Cynthia Powell, MD (image credit: UNC)
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, 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.
“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.”
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