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Increasing Genetic Testing Uptake Through Workflow Optimization: A Quality Improvement Study in Pediatric Hearing
Jennifer Coto1,2, Julia Anne Morris2,3, Valerie Yunis2
1Department of Pediatrics, University of Miami, Miami, FL 33136, USA.
Insights
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.
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.
Background/Objectives:
Although genetic testing is recommended for pediatric hearing loss, referral rates within otology and audiology practices remain low. This study evaluated referral rates, referral pathways, and genetics appointment completion before and after implementation of a quality improvement (QI) referral protocol in an ethnically diverse pediatric cohort.
Methods:
Phase 1 (January-August 2023) included chart reviews of 88 pediatric patients with hearing loss to assess whether genetics referrals were made and completed. Data collected included demographics, referral modality (clinical note documentation, routed note to genetics, or direct referral order), and appointment status. In Phase 2 (September 2023-September 2024), a standardized referral protocol was implemented requiring all newly diagnosed patients to be referred using one of three predefined pathways. Providers received brief training and reminder cards. Chart reviews were then conducted for an additional 114 patients.
Results:
A total of 202 patients were included (Phase 1: n = 88; Phase 2: n = 114). Following protocol implementation, the proportion of patients with any documented genetics referral increased significantly (35.2% vs. 68.4%, χ2 = 22.03, p < 0.001). Referral order placement, documentation, and note routing increased across all referral modalities (all p < 0.001). Genetics appointment completion also improved significantly, from 11.4% in Phase 1 to 38.6% in Phase 2 (p < 0.001).
Conclusions:
Genetic referrals for pediatric hearing loss remain underutilized but improved substantially following implementation of a standardized referral protocol. These findings highlight the importance of optimizing referral pathways and providing ongoing provider education. QI initiatives represent a practical strategy to enhance access to genetic evaluation and support precision care.
