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.
Neonates (<28 days old) at enrollment sites.
Parents must have identified a primary care provider (or group).
Neonates whose mother is less than 18 years of age.
Neonates who are wards of the state.
Neonates whose parent/legal guardian is unable to provide consent.
Parents with a home address outside the US or jurisdiction of the enrollment sites.
Single group
BeginNGS Test
GeneticGenomic sequencing that screens for over 400 genetic diseases.
Comparison of the clinical utility of BeginNGS and standard of care (state NBS), defined by the proportion of enrollees likely to benefit (likely to have an improved outcome) from an indicated therapeutic intervention
The proportion of enrollees likely to benefit (likely to have an improved outcome) from an indicated therapeutic intervention (as per an electronic clinical management system, Genome-to-Treatment, GTRx)
Utility secondary outcome 1
The proportion of BeginNGS and state NBS of DBS that are positive (Positive rate)
Utility secondary outcome 2
The proportion of BeginNGS and state NBS of DBS positive results that are confirmed (true positive rate and positive predictive value)
Utility secondary outcome 3
The proportion of BeginNGS and state NBS of DBS that are true positive and diagnosed during infancy.
Utility secondary outcome 4
The proportion of BeginNGS and state NBS of DBS that are true positive and diagnosed at study end.
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