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

Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age1-28
SponsorRady Pediatric Genomics & Systems Medicine Institute

About this trial

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.

Eligibility criteria

Qualifiers

Neonates (<28 days old) at enrollment sites.

Parents must have identified a primary care provider (or group).

Disqualifiers

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.

Trial design

Treatments tested in this trial

  • BeginNGS Test

Treatment groups

10,000 Participants
are divided into 1 treatment group