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The study screens newborns for hundreds of conditions using genome sequencing
RESEARCH TRIANGLE PARK, 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 over 1,000 newborns in the state under its genome sequencing study that launched in September.
The study screens for hundreds of childhood-onset rare genetic conditions, many of which are not identified through the state’s standard newborn screening, and assesses a newborn’s genetic risk of developing type 1 diabetes in their lifetime. Learning about risk for type 1 diabetes is optional with approximately 80% of parents choosing to receive this information.
“Early Check is giving parents vital information about their newborns that was previously not possible and allows them to get an early start on treatment plans when necessary,” said Holly Peay, Ph.D., a senior research scientist at RTI International and the project’s lead investigator. “Early Check is the first statewide research program to offer genome sequencing to newborns, so this marks an important milestone in North Carolina and nationally.”
To date, the study has identified 23 newborns at risk for rare genetic conditions, not including those at higher risk for type 1 diabetes. The newborns’ parents, following study protocol, have access to educational information and genetic counseling. Clinicians at the University of North Carolina at Chapel Hill School of Medicine also refer newborns to specialists across the state and contribute to the development of treatment plans as needed.
“For many patients, a genetic diagnosis only comes after years of living with often unexplained symptoms, ineffective treatments and incurring countless medical expenses,” said Paul Kruszka, M.D., Chief Medical Officer of GeneDx, which has been conducting the genomic screening and analysis. “By screening for and identifying these conditions at birth, we stop the odyssey before it even begins. We hope to see more states adopting similar programs, creating more opportunities for children and their families to have improved health outcomes.”
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 nonsyndromic hearing loss and one at risk for a rare kidney disease that is associated with hearing and vision loss.
Not all conditions screened through Early Check can be prevented or treated 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.
Early Check is led by RTI and the University of North Carolina at Chapel Hill. The study 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.
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.
GeneDx has been conducting the genomic screening and analysis using Illumina’s whole genome sequencing technology.
