Genetic testing for scoliosis – does it work?

As has been reported elsewhere – see – scoliosis is at least partly genetic, so it is to be expected that genetic tests can be developed that can indicate the likelihood of developing scoliosis and / or the likelihood of curve progression.

Indeed, in 2010, research results were published by Ward, Ogilvie et al (Validation of DNA-based prognostic testing to predict spinal curve progression in adolescent idiopathic scoliosis), documenting that a genetic test could be made that would predict the likelihood of curve progression. The research was sponsored by the company behind the later genetic test, to be called Scoliscore. Axial Biotech (founded by Kenneth Ward) later sold the Scoliscore technology to Transgenomic, see here.

The story behind the development of Scoliscore is described in detail here. Interestingly, more than 9500 scoliosis patients were tested during the development. 53 genetic markers that may influence the progression of scoliosis were identified.

The Scoliscore test yields a result between 1-200 – called the Risk of Progression Score. Scores from 1 to 50 are classified as low risk. 51 to 180 are intermediate risk and 181 to 200 are high risk. A low risk score is documented (by the above research papers) to predict with 99% certainty that scoliosis will not progress to a severe curve. The price of the test is $2950.

Therefore, the test has been used in several cases to determine whether a child with developing scoliosis should undergo brace treatment or not. If the risk score is lower than 50, it seems highly unlikely that the scoliosis will progress to a severe curve, so the stress and suffering of undergoing years of brace treatment may be avoided. Some of these stories are described, Marissa, Sara, and unknown (case study).

Since 2010 where Scoliscore was put on the market, more research has been done. Here is an independent study that indicates that Scoliscore does provide more information than a simple observation of the curves in order to predict the progression of scoliosis (article).

However, as can be seenĀ here from the insurance company Aetna, Scoliscore is still considered experimental because the effectiveness has not been (well enough) established.

So what is up and down? Should the Scoliscore genetic test be trusted? The company results are extremely promising and the test really seem to be able to provide a lot of value in order to determine if your child should undergo bracing or not (or undergo limited or more significant bracing).

Recently, in 2015, however, some negative results regarding Scoliscore have started to come in.

On this page, it is described how the company behind Scoliscore, Axial Biotech, was liquidated in 2013 and how Transgenomic purchased the rights for Scoliscore during the liquidation. Dr. Ward apparently no longer works in the field of scoliosis. The page refers to two independent studies that fail to validate Scoliscore, an article from 2013, and another article here from 2015. I was able to identify a third (very recent) study here.

So at this stage I would not personally invest in the Scoliscore test for my two daughters (pre-teen), in particular since I wouldn’t trust the reported score in order to decide whether to brace or not (or how to brace). So we will have to await further validation of the test before coming to any conclusions.

To end on a positive note, some new genetic research has recently been published that may in fact enable us to predict scoliosis – instead of just predicting the severity of progression. Read about it here.

2 thoughts on “Genetic testing for scoliosis – does it work?

  1. I have Proven Without a Doubt, ALL Scoliosis is Caused By an INJURY!!! With the Spectacularly Wonderful Results, attained with my child. After Having to Watch Such Horrible Progression, while treatment was given by the Medical Community. During the year of treatment. Which I was not only able to Completely Stop, but Reduce the Angle. http://WWW.SCOLIOSISPREVENTION.ORG

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