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Scoliosis Assessment – The ScoliScore Test

ScoliScore No Longer Available – What became of the Genetic Test?

genetics and scoliosis

ScoliScore AIS Prognostic Test was a genetic test, which analyzed the DNA of patients who are diagnosed with Adolescent Idiopathic Scoliosis. The test was purported to show the likelihood of spinal curve progression to distinguish between patients who are likely to progress to a severe curve (greater than 45 degrees), and those who might not. This would give doctors and patients the ability to gauge how likely it is that a patient’s spine would become more curved.


High Hopes for the ScoliScore Test

Approximately 85-90% of patients initially diagnosed with AIS will never have their mild scoliotic curve progress to a magnitude that requires surgical treatment (over 60-70 degrees). The ScoliScore test was believed to predict, with over 99% probability, when a mild scoliotic curve is unlikely to progress to these very large sizes. The current clinical factors used to predict the likelihood of curve progression to the point of requiring surgery (a combination of age, Cobb angle, Risser score, and x-ray results) are observational. There was high hopes that the ScoliScore test would help physicians predict spinal curvature through one test, accomplishing what was previously only possible through years of observation.

scoliscore testGenetic research behind the ScoliScore AIS Prognostic Test began in 2003. Researchers explored the entire human genome searching for genes that were linked to Scoliosis. DNA samples from over 9,000 patients from 85 clinics worldwide were analyzed. The researchers identified 53 genetic markers (or mistakes in the DNA) that are linked to AIS. Researchers identified 28 signs in DNA that an AIS curve will progress (progressive genes), and 25 signs in DNA that an AIS curve will not progress (protective genes).

Lab workers used special equipment to read each of those 53 genetic markers. The test results were given in a ScoliScore, a numerical value falling into one of three categories: mild risk, intermediate risk, or severe risk of curve progression.

So What was the Problem?

The ability of the Scoliscore Test to predict whether a curve would progress WAS demonstrated in clinical studies involving multiple samples of children with AIS. However, the company that owned the test refused to release its algorithm for genetic analysis. Not only that, but an independent study failed to replicate the association of the 53 genetic markers with progression of adolescent idiopathic scoliosis in a Japanese population.

“We evaluated the progression (N = 600) and nonprogression (N = 1114) subjects. Their risk allele frequencies were not different significantly. We found no replication of the association on AIS curve progression in any of the SNPs.” (Jul 2013)

Some believed this study failed due to ethnicity of the population used since ScoliScore was originally researched with “self-reported as Caucasian (including patients of North American, South American, European, Eastern European, Middle Eastern, or South West Asian descent)”.  Then in 2015, ScoliScore failed for a second time in an independent analysis conducted by a French-Canadian team. This may have been the nail in the coffin.

“There was no significant difference between the severe group and the non-severe group or between the severe group and the control group.  Conclusions. Although the 52 SNPs studied here were previously associated with curve progression in an American population of European descent, we found no association in French-Canadian AIS patients. This second replication cohort suggests that the lack of association of these SNPs in a Japanese cohort is not due to ethnicity.” (Feb 2015)

The ScoliScore test was originally developed by Axial Biotech, Inc. and distributed by DePuy Spine, a Johnson & Johnson company. It was first made available in a few physicians offices in September, 2009, and became commercially launched in 2010. In 2012, Transgenomic purchased The ScoliScore test from Axial Biotech for $4.4 million. In December of 2015, Transgenomic announced that it had “completed the divestment of its Genetic Assays & Platforms (GAP) Business Unit to ADSTEC Corporation, and one of its affiliates (ADSTEC).” Divestment, or divestiture, is the process of selling off secondary  business interests or investments for financial, ethical, or political objectives or the sale of an existing business by a firm. Transgenomic “transferred all rights to its GAP products, licenses, technology, know-how and trademarks, along with associated product inventory, to ADSTEC. ADSTEC has assumed the business, financial and human resource commitments of the GAP Business Unit and paid Transgenomic $300,000 for its existing stock and inventory”.

Sources [1] [2] [3] [4] [5] [6] [7]