TAIPEI, TAIWAN, Apr. 1st, 2025- BeginNGS, a whole-genome sequencing (WGS) newborn screening program led by Rady Children's Institute for Genomic Medicine (RCIGM), is expanding its reach to additional hospitals in the U.S. and potentially beyond. This groundbreaking initiative aims to revolutionize newborn screening by enabling early detection and treatment of severe genetic diseases, significantly improving health outcomes for infants.
Now in its third phase, the program has added San Diego Perinatal Center, Regional One Health in Tennessee, and the University of Colorado Anschutz Medical Campus to its clinical trial. The goal is to enroll 10,000 newborns by next year and ultimately reach 100,000 over five years. The expansion aligns with growing interest in WGS-based newborn screening, evidenced by the National Institutes of Health’s (NIH) recent launch of a $14.4 million initiative to evaluate WGS as a first-tier newborn screening method.
BeginNGS ‘s goal is to make newborn screening more inclusive and equitable by ensuring test performance across diverse genetic ancestries. By identifying treatable genetic disorders at birth, the program provides opportunities for early medical intervention, which can be life-saving and prevent severe developmental delays.
Unlike traditional biochemical screening, which may miss certain genetic conditions, WGS can detect a much broader range of disorders with higher accuracy. Findings from previous phases support the program’s benefits. In a pilot trial of 120 NICU infants, 30% had reportable genetic findings despite not initially being considered for sequencing. This underscores the potential of BeginNGS to identify at-risk infants who would otherwise go undiagnosed until symptoms appear.
The BeginNGS test currently screens for 53,575 variants across 342 genes linked to 412 severe childhood genetic diseases, many of which have known treatments. Early intervention in these cases can prevent serious health complications, improve quality of life, and reduce long-term healthcare costs. The program's adaptive trial design ensures that new evidence continuously informs test updates, keeping it aligned with medical advancements.
Using Illumina NovaSeq, the test achieves 35X sequencing coverage with a 14-day turnaround, making it a feasible option for integration into newborn screening protocols. While funding currently comes from BeginNGS consortium members and RCIGM’s institutional support, wider adoption could lead to policy changes that make WGS a standard part of newborn healthcare.
With its potential to transform newborn screening and improve infant health outcomes, BeginNGS represents a major step forward in personalized medicine and preventative care.
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