Displaying items by tag: Scoliosis genetic testing

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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 right in line with other genetic tests ($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 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 SCOLIOSIS BRACE TREATMENT.

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

So how do we keep Scoliscore from being utilized as a high-tech paperweight?

I must admit, I’m a little taken back by the level of resistance I’m seeing from much of the orthopedic community 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.”

The traditional cobb angle directed treatment plan 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. That is why we have developed an 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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Scoliosis spine treatment is confusing and getting more so by the day.  Scoliscore genetic testing for scoliosis, scoliosis blood test, 3-D CAT scan images, the recent boom in prognostic testing for idiopathic scoliosis has only served to further muddy the waters for parents whose experience with the condition thus far includes a 3-5 minute conversation with an orthopedic doctor who says “your child’s spine is crooked, where it should be straight”.

So where does one begin?  Well, at the beginning of course.  Idiopathic scoliosis is multi-factorial condition in which a person’s genetic predisposition and environmental influences (trauma, nutritional, infection, daily living habits, ect) combine to create the condition.  Approximately 80+% of scoliosis of spine cases occur between the ages of 9-14 and 7 times more frequently in females than males (which remains unknown, but it is believed to be due to the earlier timing of adolescent female growth spurts). 

Idiopathic scoliosis of spine seems to be stemming a neurological under-development in the brain stem that becomes apparent when the child’s skeletal growth out paces their ability to coordinate the pelvis, lower trunk, upper truck, and/or head position.  This neurological under-development is most likely the result of a genetically inherited combination.  It is important to note that these child’s brains aren’t broken, nor are they missing  pieces, they are appear to simply be under-developed; which means they can be neurologically “caught up” with a specialized neuro-muscular rehabilitation program that specifically targets the involuntary postural control centers in the brain.  This fundamentally and basic understanding of idiopathic scoliosis as primarily a neurological condition that has its primary effects on the scoliosis spine make the very essence of scoliosis brace treatment and scoliosis surgery obsolete. 

Current scoliosis treatment for scoliosis of spine mandates no scoliosis treatment of any kind (Observation only every 6 months), based on the clinical data showing “only” 20% of idiopathic scoliosis of spine case progress to a significant degree.  Unfortunately, that is little comfort to those 20% whom do develop progressive curvatures and only slightly more comfort to the 80% of cases whom live in a state of fear and anxiety for the next 4-5 years hoping they aren’t part of the other 20% of idiopathic scoliosis case that are progressive.  The problem in this situation has always been how can we separate out the 20% likely progressors from the 80% non-progressors?  That’s where the scoliscore genetic testing for scoliosis comes in.  It can very accurately predict the genetic likelihood of a scoliosis spine progressing to the scoliosis surgery threshold.  The information from the scoliscore genetic test for scoliosis can be combined with the environmental influences provides the patient and parents with a comprehensive and accurate outlook on the scoliosis of spine condition.  Once armed with this information, a scoliosis treatment plan can focus an appropriate amount of attention and invasiveness towards reducing and minimizing the impact of the environmental factors which combine with the genetic predisposition and cause the scoliosis of spine to begin progressing regardless of scoliosis brace treatment and possibly leading to scoliosis surgery.  However, it one can successfully dis-engage enough of the environmental influences from the genetic predisposition it is conceivably possible to alter the natural course of the condition and even one day lead to a cure for idiopathic scoliosis.

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Scoliosis of spine is a mulit-factorial condition with both genetic predisposition and environmental factors combining to produce the disease named "Scoliosis".  Certain individuals have greater genetic pre-disposition than others and certain individuals are exposed to more environmental factors than others.  A mixture of too much of one or the other spells trouble.

 

However, not all it lost.  When one applies this understanding of scoliosis as multi-factorial condition it becomes clear that we can alter the natural course of the condition by simply altering one or both of the components that actually cause the condition (genetic predisposition and environmental factors).....Especially now, since  scoliosis genetic testing (Scoliscore) for predisposition is now available. 

