An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing
Rady Pediatric Genomics & Systems Medicine Institute
Summary
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.
Description
Each year 98% of US newborns receive screening (NBS) of dried blood spots (DBS) for at least 35 Recommended Uniform Screening Panel (RUSP) genetic disorders for diagnosis and treatment at/before onset of symptoms. About 6,600 true positive infants are identified per year. NBS is well-accepted and has proven clinical utility. Between 2010 and 2022, however, while many new therapeutic interventions for childhood genetic diseases showed clinical utility and/or were approved by the Food and Drug Administration (FDA), only 6 disorders were added to the RUSP. As a result, \~700 childhood genetic dis…
Eligibility
- Age range
- 0–0 years
- Sex
- All
- Healthy volunteers
- Yes
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…
Interventions
- GeneticBeginNGS Test
Genomic sequencing that screens for over 400 genetic diseases.
Location
- Rady Children's Hospital San DiegoSan Diego, California