Genome Sequencing in the Intensive Care Unit Population

NAEnrolling by invitationINTERVENTIONAL
Enrollment

400

Participants

Timeline

Start Date

July 13, 2020

Primary Completion Date

December 31, 2025

Study Completion Date

June 30, 2026

Conditions
Infant, Newborn, DiseaseGenetic Disease
Interventions
DIAGNOSTIC_TEST

Neonate WGS Testing

"Neonates will undergo whole genome sequencing, and analysis with a targeted panel of genes likely to cause genetic disorders in the first year of life. If no diagnosis is identified, sequenced data will be analyzed using a whole exome filter. Performed in a CLIA-certified lab. Pathogenic, likely pathogenic, and VUS in genes related to the phenotype will be returned to the care team and family.~Parents will be enrolled for the purpose of trio analysis with the child to assist in determining the pathogenicity of variants in genomic sequencing. Pathogenic and likely-pathogenic findings will be reported to the parents in the setting of genetic counseling.~Sibling will be enrolled and have samples collected for use in the genetic analysis only if deemed essential. Results will be reported to the parents in the setting of genetic counseling."

Trial Locations (1)

15224

UPMC Children's Hospital of Pittsburgh, Pittsburgh

All Listed Sponsors
lead

Jerry Vockley, MD, PhD

OTHER