NCT06744543

Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease

Randomized Controlled Trial to Assess EHR Prediction Model to Identify Pediatric Patients With Undiagnosed Genetic Disease"

• Status: Active Not Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 1,000 (estimated)
• Sponsor: Vanderbilt University Medical Center · Academic / Other
• Sex: All
• Age: 1 Year – 20 Years
• Healthy volunteers: Not accepted

Summary

This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray. Identifying patients at high predicted probability of needing a test in clinical settings will be examined to determine if it decreases the duration of time to testing and increases diagnostic yield. SIGHT requires only data already collected in routine clinical encounters and is calculated prior to a clinical visit at VUMC.

Conditions

• Genetic Disease
• Pediatrics
• Predictive Model
• Clinical Decision Support

Interventions

Type	Name	Description
DEVICE	SIGHT Prompted Provider Message	Among patients surpassing a 0.30 probability threshold that have a scheduled visit to pediatric primary care at VUMC, 500 will be randomized to the intervention and a SIGHT-prompted provider message will be generated.

Timeline

• Start date: 2025-03-12
• Primary completion: 2027-01-01
• Completion: 2027-02-01
• First posted: 2024-12-20
• Last updated: 2025-09-24

Locations

1 site across 1 country: United States