Early Check offers model for wider adoption of genomic newborn screening, study finds

Published in Nature Medicine, the study describes the feasibility, challenges and outcomes of genomic newborn screening
 

RESEARCH TRIANGLE PARK, N.C. — A new study led by researchers at RTI International, an independent scientific research institute, reveals the feasibility, challenges and outcomes of genomic newborn screening. The research team used data from Early Check, a groundbreaking research study that provides free and voluntary genome sequencing tests to newborns in North Carolina.

"Because of Early Check’s statewide scope, it is uniquely positioned to address critical questions about incorporating technological and therapeutic innovations into newborn screening," said Holly Peay, Ph.D., Early Check’s lead investigator during the study period. "Our latest research demonstrates the feasibility of using genome sequencing to identify actionable diagnoses in newborns, providing a model for future public health adoption—yet we identify challenges that remain for public health implementation."

During the first eight months of genomic sequencing, beginning in September 2023, Early Check screened 1,979 newborns and returned 50 screen-positive results for a 2.5% positive screening rate. Since then the total number of babies screened has increased to more than 5,000.

The research team continued Early Check’s statewide recruitment and used online consent and return of results. They also partnered with a high-throughput commercial sequencing laboratory, a strategy that can be replicated in other states to address the lack of infrastructure and expertise to support genomic sequencing in public health laboratories, according to the study authors. 

“Importantly, our study provides a rubric for interpreting positive screening results based on inheritance patterns and confirmation status,” said lead author Heidi Cope, a senior genetic counselor at RTI. “This is a notable contribution to the genomic newborn screening field that will allow data from different programs to be compared.”

During the study period, phenotypic false positives and allelic false positives occurred, accounting for 25% and 10% of the 50 screen positives, respectively, emphasizing the need for careful interpretation and follow-up.

The parents of newborns with a positive screening had access to educational information, genetic counseling and confirmatory testing. Clinicians at the UNC School of Medicine also referred newborns to specialists across the state and contributed to the development of treatment plans.

Early Check, led by RTI in collaboration with the University of North Carolina at Chapel Hill and the North Carolina State Laboratory of Public Health, has been offering supplemental newborn screening since October 2018. Initially it screened for conditions such as fragile X syndrome and spinal muscular atrophy before implementing genome sequencing.

During the study period, GeneDx conducted the genomic screening and analysis using Illumina’s whole genome sequencing technology. 

The study was published in Nature Medicine, a leading multidisciplinary science journal.

Read the full study

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