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Adolescent Idiopathic Scoliosis & Genetics

The development of Adolescent Idiopathic Scoliosis appears to be highly dependent on genetics as well as to the unique biomechanics of the spine. A number of population based studies document that scoliosis runs within families and that a higher prevalence of scoliosis exists among relatives of patients with scoliosis than within the general population. Many factors may be related to the development of idiopathic scoliosis and no single cause has been identified at this time. However, a number of recent breakthroughs in research has identify a host of genes that play a role in the development of adolescent idiopathic scoliosis. Physicians can now more accurately predict the prognosis for patients with scoliosis through genetic testing to offer more science based, personalized patient care decisions for prognosis and treatment options.

The ScoliScore™ Test

The ScoliScore™ Test is the first clinically validated and highly accurate genetic test for Adolescent Idiopathic Scoliosis curve progression. ScoliScore™ is a DNA test that can indicate the likelihood of progression into a severe curve for children diagnosed with idiopathic scoliosis. This test is appropriate for children nine to thirteen years of age with a mild to moderate curve who are self reported Caucasian males and females. The test is performed simply and pain-free by analyzing the patient’s saliva which is collected in the office. The ScoliScore™ Test analyzes 53 genetic markers correlated with curve progression and has a 99% negative predictive value in determining the risk of progression. The test was developed in collaboration with over 110 clinicians worldwide, was designed through the analysis of over 10,000 patient samples and was validated in three multi-center independent clinical trials.

Results

ScoliScore™ assigns a number from 1-200 to indicate a low, medium or high risk likelihood for curve progression. The assigned number is based upon the child’s DNA and their current Cobb angle (angle of the curve on scoliosis x-rays). This test is revolutionary as it allows the child and parents to have a more reliable indicator of their child’s future spinal health. Risk stratification combined with family history, current status and remaining growth left allows for a customized treatment discussion which may allow for reduced x-ray exposure and altered follow-up frequency. Dr. Good has been on the forefront as one of the first physicians in Virginia to explore genetic testing and counseling for scoliosis. Dr. Good uses Scoliscore when appropriate to assist in predicting a teenagers risk of scoliosis curve progression.

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