 

For the first time in human history we can now predict whom is most at risk for developing severe scoliosis and implement a personalized and customized scoliosis treatment plan that is intended not to reduce the spinal curvature (which is the intended goal), but to reduce and minimize the environmental factors that are engaging the genetic predisposition that is causing the condition.  That's right folks, we're talking about a pathway to a potential cure for scoliosis!  It's truly an amazing breakthrough in both thought and technology. 

 

Scoliosis brace treatment fails to alter the natural course of the condition simply because it fails to reduce or eliminate ANY of the environmental factors that combine with the genetic pre-disposition that cause the condition.  Scoliosis surgery completely disregards any attempt to even treat the cause of idiopathic scoliosis at all and relies on brute forced correction to artificially hold the spine straight(er).

 

None of the current “main-stream” scoliosis spine treatment (scoliosis brace treatment or scoliosis surgery) approaches will ever lead us to a cure or a better way to treat scoliosis....ever.  So why do we continue to do it?  Well, new ideas (even when they are good ones) aren’t always readily accepted at first…..especially when they contradict the conventional wisdom that many fortunes and academic reputations have be built and based upon.

How do we break the cycle of failed scoliosis treatment? 

It has been said that no system can reform itself and that is probably true.  Asking the orthopedic community to cut their financial throats and admit complete and utter incompetence in the field of scoliosis treatment isn’t likely to happen anytime soon, so a change in the future of scoliosis treatment will most likely come from grass roots efforts in articles like this one and technological breakthroughs like Scoliscore genetic testing and the upcoming scoliosis blood test which will allow researchers to test and demonstrate the effectiveness (or lack thereof in the case of scoliosis brace treatment and scoliosis surgery) of a scoliosis treatment’s ability  to bend the natural course of the condition towards a cure.

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Scoliosis genetic and blood tests pave the way for early stage scoliosis intervention in the future.

 

The treatment of idiopathic scoliosis, particularly brace and surgical treatment, has been controversial. It has been difficult to determine which patients were going to progress, and who would benefit from conservative treatment (scoliosis exercise, bracing, etc.) or "require" surgery.

Genetic testing now available, that will help answer some of the questions. An analysis of 53 DNA markers associated with scoliosis has allowed determination of three specific groups of patients: no risk for progression, moderate risk, and those that will progress to 45 degrees or more and probably require surgery. When this testing is available, it may change the entire paradigm of management of scoliosis. Those that will not require treatment will need to be followed only periodically for confirmation. Those that are in-between will still require periodic evaluation and may benefit by conservative methods of treatment, such as physical therapy and bracing. Those in the high risk category for curve progression, may have earlier surgical intervention involving fusionless techniques.

This will make the application of growth modulation techniques, such as, vertebral body stapling, more applicable. This may be effective in controlling curve progression until skeletal maturity, at which time the staples could be removed or perhaps even left in place. As a consequence, spinal mobility will not have been affected but curve progression will have been prevented. Further refinement of genetic testing may ultimately identify those patients who will benefit by physical therapy or bracing, so that these treatments can be begun at the earliest possible stage to maximize their effectiveness.

 

The eagerly awaited scoliosis blood test which measures level of osteopontin (OPN) will hopefully we used in conjunction with the patient's genetic risk analysis and can be used to determine how effective a conservative treatment approach may be for any given patient before they fail therapeutic trial.

Scoliosis is a condition with both genetic and environmental components (Nature vs. Nurture).  Any basic algebra student can tell you that an equation with 2 unknown variables can't be solved and this is why trying to figure out which patients needed which treatments was almost impossible to do with any amount of accuracy. Until now, the Scoliscore test can provide us with the necessary genetic part of the equation and we can now focus on elimination of the environmental aspects of the condition (since altering the genetic component is currently impossible).....this means we can actually start working towards a cure through early stage intervention and elimination of environmental factors.

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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.