NCT03918707

Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 115 (estimated)
• Sponsor: University of Illinois College of Medicine at Peoria · Academic / Other
• Sex: All
• Age: 0 Months – 4 Months
• Healthy volunteers: Not accepted

Summary

This is a pilot study involving a prospective group of 15 evaluable patients who will undergo rapid whole genome sequencing in addition to standard of care testing. Subjects will be drawn from children admitted to the NICU at OSF Health Care Children's Hospital of Illinois who meet inclusion criteria. The aims of this study are to evaluate the turn-around time and cost of performing rapid whole genome sequencing (rWGS) compared to standard of care in the diagnosis of genetic disorders among critically ill infants in a regional children's hospital and to describe management outcomes of utilizing rWGS in acutely ill patients less than four months of age.

Conditions

• Genetic Disease
• Genetic Syndrome

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Rapid Whole Genome Sequencing (rWGS)	rWGS will be performed on blood samples from subjects in the prospective group in addition to standard of care laboratory testing and imaging studies. Blood samples will also be obtained from biological parents (if available), to determine if variants are inherited or de novo and for variant segregation.

Timeline

• Start date: 2019-06-01
• Primary completion: 2022-01-01
• Completion: 2022-01-01
• First posted: 2019-04-17
• Last updated: 2021-05-27

Locations

1 site across 1 country: United States