New genetic test predicts risk of severe curvature in the spine

A little spit spared 15-year-old Katy Schmidt a lot of agony and months in a tight-fitting body brace.

It gave her parents something more: relief that Katy's scoliosis would stay mild enough to never need treatment. A simple swab to the cheek predicted the future for the Schmidts, who worried that their athletic daughter would be sidelined by a brace or surgery.

"Living with the unknown is never good," Stephanie Schmidt of Arlington said. "But this gave us that extra piece of knowledge. It gave us peace of mind."

Every year, an estimated 100,000 children in the United States are diagnosed with scoliosis, a condition that causes an abnormal curve in the spine and can lead to pain, limited activity and deformity, according to the National Scoliosis Foundation. Some 30,000 children are put in braces to stop the curvature. One in 5,000 needs surgery.

But for most children, the condition remains so mild that it has virtually no symptoms and never requires treatment.

The question facing physicians is which of those mild cases will progress, requiring close monitoring and treatment, and which won't.

ScoliScore, the first and only genetic test for scoliosis, answers that question with 99 percent accuracy. The test compares genetic markers to come up with a score from 1 to 200. Those with a score of less than 50 have a low risk that the scoliosis will progress and require treatment, said Dr. Richard Hostin, medical director for the Baylor Scoliosis Center in Fort Worth and Plano. Those with a high risk of spinal curvature can start treatment earlier.

A low score also means that the patient will not need X-rays as often, thus reducing exposure to radiation, Hostin said. Office visits are also reduced.

The genetic test was developed by Axial Biotech and approved by the Food and Drug Administration in 2009. It costs about $3,000 and is typically covered by private insurance. Axial Biotech also offers financial assistance for those who are uninsured or underinsured.

About a dozen physicians in Texas offer the test, but it is expected to become more widely available as word spreads. It is offered in Fort Worth through Baylor All Saints Medical Center.

Some physicians, such as those at Cook Children's Medical Center, are waiting on more research to determine whether it is the best option for their patients.

It is not for every child. It's designed for children ages 9 to 13 with idiopathic scoliosis, meaning that the cause is unknown, which is the case about 85 percent of the time. It cannot predict who will get scoliosis.

In Texas, children are screened for abnormal spine curve in the sixth and ninth grades.

The screening is done during the growth-spurt years to detect the curvature early.

Katy, a sophomore at Arlington Martin High School, was in the sixth grade when a school nurse screened her for scoliosis. About that time, Katy went through a huge growth spurt, which further raised concerns.

"She went from 5 feet to 5 feet 6 over a six-month period," Stephanie Schmidt said.

Although Katy said she never thought that she would need surgery, she said she was prepared to wear a brace and even shopped for something that might be more comfortable.

"We would have gone with the surgery if it was necessary and allowed her do all the things she wants to do," Stephanie Schmidt said. "But I'm certainly relieved we won't have to go through that."

Katy, a volleyball player, had been told to reduce the amount of strength training she did because of the scoliosis.

"I hated not being able to exercise," she said ."My game just was not as good."

When the genetic test showed that she was at low risk for the disease progressing, all the restrictions were lifted and she can now train more aggressively.

"Scoliosis did not hinder her ability to play volleyball, but it did affect her ability to fully work out," Stephanie Schmidt said. "Now things will be a lot better for her."

The family is also relieved that Katy's exposure to radiation will be reduced because she won't need X-rays as often. "When her doctor told us he won't see her until she's 18, I was just amazed," Stephanie Schmidt said. "No more watching and waiting and waiting."

Jan Jarvis, 817-390-7664