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This RTI/UNC-Chapel Hill collaboration will be the first U.S. study offering genome sequencing and genetic risk scores for type 1 diabetes statewide. UNC School of Medicine leads are Cynthia Powell, MD, in genetics and pediatrics, and Jennifer Law, MD, in pediatrics.

Early Check, a groundbreaking research study that provides free health tests to newborns up to four weeks old in North Carolina, will begin offering genome sequencing to screen for hundreds of childhood-onset genetic conditions and assess a newborn’s risk of developing type 1 diabetes in their lifetime. Enrollment for the expanded study is expected to begin Thursday, Sept. 28.

The Leona M. and Harry B. Helmsley Charitable Trust, JDRF, and Travere Therapeutics have provided core funding for the expansion, with additional support from Orchard Therapeutics and previous support in the planning of the expansion study from Janssen Research & Development, LLC. GeneDx, a leader in delivering improved health outcomes through genomic and clinical insights, will conduct the genomic screening and analysis using Illumina’s whole genome sequencing technology.

“This is the first study in the U.S. to offer both genome sequencing and genetic risk scores for type 1 diabetes on a statewide basis,” said Holly Peay, PhD, a senior research scientist at RTI International and the project’s lead investigator. “We are grateful for the funding provided for this expansion and excited to partner with GeneDx and Illumina, which together bring tremendous experience with genome sequencing, a capability that has the potential to transform health care for young children.”

Early Check, which began in 2018, is led by RTI and the University of North Carolina at Chapel Hill. The study offers additional newborn screening, under a research protocol, that supplements the standard newborn screening conducted in North Carolina shortly after birth. The additional screening is free and offered to newborns who are enrolled in the study by their parents when they are four weeks old or younger.

Cynthia Powell, MD, and Jennifer Law, MD

“The goal of Early Check is  to build a model for testing feasibility and benefits of screening for conditions not currently part of state newborn screening,” said Don Bailey, PhD, a Distinguished Fellow at RTI who led the initial development of Early Check. “We have proven that it can work with a small group of conditions. We now have the foundation for a dramatic expansion of the number of conditions that could be identified by genome sequencing.”

“There are many rare but treatable genetic disorders that can cause serious problems in infants and children for which we have previously had no method to screen,” said Cynthia M. Powell, MD, a lead investigator for Early Check who is a professor of genetics and pediatrics in the UNC School of Medicine. “With the use of genomic sequencing we now have a method to detect many of these before a child develops symptoms and hopefully improve their health outcomes.”

When a rare genetic condition is identified and confirmed by the Early Check screening, families receive educational information and genetic counseling. Clinicians at the UNC School of Medicine also refer newborns to specialists across the state and contribute to the development of treatment plans. For infants identified at increased risk for type 1 diabetes, families and medical providers will receive educational information and additional testing.

Importantly, not all conditions screened through Early Check can be prevented or cured and severity cannot always be determined via screening. For those conditions that have limited treatment options, education and early intervention may help prevent the worst outcomes in children. 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 have screening for a second panel of less-treatable conditions and to learn about type 1 diabetes risk.

“Studies demonstrate that more than a third of children who have type 1 diabetes initially present with diabetic ketoacidosis, a potentially life-threatening condition,” said Jennifer Law, MD, an associate professor of pediatric endocrinology at the UNC School of Medicine, who is also director of the UNC Turner Syndrome Clinic and co-director of the UNC Bone Fragility Clinic. “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.”

Both Powell and Law are members of the UNC Children’s Research Institute.

Learn more about Early Check and how to participate here. UNC School of Medicine media relations contact is Mark Derewicz.

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