Genetic Inclusion by Virtual Evaluation (GIVE)

Baylor College of Medicine

Status: Enrolling

Conditions: Multiple Congenital Anomaly; Neurodevelopmental Disorders; Birth Defects

Treatments: Diagnostic Test: Whole genome sequencing (WGS)

Study type: Interventional

Funder types: Other

Identifiers

NCT05318222

H-50430

Details and patient eligibility

About

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.

Full 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.

Enrollment: 200 estimated patients

Sex: All

Ages: 1 day to 18 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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200 participants in 1 patient group

WGS arm

Other group

Description:

All 200 patients recruited will undergo WGS

Treatment:

Diagnostic Test: Whole genome sequencing (WGS)