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BeginNGS Newborn Screening for Genetic Diseases

This study is testing a new way to screen newborns for hundreds of genetic diseases using a test called BeginNGS. This test uses genome sequencing (looking at a baby's complete set of DNA) to screen for over 400 genetic conditions. Researchers want to see how well BeginNGS works compared to the standard newborn screening your state already does. They also want to understand if it's easy to use and cost-effective. To join, your baby must be between 1 and 28 days old, and you must have a primary care provider. The main goal is to see if BeginNGS helps babies get treatment earlier, leading to better health outcomes, which will be measured over 5 years. The study is currently enrolling about 10,000 newborns.

Study design
This is an interventional study, meaning participants will receive a specific intervention (the BeginNGS Test). It aims to enroll 10,000 newborns.
What's involved
If your baby joins, a blood sample will be taken for the BeginNGS test. Your baby will also have the standard state newborn screening test.
Compensation
Not stated in the trial record.
Follow-up
The study will compare outcomes over 5 years to see if early treatment improves health.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06306521

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

Recruiting
NAAges 1–28InterventionalScreening
Rady Pediatric Genomics & Systems Medicine Institute
~10,000 participants
Updated 2024-03-12 on ClinicalTrials.gov
What's tested:BeginNGS Test

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
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
Measured over 5 years

Conditions

Genetic Disease

Explore related trials

Genetic Disorder

Where it's being run

1 sites across 1 states
California1

Study leadership

  • Stephen Kingsmore, MD DSc · PRINCIPAL_INVESTIGATOR · Rady Children's Institute for Genomic Medicine
  • Rebecca Reimers, MD MPH · PRINCIPAL_INVESTIGATOR · Rady Children's Institute for Genomic Medicine

Who to contact

Lauren Olsen, MSN
[email protected]
858-576-1700 · ext. 228456
Email the study team

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What this trial measures

  • 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 intervention5 years

    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)