Genetic Inclusion by Virtual Evaluation (GIVE)

Virtual Platforms for Genetics Evaluation in the Medically Underserved

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.

Study Overview

• Status: Completed
• Conditions: Neurodevelopmental Disorders; Birth Defects; Multiple Congenital Anomaly
• Intervention / Treatment: Diagnostic test: Whole genome sequencing (WGS)

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 Type: Interventional
• Enrollment (Actual): 100
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Seema Lalani, MD; Phone Number: 832-822-4280; Email: seemal@bcm.edu
• Study Contact Backup: Name: Brendan Lee, MD; PhD; Phone Number: 832-822-4280; Email: blee@bcm.edu

Study Locations

• United States
  • Texas
    • Edinburg, Texas, United States, 78539
      • University of Texas Rio Grande Valley

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day to 18 years (Child, Adult)
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria:

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

Exclusion Criteria:

Children with known genetic diseases

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: WGS arm; All 100 patients recruited will undergo WGS	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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Time to diagnosis	12 months

Collaborators and Investigators

• Sponsor: Baylor College of Medicine
• Investigators: Principal Investigator: Seema Lalani, Baylor College of Medicine

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2022
• Primary Completion (Actual): January 31, 2024
• Study Completion (Actual): January 31, 2024

Study Registration Dates

• First Submitted: March 31, 2022
• First Submitted That Met QC Criteria: March 31, 2022
• First Posted (Actual): April 8, 2022

Study Record Updates

• Last Update Posted (Actual): April 23, 2024
• Last Update Submitted That Met QC Criteria: April 19, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Mental Disorders; Congenital Abnormalities; Neurodevelopmental Disorders; Abnormalities, Multiple
• Other Study ID Numbers: H-50430

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No