Although most American newborns are tested for a number of genetic diseases, screenings are not done for others because they are too expensive for an average family.
A key goal of the Early Check program, which will be available in RTI’s home state of North Carolina in 2018, will be to learn whether the screenings for SMA and fragile X syndrome will work with newborns.
Early Check is possible thanks to a $1 million National Institutes for Health (NIH) grant. The money, under the institutes’ Clinical and Translational Science Awards (CTSA) program, will cover the first five years of the program launch.
REI, a Raleigh-based research-promotion organization, will offer the testing to up to 120,000 families a year. The program will function as a research study. REI plans to make its findings on genetic conditions and potential treatments available to the scientific community.
“We hope to offer to every baby born in North Carolina the opportunity to participate in this study,” Don Bailey, PhD, an RTI fellow who is principal investigator of the project, said in a press release.
“The conditions left out of standard newborn screening do not have enough evidence that early treatment changes outcomes, something necessary for a public health program that is done universally,” said Lisa Gehtland, MD, a public health analyst at RTI and the project’s director.
Because Early Check is designed as a research study, researchers will have the opportunity to follow up with babies found to have one of the conditions. They will offer the babies’ families a chance to participate in further studies or clinical trials.
“Without early screenings, it is extremely hard to conduct clinical studies to help infants with rare conditions,” Gehtland said. “This creates a barrier to developing new therapies. Early Check will fill this gap, benefitting science as well as patients.”
Researchers hope the results lead to changes in North Carolina’s public policy on newborn testing, adding screening for additional genetic diseases to the current mix. They also hope the program becomes a model for other states to adopt.
Early Check evolved from RTI’s research on newborn screening, conducted in collaboration with the North Carolina State Laboratory of Public Health, the University of North Carolina at Chapel Hill, Duke University, and Wake Forest Baptist Medical Center.