Adolescent idiopathic scoliosis and genetic testing

Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity affecting 2% of the population. Initial diagnosis is straightforward. Determining which curves will progress and warrant intervention is still problematic. Recent genetics research has discovered markers that are associated with progression to a severe curve, providing new information that can lead to more effective care with lower cost and fewer unnecessary radiographs and brace applications.

Current family studies indicate that AIS is a polygenic disorder with multiple patterns of inheritance. Genetic markers have been identified that are related to AIS curve progression to a severity in which surgery is often performed (under review 2009). These genetic markers have been validated in white girls and boys but are not yet confirmed in Asians or African-Americans. These markers provide a basis for calculating the risk of progression in a score-based model, thus enabling personalized medical decisions. Further research following these discoveries may lead to an understanding of the underlying molecular biology of AIS.

Genetic markers have been identified that are associated with progression to a severe curve in AIS patients. A risk of progression score can be calculated using these saliva-based DNA markers that risk stratifies patients on a scale of 1-200. This AIS progression test enables personalized medical decisions for treatment algorithms and improves the quality of care by allowing evidence-based management decisions.