A Newborn Genetic Screening Study Reaches New Milestone

A research study named Early Check has screened 1,000 newborns after birth in an effort to help identify rare conditions early, provide treatment, give parents educational information, and connect families with specialists throughout the state of North Carolina.

CHAPEL HILL, N.C. – Early Check, a groundbreaking research study that provides free health tests to newborns up to four weeks old in North Carolina, today announced that it has screened 1,000 newborns in the state under its genome sequencing study.

The study, launched in September of 2023, screens newborns for hundreds of childhood-onset genetic conditions, many of which are not identified through state newborn screening, and assesses a newborn’s genetic risk of developing type 1 diabetes in their lifetime.

Early Check, led by the University of North Carolina at Chapel Hill and Research Triangle Institute (RTI International) offers additional newborn screening shortly after birth, under a research protocol, that supplements the standard newborn screening conducted in North Carolina. 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.

“There are many serious and treatable conditions that traditional newborn screening cannot identify,” said Cynthia Powell, MD, professor of pediatrics and genetics at the UNC School of Medicine and the project’s lead investigator at UNC. “Genomic sequencing allows us to identify infants with genetic changes that indicate a high likelihood of having one of these conditions.”

The study is also offering screening for conditions with no currently available treatments but for which there are promising clinical trials. This part of the study is being led by Elizabeth Jalazo, MD, assistant professor of pediatrics in UNC’s Division of Genetics and Metabolism.

To date, the study has identified 23 newborns at risk for rare genetic conditions. The newborns’ parents, following study protocol, have access to 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 as needed.

“Diagnosing a child in the early stages of type 1 diabetes, before symptoms appear, will allow children the option to receive groundbreaking treatments that delay the need for insulin treatment,” said Jennifer Law, MD, MSCR, a pediatric endocrinologist and medical director of the Turner Syndrome Clinic at the UNC Children’s Research Institute. “Early diagnosis is also imperative to reduce complications that arise from delayed diagnosis.”

The most common finding has been G6PD deficiency, a genetic condition that is highly prevalent in North Carolina. G6PD affects an estimated 1 in 10 Black males. While G6PD does not always cause symptoms, some people with the condition, when exposed to certain chemicals, medications and foods, can experience serious symptoms and are advised to avoid triggering substances.

The study has also detected two babies at risk for hearing loss and one at risk for a renal condition called Alport syndrome, among other findings. Early treatment of Alport syndrome can help preserve kidney function.

However, 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.

The Leona M. and Harry B. Helmsley Charitable Trust, JDRF International, and Travere Therapeutics provided core funding for the expansion of the study, with additional support from Orchard Therapeutics and previous support in the planning of the expansion from Janssen Research & Development, LLC. GeneDx has been conducting the genomic screening and analysis using Illumina’s whole genome sequencing technology.

Learn more about Early Check and how to participate here.

About RTI International

RTI International is an independent, nonprofit research institute dedicated to improving the human condition. Clients rely on us to answer questions that demand an objective and multidisciplinary approach — one that integrates expertise across the social and laboratory sciences, engineering and international development. We believe in the promise of science, and we are inspired every day to deliver on that promise for the good of people, communities and businesses around the world. For more information, visit www.rti.org.

Media contact: Kendall Daniels, Communications Specialist, UNC Health | UNC School of Medicine