NEW YORK – Research Triangle Institute (RTI) International said on Wednesday that it has partnered with Illumina and GeneDx to expand its Early Check newborn screening study to include whole-genome sequencing and genetic risk scores for type 1 diabetes.
Core funding of unspecified size for the expansion comes from the Leona M. and Harry B. Helmsley Charitable Trust, diabetes foundation JDRF, and Travere Therapeutics, with additional support from Orchard Therapeutics.
"This is the first study in the US to offer both genome sequencing and genetic risk scores for type 1 diabetes on a statewide basis," Holly Peay, a senior research scientist at RTI and the project's lead investigator, said in a statement.
GeneDx will conduct whole-genome sequencing and analysis for the project using Illumina's technology.
"Studies demonstrate that more than a third of children who have type 1 diabetes initially present with diabetic ketoacidosis, a potentially life-threatening condition," Jennifer Law, a professor of pediatric endocrinology at the University of North Carolina School of Medicine, said in a statement. "By learning that a child is at increased risk for type 1 diabetes, parents and medical providers can be more vigilant of its symptoms, detect it earlier, and begin insulin treatment before diabetic ketoacidosis develops."
Early Check, which began in 2018, is led by RTI and the University of North Carolina at Chapel Hill. The study offers additional testing to supplement the standard newborn screening conducted in North Carolina shortly after birth under a research protocol. The additional screening is free and offered to newborns who are enrolled in the study by their parents when they are 4 weeks old or younger.
Parents who enroll their newborns in Early Check will receive results for a large panel of conditions that can be treated early and will also be able to choose whether to include a second panel of less-treatable conditions or to learn about type 1 diabetes risk.
When a rare genetic condition is identified and confirmed by the study, families will receive educational information and genetic counseling. Clinicians at the UNC School of Medicine may also refer newborns to specialists across the state and contribute to the development of treatment plans. For infants with increased risk for type 1 diabetes, families and medical providers will receive educational information and additional testing.