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How a New Study is Expanding Newborn Screening for Fragile X

Lisa Gehtland, MD has made a career of helping babies get the best start in life through early genetic testing. Dr. Gehtland is the project director of Early Check, an important new $13 million, multi-year study led by RTI. Early Check offers expanded newborn screening for fragile X to babies in North Carolina. We interviewed her to learn more about the program, which launched this fall.

How would you describe what Early Check is? How does it work?

Early Check is a research study to check newborns for rare but serious health problems. All moms giving birth in NC are eligible to participate and they can sign up any time between the second trimester of pregnancy through when their baby is 4 weeks old. Early Check does extra, free tests on the newborn screening blood sample that was already taken in the hospital using a heel prick. One of the conditions we test for is fragile X syndrome. Most babies will get a normal result. If we find a baby with one of the rare health problems we test for, Early Check will give information, counseling, and referrals for medical care.

Why was fragile X selected as one of the conditions?

Our group at RTI has significant research interests in fragile X. We have created Our Fragile X World, and we were involved in the original pilot study of FXS newborn screening. We want to learn more about how to help children and families with fragile X. Often, fragile X isn't diagnosed until much later in life. We're curious whether early intervention can change outcomes if kids are diagnosed earlier. We think if we intervene earlier, children can have better outcomes at school age, adolescence, or as adults.

Do we know if early intervention helps?

That's something we're directly interested in finding out. Nobody knows for sure whether it can help children who were diagnosed with fragile X shortly after birth. Of course, it makes intuitive sense that if children get intervention earlier, it'll help. But, the truth is, we don't know yet.

Through Early Check, we'll offer families an intensive intervention in those very early years that is meant to support their child, and we'll study whether that intervention improves outcomes for their child later on. We could really contribute to science and people's lives if we can show that's the right thing to do.

What else do you think makes Early Check unique?

It's state-wide, so it has a huge scope. We're offering screening to every baby born in North Carolina, which is up to 120,000 babies per year. That kind of scope has never been tried before in a screening study for fragile X.

Another thing that makes Early Check unique is that signing up is done online. People can sign up from their tablet or phone. You don't have to be near a large academic medical center, you can be in a small town or rural area and still participate.

Why is it important to try get every baby in North Carolina tested?

Fragile X syndrome is rare. To answer the questions that we want to answer about fragile X syndrome, we need to identify enough babies. To identify enough babies, we need to screen lots of them. The more babies we screen, the more babies we identify, and the better we can answer our research questions and provide support to children and their families.

In the future, if an effective early treatment for fragile X syndrome is developed, it's possible that fragile X could be included in standard newborn screening. The way Early Check is structured gives a real model of how newborn screening for fragile X could work in state newborn screening programs.

What kind of testing is being offered? Are babies being tested for both the premutation and the full mutation? Can parents opt into one and opt out of the other?

The test for fragile X gives us information about whether a child has the full mutation and about whether the child has the premutation.

There's more uncertainty over whether a child will be affected by premutation. Because of that, moms have the option to choose to find out whether their child has a premutation.

Now, of course, that means that somebody could have a child that has a premutation who could be significantly affected. If they didn't choose to find that information out right after birth, they wouldn't know until the child was older. But we felt like we had to decide where we draw the line between what we always report and what is optional. Clinically, there's a cut-off between full mutation and premutation, so we made the decision to follow the clinical guidelines.

What happens if a baby tests positive for fragile X?

A genetic counselor will call the family to communicate the result and explain what it means. We'll do an additional test to make sure that the first test was right. The family will receive a kit in the mail to collect their baby's saliva. Then, they'll pack it up and send it to UNC [University of North Carolina at Chapel Hill]. We'll do a second test on that saliva sample to confirm whether the baby does, in fact, have the diagnosis. If the child does have fragile X, the family will be invited to come to the Early Check Clinic at UNC. That's a clinic where the child can see multiple specialists for their follow-up in a single place. They'll get genetic counseling, a developmental assessment, and we'll connect them to clinical resources. We will also invite them to take part in our long-term follow up study, in which kids will get developmental assessments on a regular basis. In addition, we have a study that will test the effectiveness of an early intervention for children with fragile X.

If the family prefers to get their care somewhere else, we'll help connect them with resources near them.

How is the Early Check screening different from other types of testing for fragile X?

Diagnostic testing is usually done after a clinician suspects that it could be fragile X, which often takes a long time. Families often suspect something's wrong with their child, for example, maybe the child doesn't talk. A lot of families experience a long diagnostic odyssey trying to figure out what's wrong. We found in one of our earlier studies that the average age of diagnosis is about 3 years old.

Early Check gives parents the chance to know right at the beginning. They won't have to go through that long process. And because they know early on, they can find resources for their child, and they'll be eligible for early intervention.

You worked for at least three years just to be ready to launch the study. What went into getting to this point?

It's a large and expensive study, so we had to obtain funding. We got funding from both from the federal government as well as non-profits. The company that makes the screening test is also supporting the study.

Because we are doing consent online, we had to have a thorough, solid, and comprehensive consent process. It took a long time to develop the content, to build it, and to test it to make sure parents understood it.

We also developed a partnership with the state of North Carolina's State Laboratory of Public Health, who does the regular newborn screening. The study required building a solid relationship between our research team and the team at the State Lab. They have a public health mission, so they were interested in this, but it really required us to build it together. Only together could we could run such a large study.

And wasn't there additional testing that had to be done to make sure the screening test was working correctly?

Yes, it took a long time to set it up and to run thousands of test samples to make sure it was working accurately. There are a lot of regulatory requirements, and we had to train the lab staff to run the test.

The test we use is actually the exact same test that's used for diagnostic purposes. It's being set up as a screening test rather than a diagnostic test, but it's the same test.

What's next for newborn screening for fragile X?

First, we have to show that fragile X newborn screening is beneficial, both for children and their families. We have to see if families agree that it's a good thing to screen early, that they don't sign up and then say, "you know what, I wouldn't have wanted that after all." The next thing that would happen if we are successful is that we could expand to another state to offer to thousands more families. If we find that newborn screening for fragile X is a good thing, if our study shows that early intervention improves outcomes, then fragile X could ultimately be added to standard newborn screening. That's a long way off for now, though.

If a pregnant woman or new mom in NC is interested in being in the study, how do they find out if they are eligible to participate?

Families can go to portal.earlycheck.org to learn more about the study and sign up.

Thank you, Dr. Gehtland, for taking the time to speak with us, and congratulations on the successful launch of this important study!

Share Your Story

What do you hope the Early Check study will learn? Let us know by contacting us! We'd love to hear from you.

About the Author

Laura Wagner

Laura Wagner is a research analyst at RTI International in the Center for Communication Science. She studies how health professionals communicate with patients and families.

Dr. Lisa Gehtland