DNA test helps predict if scoliosis will progress

When 11-year-old Julia Deferville was diagnosed with abnormal spine curvature, her mom, Joyce, worried about her daughter's future.

The Lake Villa parent feared Julia, who had always been the tallest in her class, would have to wear a brace if the curve worsened.

“I was worried about her,” Joyce Deferville said. “A lot of it was that old-fashioned stereotype of braces. Kids can be cruel.”

Those fears were relieved last spring when Julia became one of the first patients in the Chicago area to undergo a new DNA test that helps doctors see how likely it is that the spine of a patient diagnosed with mild Adolescent Idiopathic Scoliosis, the most common type of scoliosis, will become more curved. It also helps the patients to know if it's likely that they may eventually need bracing or surgery.

The ScoliScore AIS Prognostic Test involves DNA analysis of a patient's saliva sample, which then produces a numerical score between 1 and 200 that tells doctors whether patients are at low, intermediate or high risk for developing a severe curve.

The test may help reduce the need for repeated spinal X-rays, frequent doctor visits and bracing for thousands of patients across the country, doctors say.

“It's another piece of information a physician can use to determine the rate of progression of scoliosis deformity in a growing child,” said Dr. Steven Mardjetko, an orthopedic surgeon with the Illinois Bone and Joint Institute in Morton Grove. “It's not revolutionary, but it is the first time we've had genetic testing for spinal deformity, such as scoliosis. It does help a lot.”

The test is intended for children between ages 9 and 13 who have been diagnosed with AIS. Before this, doctors had little way of predicting how bad the condition could become. Children generally are monitored for progression until they stop growing, which typically means X-rays and physical exams a few times a year for several years. The test's results can now help doctors create individual patient treatment plans, Mardjetko said.

Recent studies have shown a strong genetic component to AIS, he said, and researchers have discovered that scoliosis patients have a genetic markers that may predispose them to developing severe scoliosis or protect them from curve progression.

The test was created by researchers at Axial Biotech in Salt Lake City. First made available in select doctors' offices last year, it is just now becoming more widespread.

Because the test is newer and still gaining acceptance, “it's still under pretty significant study by all of us,” Mardjetko said. “We're all trying to figure out what the right use of it is.”

He estimated that he recommends the test for 1 out of every 10 children he sees with scoliosis. Families decide against it for various reasons, but most commonly because of cost, he said.

In Julia's case, the test indicated that she has a 99 percent probability that her curve will not progress to severe. But because she is still growing, she will need to continue to undergo regular checkups, her mom said.

“I'm really relieved,” Deferville said. “It was peace of mind.”