You can get your baby tested for two rare genetic disorders — for free

NC researchers plan to offer free genetic testing for two rare disorders to all NC newborns.
NC researchers plan to offer free genetic testing for two rare disorders to all NC newborns.

All parents of newborns in North Carolina will receive a request by mail to allow medical researchers to test their babies for two rare diseases that are currently not screened in the state.

Letters asking parents to get their newborns tested started going out last week as part of the $13 million, multi-year study called Early Check that involves UNC-Chapel Hill, Duke University and the Wake Forest School of Medicine in Winston-Salem. The benefit of the early genetic screening, the researchers say, is that it allows for early intervention and treatment for conditions that normally can take months for parents to detect on their own.

Parents will get a letter about the testing within a few days after the birth of their child, said Don Bailey, the lead researcher on the Early Check project. Bailey is also director of the Center for Newborn Screening, Ethics and Disability studies at RTI International in Research Triangle Park.

Parents will have four weeks from their child’s birth to register for the genetic testing online at https://earlycheck.org/, or they will miss out. The testing is also available to parents who did not receive a letter or didn’t see it in the mail, as long as they sign up within four weeks of their child’s birth.

Consenting to the genetic test will not require parents to take any steps beyond filling out on an online form. The testing is done with the newborn’s blood sample, which is routinely taken from a heel prick at the hospital and used by North Carolina’s State Laboratory of Public Health to test all newborns for 31 conditions and disorders.

The early screenings in North Carolina are based on recommendations from an advisory committee of the U.S. Department of Health and Human Services and must meet the criterion that early detection can benefit the child’s prognosis. The two conditions tested for in Early Check — fragile X syndrome and spinal muscular atrophy — have not met the criteria for universal testing, but Early Check researchers say their study could result in the two conditions being added to the list in the future.

“The core thing about newborn screening is that pre-symptomatic treatment is better than waiting until the symptoms appear,” Bailey said. “All the conditions currently in newborn screening are there because there’s a medical treatment or a dietary treatment.”

Why do genetic testing

The Early Check online description states it in simpler terms: “Right now, there is no cure for the health problems screened for in Early Check. But researchers are looking for better treatments, and there are already ways to help the babies get the best start.”

The site adds: “Even though the health problems cannot be cured, there may be options to help. The Early Check team will give parents information and genetic counseling. We will help parents find special doctors to take care of their baby, and we will give them information about research studies looking for new treatments.”

The Early Check program does not cover the costs of doctors and treatment.

But it’s expected that many parents will not bother with the 15-minute task of filling out an online consent form when they’re preoccupied with a new baby at home, irritable from lack of sleep and overwhelmed with a new routine in their lives, Bailey said. In surveys 80 to 90 percent of parents say they’d consent to the testing but the results are much lower in real life.

In a pilot study of the genetic test, conducted in 2015 at UNC Hospitals in Chapel Hill and two other hospitals, only 67 percent of parents consented to have their babies tested. And that study used in-person recruiters to explain the process, rather than relying on a letter that can be mistaken for junk mail.

The consent letter says the parents’ and babies’ information is never sold or given to anyone outside the program and that the study has enhanced security protections, but that standard caveat could make parents hesitant to participate: “We are fully committed to protecting your information, but it is never possible to guarantee that a system is completely secure,” the disclosure form says.

One of the goals of the Early Check is to assess the effectiveness of snail mail as a recruitment tool. At a later phase of the study, parents will be notified by social media and also by in-person recruiters, to see which method works best. Bailey said the project would struggle to handle a 100 percent response rate, which would be an average of 328 births a day and about 120,000 a year.

Treatment options

The study is also testing the benefits of early screening for the two conditions: fragile X syndrome, which affects one in 5,000 newborns, and spinal muscular atrophy, which affects one in 10,000 newborns.

Parents typically don’t figure out something is wrong with a baby who has fragile X syndrome until a year passes, and the child is often not diagnosed until age 3, Bailey said. The condition causes an IQ of about 50-55 and other symptoms, such as aggressive behavior. It is not curable but can be treated with behavioral therapies such as speech therapy and other developmental treatments.

Spinal muscular atrophy is not visible at birth but in severe cases can lead to the child’s death by age 3. In less severe cases the child has muscular weakness and problems with coordination, he said. An injectable drug, taken twice in the first year and once a year thereafter, “dramatically reduces the symptoms,” Bailey said.

No states in this country require genetic testing for these two rare disorders, but several states are testing for spinal muscular atrophy as a pilot project, Bailey said.

More than half the funding for the study, about $7.5 million, is coming from the National Institutes of Health; the other funding sources are the National Center for Advancing Translational Sciences, the John Merck Fund, spinal muscular atrophy group CureSMA, Texas-based diagnostics company Asuragen, and the Eunice Kennedy Shriver National Institute of Child Health and Human Development.