RTI program to offer genetic testing to every N.C. newborn

The Herald-Sun – After birth, most babies in the United States are tested for a series of genetic disorders with the hope that those diseases can be pre-emptively treated, rather than going unnoticed to the point they are deadly.

The number of conditions tested in genetic screenings varies state by state, but currently around 30 such conditions are routinely tested nationally. Come next year, that number will expand in North Carolina, as RTI International plans to launch a program offering an additional elective genetic test to every child born in the state.

The program is called Early Check and its team currently plans to offer screenings for two conditions: spinal muscular atrophy, a significant cause of death among infants, and fragile X syndrome, the leading inherited cause of intellectual disability. Both conditions are very rare, with spinal muscular atrophy occurring one in 10,000 births and fragile X syndrome happening one in 5,000.

Those two conditions are currently left out of standard screenings because there isn’t enough evidence that early treatments lessen their effects. It’s an explicit goal of the project to provide more evidence for those two conditions, so that potential treatments might be developed.

“A good example is spinal muscular atrophy,” said Don Bailey, the project’s principal investigator. “This is a disorder that is very deadly for kids who have the most severe type. The babies start to show symptoms by six months and most of those babies pass away by two years of age.”

Bailey, who sits on a committee that recommends which conditions are screened for, said the information from the project will be used in studies to help find treatments for the conditions.

Many companies — including Biogen, which has operations in Research Triangle Park — are working on treatments for spinal muscular atrophy, but they are currently using research that studied babies already showing symptoms, he said.

“That’s often too late,” Bailey said. “We want to provide a way for groups that need it to test for conditions like spinal muscular atrophy, so that we can have that benefit of knowing if treatments work better [before symptoms start showing].”

Early Check, which grew out of screening research developed at RTI, is funded by a $5 million grant from the National Institute of Health. RTI’s research was done in partnership with the N.C. State Laboratory of Public Health, UNC-Chapel Hill, Duke University and Wake Forest Baptist Medical Center.

The screenings are completely voluntary for North Carolinians that will be offered the additional screenings. Around 98 percent of parents take part in genetic screenings already offered, which is considered a standard public health practice, Bailey said.

In the pilot programs that RTI has administered, around 60 to 65 percent of families have opted for the additional screenings the program will provide.

Early Check is expected to be extended to around 120,000 families each year and RTI will be spending the next year building the infrastructure to support the project and developing communication outreach tools.

North Carolina’s growing and diverse population, along with its access to major medical universities, makes the state an attractive location for the study, Bailey said.

“[This project] is really important because there are so many families who have children with very devastating diseases, who often go one what we call a diagnostic odyssey,” Bailey said. “They and their doctors are trying to figure out what's going on and it takes time because often many of these conditions aren't obvious, and by the time you often identify them a lot of problems that have occurred can’t be undone.

“We are trying to solve that while doing it in a way that's evidence based,” he said. “We want to make sure that policy decisions have as much evidence as they can.”

RTI, which has around 2,100 employees at its RTP campus in Durham, is a nonprofit research organization founded in 1958 to aid research and development projects across the globe.

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