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

What this Trial Is About

Researchers are evaluating a new newborn screening method called BeginNGS, which uses whole genome sequencing to screen for hundreds of genetic diseases. This adaptive clinical trial aims to compare BeginNGS with the current standard state newborn screening to assess its usefulness, acceptability, feasibility, and cost effectiveness. The study focuses on newborns less than 28 days old, with the goal of improving early diagnosis and treatment of many genetic diseases not covered by standard screening. Participants will have a blood sample taken to perform the BeginNGS test in addition to the routine state newborn screening. BeginNGS targets over 400 genetic diseases and adapts over time by adding or removing disorders based on emerging evidence of treatment benefits. The study plans to enroll at least 10,000 newborns, with potential expansion up to 100,000, to support broad implementation of this genome sequencing approach. During the trial, newborns and their parents will be involved in providing consent and blood samples. Researchers will compare the clinical utility of BeginNGS to state screening by measuring the proportion of newborns likely to benefit from treatment over five years. The study will also track acceptability, feasibility, cost effectiveness, and accuracy of BeginNGS, with results collected and analyzed over a five-year period.

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