Researchers at Duke are partnering with other institutions to provide free elective genetic newborn screening to every family who has a baby in North Carolina.
RTI International, a nonprofit in Research Triangle Park, is launching a program called Early Check in collaboration with Duke, the University of North Carolina at Chapel Hill, Wake Forest University and the North Carolina State Public Health Laboratory. Early Check will offer free genetic screening for two additional conditions not included in the state's current list of standard disorders that are tested—spinal muscular atrophy and fragile X syndrome.
“We’re going to be doing our best to reach out to every birthing family in North Carolina—that’s about 120,000 a year—and offer screening for the conditions that we’re including in Early Check for free,” said Don Bailey, the principal investigator of the project and distinguished fellow at RTI International.
Bailey explained that the program will help provide more research for the U.S. Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children to decide which conditions to include in standard genetic testing.
Dr. Alex Kemper, the principal investigator at Duke, also noted that this program is an opportunity to inform health care providers and policy makers about the benefits of expanding newborn screening for these conditions.
“The key thing is that conditions can’t be recommended for newborn screening unless we know that the screening test leads to better outcomes,” Kemper said. “Without this kind of platform, there are conditions that would really benefit from newborn screening that wouldn’t be there, because we don’t have the answers.”
Spinal muscular atrophy, the top genetic cause of infant mortality, affects approximately one in 10,000 babies, while fragile X syndrome, a major cause of inherited intellectual disability, affects one in 4,000 males and one in 8,000 females. Kemper added that although individual conditions may be rare, once all of the conditions are aggregated, the likelihood that any individual baby will have one condition is higher.
Kemper explained that although the majority of conditions are tested for using the same dried blood sample taken from newborns, expanding testing to unlimited conditions would be difficult. He noted that the bar is set high to make sure that screening provides more benefit than harm in each instance.
“The critical thing about newborn screening is that, because it’s a public health program, only those conditions that we know if you find them early lead to better outcomes are included in newborn screening,” Kemper said. “Just because you can find a health problem early doesn’t mean that leads to better outcomes than if you found them otherwise."
Bailey noted that although there are many conditions for which treatment may not provide much benefit, there are still conditions that parents want to know about. Consequently, there have been suggestions for a two-tiered screening system—one that would be the standard state screening and a second screening that would be voluntary for parents who want it.
However, Bailey explained, this system has never been implemented because of the challenges of getting consent, especially for an entire state. He noted that Early Check would be useful for finding out more about this possibility.
“We think that what we’ll be learning about in this study will not only be about these two conditions, but it’ll be about the outreach and permission and consent process,” Bailey said. “It could help inform future policy about maybe a second tier of voluntary newborn screening.”
Natasha Bonhomme, director of Baby’s First Test—a center for newborn screening education—and a supervisor for the Early Check program, said that parents generally do give consent for these elective tests.
“Oftentimes, what we find is if people are given enough education, enough information and the opportunity to talk through what the process is and get all their questions answered, people tend to be pretty receptive to those types of tests,” Bonhomme said.
Kemper noted that Early Check could change the lives of many families.
“We already know that newborn screening is an incredibly effective, powerful public health program that most people don’t know anything about,” he said. “This Early Check program is going to really build on our path to success and allow us to improve the lives of children with these potentially devastating conditions.”
Adam Beyer contributed reporting.
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