DNA testing to predict scoliosis severity

There has been much talk about the coming of “personalized medicine”, which has been made possible by the sequencing of the human genome as well as more recent studies characterizing millions of common genetic variants (known as “SNPs” in genetics lingo) and associating those variants with simple and complex diseases and disorders.  One example of how personalized medicine might be used is provided in the December issue of the journal “Spine” (also described in an msnbc story here).  The study [Ward et al, 2010], by a group that has been identifying and studying genes that contribute to scoliosis, validates the use of a panel of 53 genetic markers, in combination with clinical and X-ray data, to predict whether typical teens with mild scoliosis have a low, intermediate or high risk of progressing to a severe (more than 40 degrees) curvature. The test is best at figuring out which kids are at a low risk of progressing – which it does with 99% accuracy in the study population.

Could this test have any relevance to the PWS population, where the incidence of scoliosis has been reported at up to 80% of young adults? (see FPWR's Conference Update  for more on scoliosis in PWS).   The “ScoliScore” test was developed for “idiopathic” (ie, no known cause) adolescent scoliosis, that is, the typical scoliosis that just seems to happen in some teens.  It’s certainly plausible, and perhaps even likely, that the underlying reason for scoliosis in kids with PWS is different than in typical teens, so it’s certainly not a given that the test could be applied to those with PWS.   However, it’s also not unreasonable to expect that some of the gene variants that modify risk for progression of curvature in typical teens might also be at play in those with PWS. 

This finding provides an example of how a central PWS DNA biorepository with associated clinical data might be useful.  If such a resource existed, it would be logistically simple (although maybe not inexpensive, given the cost of the test) to analyze all of the DNA samples and the accompanying clinical data regarding the incidence and severity of scoliosis to see if this test might hold any predictive power in the PWS population.  Given that the high risk of complications from scoliosis surgery in this patient population, such information might help guide clinical decision making.