Peer-Reviewed Study Shows Genetic Markers Can Help Identify Low-Risk Patients, Potentially Reducing Need for Repeated X-Rays and Physician Visits
Raynham, MA – (December 1, 2010) –A new study shows the SCOLISCORE™ AIS Prognostic Test, a DNA test to determine the likelihood of curve progression in children with mild adolescent idiopathic scoliosis (AIS), an abnormal curvature of the spine, is 99 percent accurate in predicting which children are least likely to progress to a severe curve (Cobb Angle of 40 degrees or more). 
Researchers analyzed DNA samples and medical records of nearly 700 patients from over 100 clinical sites throughout the United States. Their findings appear in the December 1, 2010 online edition of SPINE, a leading international, peer-reviewed journal.
“This study demonstrates that for the first time genetic factors can be used to accurately quantify the risk of scoliosis curve progression," said Kenneth Ward, MD, study co-author and chief scientific officer of Axial Biotech, Inc., the developer of the test and the laboratory that conducts the DNA analysis used in the SCOLISCORE Test. "Physicians never had this kind of information before. Now that they do, physicians can better personalize treatment plans and provide peace of mind to patients and their families."
When a child is diagnosed with mild AIS, it is very difficult for physicians to predict if that curve will progress to a more severe form of the condition, which may require surgery or other treatments. The SCOLISCORE Test, when combined with other radiographic and clinical information obtained at the time of diagnosis, is designed to help reduce that uncertainty, and may help patients reduce the need for repeated doctor visits, physical examinations and years of frequent x-rays.
Researchers studied 697 Caucasian patients between the ages of 9 and 13 who had mild, moderate or severe AIS, as documented by medical records. DNA from their saliva was analyzed using the SCOLISCORE Test, which produces a score of 1 to 200 indicating a patient's individual risk for developing a spinal curve of more than 40 degrees. A score of 50 or less is classified as low risk, 51 to 180 is intermediate risk and 181 to 200 is high risk. The score is calculated based on 53 genetic markers previously identified as being associated with scoliosis progression and the patient's current spinal curve or Cobb angle.
The study found the SCOLISCORE Test had a 99 percent accuracy rate in identifying low-risk patients, those least likely to progress to a curve of 40 degrees or more.  Study authors advise that although the SCOLISCORE Test is accurate for patients who score in the intermediate- or high-risk range, they should be followed closely by a scoliosis specialist since the study was designed to determine negative predictive value rather than likelihood of progression.
According to the National Scoliosis Foundation (NSF), scoliosis affects about 7 million people, mostly children, but studies show that only 1 to 4 percent of patients diagnosed with scoliosis experience curve progression severe enough to warrant surgery (curves of 45 degrees or more). However, most children with mild AIS (curves of 25 degrees or less) are regularly monitored for possible progression until they stop growing. This generally means x-rays and physical examinations every four to six months over a period of several years. In some cases, children wear a brace in an attempt to slow or stop possible curve progression.
“Scoliosis can be a devastating diagnosis for children and their families. They all fear the worst. Now we can reduce that fear for most patients since most patients are at low risk for severe curve progression," said Harry L. Shufflebarger, MD,* director of the Division of Pediatric Spine Surgery at Miami Children’s Hospital, a scoliosis specialist who helped recruit patients for the study, but was not involved in analyzing the study results. "It's important however to remember, that while the SCOLISCORE Test gives us important information, the results of the test must be interpreted in the context of all other clinical and diagnostic information when developing management plans and setting expectations for patients."
Though suspected for many years, only recently have studies demonstrated that AIS has a strong genetic component. Building on this knowledge, researchers reviewed the medical and DNA records of more than 9,500 scoliosis patients and their family members. This led to the development of the SCOLISCORE Test, which is now offered at more than 150 spine centers in the United States. More information about the SCOLISCORE Test can be found by visiting www.scoliscore.com.
“Parents are often frightened, and frustrated, because they don’t know what to do to help their child with scoliosis. The SCOLISCORE Test provides information that helps reduce the family’s anxiety, and gives orthopedic spine specialists an important and reliable clinical tool that helps them provide more individualized care at the time of initial diagnosis," said Joe O'Brien, President, National Scoliosis Foundation (NSF).
The SCOLISCORE Test is the first commercially available genetic test for a spinal deformity and is intended for Caucasian children between age 9 and 13 diagnosed with mild AIS (10°-25° Cobb Angle). Currently, the SCOLISCORE Test is offered only to Caucasian patients because despite aggressive targeted recruitment efforts of patients of all races for inclusion in the study, sufficient sample sizes were only obtained for Caucasian children. The study authors report that other racial groups will be the subject of future studies.
Unlike other genetic tests, the SCOLISCORE Test helps predict the risk of progression to a more severe curve once AIS is diagnosed. It does not predict an individual's susceptibility to inherit the condition, or the final outcome of a patient’s progression. The SCOLISCORE Test is distributed by DePuy Spine.
The study published in SPINE was led by Dr. Ward, James W. Ogilvie, MD, their colleagues at Axial Biotech and Gordon Engler, MD from the University of Southern California, University Hospital in Los Angeles. The study was funded by Axial Biotech, Inc.