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

TL;DR

A standardized referral protocol significantly increased genetic testing for children with hearing loss in a clinic setting.

Contribution

Implementation of a quality improvement protocol with predefined referral pathways and provider education significantly boosted referral and appointment completion rates.

Findings

Documented referral rates for genetics increased from 35.2% to 68.4% after protocol implementation.

Genetics appointment completion improved from 11.4% to 38.6% following the new referral protocol.

Referral consistency across providers and modalities increased significantly.

Abstract

What are the main findings?
Implementation of a standardized genetics referral protocol more than doubled documented referral rates for children with hearing loss in an otology and audiology clinic.Use of predefined referral pathways increased consistency in referral practices across providers and referral modalities.

Implementation of a standardized genetics referral protocol more than doubled documented referral rates for children with hearing loss in an otology and audiology clinic.

Use of predefined referral pathways increased consistency in referral practices across providers and referral modalities.

What is the implication of the main finding?
Structured referral pathways and brief provider education can meaningfully reduce gaps between guideline recommendations and real-world clinical practice.Quality improvement strategies offer a scalable approach to improving access to genetic evaluation and advancing precision care for pediatric hearing loss.

Structured referral pathways and brief provider education can meaningfully reduce gaps between guideline recommendations and real-world clinical practice.

Quality improvement strategies offer a scalable approach to improving access to genetic evaluation and advancing precision care for pediatric hearing loss.

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.