Early Check, a research study that provides free health tests to newborns up to four weeks old in North Carolina, 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, as well as risk for hearing loss.

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.

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 at earlycheck.org.