Displaying items by tag: Scoliscore genetic testing

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Is Scoliscore going to be utilized as a high-tech paperweight?

 

I must admit, I’m a little taken back by the level of resistance I’m seeing in regards to the use of the Scoliscore AIS prognostic test and how it will (or actually won’t) effect treatment decisions for early stage scoliosis patients. I’m even left scratching my head after watching the patient testimonial video on the www.scoliscore.com website entitled “Isabelle’s story”.

 

http://www.scoliscore.com/patient-re...0/Default.aspx

 

The patient (Isabelle) is diagnosed with early stage scoliosis and isn’t immediately tested with the Scoliscore test. Instead she is placed into the age old “watch & wait” mentality. The doctor only recommends the use of the Scoliscore test AFTER she has experienced a “big curve increase” following a growth spurt! They immediately put her in a rigid brace (again, following the same old AIS treatment protocol) before determining her genetic risk for progression with the Scoliscore test.

The test results come back and she has a Scoliscore of 16 (very low genetic risk for curve progression to a surgical level), which begs the question…..So then why did she experience the “big curve increase” following the growth spurt? I mean, it’s great that she has a low genetic risk for developing a severe curvature (40+ degrees), but the “big curve increase” during the growth spurt was certainly less than optimal or desirable. She obviously has a very high environmental factors risk that is going completely unaddressed (and will continue to be unaddressed in the rigid brace they prescribed to her in the video). Incredibility enough, at the end of the video they in a large part use the genetic risk factor evaluation in the decision to discontinue ANY forum of treatment in Isabelle’s case, so she can go off to summer camp, without the brace (which probably wouldn’t have helped anyway since it doesn’t reduce or eliminate the environmental risk factors that are obviously driving her curve progression to this point), so she can engage in dance and swimming……Two known high risk activities for AIS patients! Ahhh!

This just goes to show that the most incredible technological advancements can be defeated by incompetence or an unwillingness to adapt to change.

 

I can’t tell you have many conversations I have with colleagues of mine (within the CLEAR Institute even!) and orthopedic scoliosis specialists who have a SERIOUS case of the “that’s the way we do things around here” syndrome in regards to adapting their treatment plans in accordance with the vast advantage the information from the Scoliscore test provides. They look at me and say, “well, it’s certainly nice information to have, but it isn’t going to change my treatment plan in anyway.” WHAT!?! I respond back to them with “so your planning on treating a AIS patient with a Scoliscore of 200 (the highest level) exactly the same as a AIS patient with a Scoliscore of 20 (very low genetic risk)?” A blank stare is the only response I have gotten from anyone to this point.

 

Think about it in a metaphoric sense. Would you react differently if you saw a child standing 20 feet off the rail road tracks as a train was bearing down on them, than a child standing ON THE TRACKS as the rail rolled towards them? I would certainly hope so. Neither case is ideal, but the two situations certainly warrant different responses.

 

The Scoliscore AIS prognostic genetic test will serve the patient about as much as a high tech paperweight if it isn’t utilized (in conjunction with evaluation of environmental risk factors…not the end result factors….Aka: Cobb angle) to fundamentally change the patient’s treatment plan and/or treatment options.

 

I think Helen Keller said it best: “The only thing worse than blindness is a person with no vision.”

I have (again) attached a flow chart depicting the traditional cobb angle directed treatment plan that attempts to solve the AIS problem without knowing the genetic risk or environmental risks of the patient, so every patient with similar cobb angles are treated the same reactionary way until it is too late and the curve progresses. And the alternative Scoliscore directed treatment plan in which the treatment plan and follow-up evaluations are personalized according to the patient’s individual genetic and environmental risk factors. The alternative pathway also provides 100% of high risk patients the opportunity to utilize guided bone growth type treatment strategies, if deemed necessary, (as well as environmental factor reduction strategies) to the most beneficial degree possible.


Scoliscore testing and reduction/elimination of environmental factors in the early stage of AIS can finally give us the power to alter the natural course of the condition and honestly tell AIS patients that we are working towards an actual “cure” for the first time.

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I'm sure many of you have heard about the scoliscore genetic profile test from Axial biotech. My test kits have just arrived and I've finished going through all the literature.....overall, I think it could prove to be very useful in the context of early stage scoliosis intervention/treatment.

 

The parameters for the test are as follows....
-Caucasian decent (They tell me other ethnic profiles will be available soon)
-Ages 9-13 (the will test up to 14 or 15 years of age if the patient hasn't reached skeletal maturity)
-Cobb angle B/W 10-25 degrees

 

Basically, the test compares the patients genetic markers against 53 other markers that have been identified as high risk from the profile of 1000's of patients whose curves progressed beyond 40 degrees before skeletal maturity. The more marker matches to the profile the higher the risk.

The list price of the test is a little steep ($2,900), but it is readily covered by insurance and they have financial assistance programs for those who qualify.

They claim the test is 99% accurate (seems a little too good to be true) at determining whether or not the curvature will reach surgical threshold (40-45 degrees) while the patient is skeletally immature. That is all it measures. A 15 degree curve could still progress to a 39 degree curve with a low risk on the scoliscore test.

Here is the real pay off in my mind. Patients who have a low or intermediate risk according to scoliscore don't even need to see an orthopedist for their condition. Plus, just think of the anxiety it will reduce for patients and parents alike....AND the x-ray monitoring schedule can be completely re-thought for low/intermediate risk cases vs. high risk cases.

A non-high risk scoliscore patient can be managed entirely with an active rehab program during the condition's early stages to minimize and reduce the risk and effect of the condition on body image/disfigurement.


Early stage scoliosis detection and intervention = The DEATH OF SPINAL BRACING.


Given the fact the bracing is only intended to reduce the "need" for scoliosis surgery (with studies show it has no effect on) and that the 3-D CAT scans are finding the rigid braces probably are actually worsening the rib cage rotation (increasing the body disfigurement)......It would seem the days of back bracing are severely numbered.

Only 1% (the high risk group) should even consider spinal bracing......and even that is most likely a waste of time.

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What role do environmental factors play in scoliosis?

 

Scoliosis is a complex condition that involves both genetic and environmental factors.  The more a patient is genetically pre-disposed to developing the condition the less environmental factors they will need to incur to before developing scoliosis.  Of course the opposite is true as well.  A patient with a low pre-disposal for genetic factors for scoliosis, but high environmental factors galore may also have the same overall risk of developing the condition and the genetically high risk patient.

 

We can't change our genes (yet), so we are left with only having the ability to reduce/eliminate the environmental factors that (when combined with genetic factors) cause Adolescent Idiopathic Scoliosis (AIS).

 

So how much affect do environmental factors have on scoliosis?  Well, let's look at it from this perspective.

 

Approximately 4% of all scoliosis cases chose to have the spinal fusion surgical procedure (and that doesn't include the patients who refuse the procedure) and the Scoliscore genetic test predicts that only 1% of patients should have the genetic pre-disposition to develop a curvature that would reach surgical level.

 

The conclusion:  At least 3% of the 4% of AIS cases going to spinal fusion surgery are due to environmental factors driving the condition, not just genetic pre-disposition.