Virtual Platforms for Genetics Evaluation in the Medically Underserved
Baylor College of Medicine
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.
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 healthca…
Eligibility
- Age range
- 0–18 years
- Sex
- All
- Healthy volunteers
- Yes
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
Interventions
- Diagnostic TestWhole 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
Location
- University of Texas Rio Grande ValleyEdinburg, Texas