NCT05318222

Genetic Inclusion by Virtual Evaluation

Virtual Platforms for Genetics Evaluation in the Medically Underserved

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 200 (estimated)
• Sponsor: Baylor College of Medicine · Academic / Other
• Sex: All
• Age: 1 Day – 18 Years
• Healthy volunteers: Accepted

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.

Conditions

• Birth Defects
• Multiple Congenital Anomaly
• Neurodevelopmental Disorders

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Whole genome sequencing (WGS)	WGS will identify copy number variations (CNVs), single nucleotide variants (SNVs), as well as triplet repeat disorders in children with rare diseases

Timeline

• Start date: 2022-06-01
• Primary completion: 2027-01-31
• Completion: 2027-01-31
• First posted: 2022-04-08
• Last updated: 2025-01-30

Locations

1 site across 1 country: United States