment completion rates rose significantly from 11.4% to 38.6% (p < 0.001).

Conclusions:

A standardized QI referral protocol substantially improved genetics referrals and appointment completion for pediatric hearing loss.
Optimizing referral pathways and continuous provider education are vital for enhancing genetic service utilization.
QI initiatives offer a practical approach to improve genetic evaluation access and advance precision care in pediatric audiology.