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Revvity to Provide Genome Sequencing for North Carolina Newborn Screening Study Under Deal With RTI

NEW YORK – RTI International and Revvity said Thursday that starting next month, Revvity will conduct genome sequencing for RTI's Early Check newborn screening study in North Carolina.

The deal, financial and other terms of which were not disclosed, comes after RTI said last September that it had partnered with GeneDx and Illumina to provide genome sequencing for the study. A spokesperson for RTI said the previous agreement was only for the first 2,000 newborns screened.

The Early Check study is testing infants up to 4 weeks old for about 200 rare childhood-onset genetic conditions, many of which are beyond the scope of testing conducted through the state's standard newborn screening program. The results will be used to assess when and how to integrate genome sequencing into universal newborn screening. Under the agreement with Revvity, the study plans to expand the screening to more conditions. It will continue to offer an optional test relying on a polygenic risk score that assesses a newborn's genetic risk of developing type 1 diabetes.

"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," Holly Peay, lead investigator of the study and a senior research scientist at RTI, said in a statement.

Starting in May, Revvity will perform genome sequencing for the study using Element Biosciences' Aviti benchtop sequencer and its in-house workflow. The Early Check researchers began offering genome sequencing for infants in North Carolina last September and have returned results for more than 1,500 newborns since, identifying more than 30 infants at risk for one of the screened genetic conditions.

The study is led by scientists at RTI and the University of North Carolina at Chapel Hill in a 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 the core funding for the study, with additional funding from Orchard Therapeutics.