Newborn Genomic Sequencing (BeginNGS) Prospective Pilot Study

20226892

The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Newborns who are not suspected of having genetic diseases and who are admitted to the NICU at Rady Children's Hospital, San Diego, will be enrolled. The main questions this study aims to answer are: * What is the diagnostic yield of diagnostic whole genome sequencing (DWGS) in this population? * What is the diagnostic sensitivity and specificity of BeginNGS and whole exome sequencing (WES) as compared to DWGS? * What are the potential issues related to implementing DWGS in this population? Enrolled newborns will have a blood sample taken and will receive three tests: * DWGS * BeginNGS * WES

2023-03-13

2024-02-28

2024-09-01

Active (not recruiting)

120

Inclusion Criteria: * Neonates less than or equal to 10 days old who are admitted to the RCHSD NICU. Exclusion Criteria: 1. Neonates who have enrolled in another clinical study at Rady Children's Institute for Genomic Medicine or in whom DWGS has been ordered or is being considered. 2. Neonates whose mother is less than 18 years of age. 3. Neonates who are wards of the state. 4. Neonates whose parent/legal guardian is unable to provide consent.

{'studyType': 'INTERVENTIONAL', 'phases': ['NA'], 'designInfo': {'allocation': 'NA', 'interventionModel': 'SINGLE_GROUP', 'interventionModelDescription': 'Single group, multiple interventions. All enrollees receive all interventions.', 'primaryPurpose': 'SCREENING', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 120, 'type': 'ACTUAL'}}

2024-03-04