Genetic Inclusion by Virtual Evaluation

Not Applicable

Recruiting

• Conditions: Multiple Congenital Anomaly; Neurodevelopmental Disorders; Birth Defects
• Interventions: Diagnostic Test: Whole genome sequencing (WGS)

• Registration Number: NCT05318222
• Lead Sponsor: Baylor College of Medicine

Brief Summary

This study aims to transform the current clinical practice paradigm by leveraging an internally designed web-based model of delivery of care called Consultagene to provide remote evaluation and genomic sequencing for improving genetic health of less resourced children with rare disorders living along the Texas-Mexico border.

Detailed Description

Inadequate access to genetics evaluation and genomic testing in the Hispanic minorities living along the Texas-Mexico has marginalized the most vulnerable pediatric group. In this study, we will (1) implement a virtual web-based service, called Consultagene for simplifying patient pathways and deliver virtual genetics evaluation in Rio Grande Valley (RGV) (2) provide rapid genetic diagnoses through whole genome sequencing and interpretation of diagnostic studies for medical decision-making and improving health outcomes for the minorities, and (3) build genomic competency of front-line healthcare providers through education and machine learning to expedite referral of pediatric patients with suspected rare diseases for shortening diagnostic odyssey.

Study Timeline

• Study First Submitted: 2022-03-31
• Study First Submitted QC: 2022-03-31
• Study First Posted: 2022-04-08
• Study Start: 2022-06-01
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-28
• Last Update Posted: 2025-01-30
• Primary Completion: 2027-01-31
• Study Completion: 2027-01-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

Pediatric patients with undiagnosed rare genetic diseases residing in the Rio Grande Valley and El Paso in Texas

Exclusion Criteria

Children with known genetic diseases

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
WGS arm	Whole genome sequencing (WGS)	All 200 patients recruited will undergo WGS

Primary Outcome Measures

Name	Time	Method
Time to diagnosis	12 months

Trial Locations

Locations (1)

University of Texas Rio Grande Valley; 🇺🇸 Edinburg, Texas, United States