An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing

20235517

The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Parents will be approached to provide informed consent to enroll their newborns in prenatal, postnatal, and outpatient settings. The main questions this study aims to answer are: What is the utility of BeginNGS as compared to state newborn screening? What is the acceptability and feasibility of BeginNGS as compared to state newborn screening? What is the cost effectiveness of BeginNGS as compared to state newborn screening? Enrolled newborns will have a blood sample taken and will receive the BeginNGS test. Newborns will have also had the state newborn screening test.

2024-02-29

2029-02-01

2029-02-01

Recruiting

10000

Inclusion Criteria: 1. Neonates (\<28 days old) at enrollment sites. 2. Parents must have identified a primary care provider (or group). Exclusion Criteria: 1. Neonates whose mother is less than 18 years of age. 2. Neonates who are wards of the state. 3. Neonates whose parent/legal guardian is unable to provide consent. 4. Parents with a home address outside the US or jurisdiction of the enrollment sites. 5. Neonates or fetuses who are ill and in whom enrollment or sampling is anticipated to interfere with healthcare provision at delivery. For example, fetuses or neonates who are likely to require transfer to a higher level of care, such as to a Level IV NICU upon delivery. 6. Neonates who are under consideration for a rapid diagnostic genome sequence or other diagnostic genetic testing. 7. Neonates who are not expected to survive the neonatal period.

{'studyType': 'INTERVENTIONAL', 'phases': ['NA'], 'designInfo': {'allocation': 'NA', 'interventionModel': 'SINGLE_GROUP', 'primaryPurpose': 'SCREENING', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 10000, 'type': 'ESTIMATED'}}

2024-03-12