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Early Check Newborn Screening Study Taps Revvity To Provide Genome Sequencing

A newborn baby's feet.
Credit: Rainer Maiores / Pixabay
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RTI International has announced that Early Check, a groundbreaking research study that provides free voluntary health tests for newborns up to four weeks old in North Carolina, has chosen Revvity, Inc. to conduct genome sequencing for the study starting in May.

The agreement with Revvity will allow Early Check to continue to test newborns for hundreds of childhood-onset rare genetic conditions, many of which are not included in North Carolina’s standard newborn screening, as the study assesses critical questions about when and how to integrate genome sequencing into universal newborn screening.

The agreement will also allow Early Check to expand the screening to include even more conditions and to continue offering an optional test that assesses a newborn’s genetic risk of developing type 1 diabetes in their lifetime, which approximately 80% of parents choose to receive.

"We are pleased to partner with Revvity’s expert team and its state-of-the-art genome sequencing workflow,” said Holly Peay, PhD, a senior research scientist at RTI International and the study’s lead investigator. “Revvity has a proven track record in newborn screening and conducting sequencing with accuracy and efficiency, which are critical to the success of this research study.”

Revvity’s genome sequencing workflow is powered by the AVITI™ System, an innovative and emerging genome sequencing platform developed by Revvity’s partner Element Biosciences, Inc. Revvity’s workflow includes sample-to-answer that saves time and effort required for genomic sample analysis.

“Our next generation sequencing (NGS) workflow enables health care professionals to uncover variants in genes that are relevant to early-onset conditions,” said Madhuri Hegde, PhD, FACMG, SVP and chief scientific officer, Revvity. “As NGS becomes more accessible, the collaboration with RTI is especially significant, for it demonstrates how different organizations are working hand-in-hand to improve the health and wellbeing of families and future generations.”

Early Check began offering genome sequencing in September 2023. Since then, the study has returned results for more than 1,500 newborns who were enrolled in the study by their parents when they were four weeks old or younger and identified more than 30 babies at risk for one of the screened conditions.

The newborns’ parents have access to educational information and genetic counseling. Clinicians at the University of North Carolina School of Medicine also refer newborns to specialists across the state and contribute to the development of treatment plans as needed.

Early Check is led by experts at RTI and the University of North Carolina at Chapel Hill in partnership with the North Carolina State Laboratory of Public Health. The Leona M. and Harry B. Helmsley Charitable Trust, JDRF International and Travere Therapeutics have provided core funding for the study, with additional support from Orchard Therapeutics.