Genetic test to predict risk of Scoliosis progression in girls
Despite decades of effort to improve the evaluation and treatment of scoliosis, the inaccuracy of determining risk of progression remains one of the greatest issues negatively impacting the overall care of this condition. A new and accurate method of determining risk of progression for scoliosis significantly improves the ability to determine this risk.
Effective mid-December 2008, the department of orthopaedics and rehabilitation at Fletcher Allen Health Care became one of 23 centers nationwide field-testing a genetic test that has been developed to predict the degree to which idiopathic scoliosis will progress in girls aged 9 to 13 years who have been diagnosed with the disease.
This painless spit test allows early intervention for those at risk of spinal curve progression and eliminates the need for repeated x-rays for girls identified as unlikely to develop a severe spinal curve.
John T. Braun, M.D., associate professor at the University of Vermont College of Medicine and Fletcher Allen orthopaedic surgeon, is the principal developer of the genetic test and is overseeing the field test. He is also a co-founder of the company, Axial Biotech, which currently offers the test free of charge.
Adolescent Idiopathic Scoliosis is the most common spinal deformity in children, affecting 13 to 26 million adolescents worldwide. Girls are five times more likely than boys to develop this condition. Statistics show that 10 of 100 children diagnosed with scoliosis will progress to wearing a brace and that 1 in 100 of those children will progress to needing major corrective surgery.
The genetic test determines which girls aged 9 to 13, who have been diagnosed with idiopathic scoliosis, are likely to progress to a severe spinal curve that would eventually require surgery. The test has been fully developed and the testing laboratory at Axial Biotech has been approved by the Clinical Laboratory Improvement Amendments Program, overseen by the Division of Laboratory Services within the Centers for Medicare & Medicaid Services (CMS).
The genetic test requires the patient to submit a saliva sample, which is analyzed and the results returned to the physician who submitted the sample. The patient makes two office visits, one to provide the sample and another visit to review the results with the physician.
The field test, expected to last 6 months, will help the developers of the genetic test to assess the systems and processes that have been developed for collecting, delivering and processing saliva samples, and then reporting results to providers to share with patients and families. The genetic test will be administered at no cost during this field test time period. Information about the test is available at http://www.fletcherallen.org/OrthoRehab/scoliiosis.html
