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Thread: DNA test for scoliosis

  1. #31
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    Dizygotic Twins

    1997: Idiopathic scoliosis in twins

    We investigated 21 pairs of twins for zygosity and idiopathic scoliosis. DNA fingerprinting confirmed that 13 pairs were monozygotic and eight were dizygotic. There was concordance for idiopathic scoliosis in 92.3% of monozygotic and 62.5% of dizygotic twins.
    What's a Dizygotic (fraternal) twin?

    Dizygotic (fraternal) Twins
    When two eggs are independently fertilized by two different sperm cells, DZ twins result.
    DZ twins are simply brothers and/or sisters who happen to be the same age.
    Does anyone on here believe that brothers and sisters are typically 62.5% concordant for Scoliosis? Put simply if a child has Scoliosis every one of his brothers and sisters has a roughly 2 out of 3 chance to also have Scoliosis.

    That's not just bunk, that's UBER-bunk!
    Last edited by Dingo; 11-15-2009 at 10:09 AM.

  2. #32
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    Quote Originally Posted by LindaRacine View Post
    Imagine that... FixScoliosis using the Scoliscore test. How can insurance companies justify reimbursing him for the test, when there's no proof that he can do anything with the results?

    It's really pissing me off that reknowned surgeons are routinely having reimbursement for scoliosis surgeries denied (and then approved when challenged), but chiropractors can get a Scolioscore test reimbursed. Ridiculous. It shouldn't surprise us that spine centers around the country have to have more insurance billers on staff than surgeons.

    --Linda

    I agree, pretty ridiculous. It hopefully wouldn't get reimbursed if submitted , because as we all know, there probably would be no way they wouldn't treat someone based on the test results if they were low scores, and they certainly don't have a decision to make regarding bracing. And the Spinecor chiros want to brace immediately, no matter how small the size, so the test does nothing for them either.

    I suspect it might be considered insurance fraud should it be submitted, as it would be ordering unnecessary tests that would not be used to take any different course of action than what the norm is. I'm sure the insurance companies will be looking into three thousand dollar tests!

  3. #33
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    Quote Originally Posted by mamamax View Post
    The reason I gave that link is this: it provided some interesting information provided in the kit, from someone using the kit. More information that I could find at the manufacturer's web site. Specifically:

    Test Parameters
    Caucasian decent only
    Ages 9-13 (up to 14 or 15 years of age if the patient hasn't reached skeletal maturity)
    Cobb angle 10-25 degrees

    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 $2,900 is and covered by insurance.

    Test claims to be 99% accurate and only determines whether or not the curvature will reach surgical threshold (40-45 degrees) while the patient is skeletally immature.

    Looks like this test hopes to identify those who will progress to surgical needs and eliminate those who won't (among those who are not skeletally mature). I think that proof that it works 99% of the time (or proof that it doesn't work), is a few years down the road.

    The Manufacturer states that the data used in developing this test is comes from 9,500 patients. They also state that 100,000 cases of AIS are diagnosed per year. Once we have all of these diagnoses on file (using this test) over a period of several years, we will know more.

    At this point - looks very limited to me - and not necessarily all that we may want it to be - at this time.

    Manufacturer's web site: http://www.axialbiotech.com/company/find/press/2009/16


    Hi Mamamax,

    Yes, that is very interesting information. Thanks for posting.

    It's this that made my blood boil :

    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 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.

    <--- This is me being very happy for all of the future scoliosis patients!
    He thinks there's no need to see an orthopedist and everything can just be managed by the chiros...he's licking his chops at this he's so happy totally misinterpreting everything. Ugh.

  4. #34
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    Quote Originally Posted by Ballet Mom View Post
    Hi Mamamax,

    Yes, that is very interesting information. Thanks for posting.

    It's this that made my blood boil :



    He thinks there's no need to see an orthopedist and everything can just be managed by the chiros...he's licking his chops at this he's so happy totally misinterpreting everything. Ugh.
    Thanks Ballet Mom - the information (found in the kit) takes more precedence over any emotion I may feel as a result of one person's interpretation of it - even if I strongly disagree with said interpretation ;-)

    Here's what I really think about this test - it is way too early to use it as a treatment tool and at this point I see it as nothing more than investigational and experimental. It may be the beginning of the formation of a large database of information that could prove useful in the future. A price tag of $2,900 is ... absurd, in my humble opinion.

    Hmmm ... the manufacturer states that 100,000 cases of AIS are diagnosed yearly, if the majority of these become test participants (largely funded by the insurance industry in the hopes of better defining, or excluding, those who are candidates for very expensive surgery) - that's a lot of money!! Where is that money going?

    I might feel a bit better about its price tag if someone could tell me the money was being reinvested in research. That is if Dingo had the majority vote in the budgeting :-)


  5. #35
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    Quote Originally Posted by mamamax View Post
    Hmmm ... the manufacturer states that 100,000 cases of AIS are diagnosed yearly, if the majority of these become test participants (largely funded by the insurance industry in the hopes of better defining, or excluding, those who are candidates for very expensive surgery) - that's a lot of money!! Where is that money going?

    I might feel a bit better about its price tag if someone could tell me the money was being reinvested in research. That is if Dingo had the majority vote in the budgeting :-)
    Well most of that money is going towards the analysis. But I just read that the cost of doing this type of work is coming down. If so, I would expect the cost of this test would come down commensurately. If not then the overage might be going into housing on Tahiti, in Monaco, etc.

    No actually, I think the insurance companies have people who know damn well what this analysis actually costs and might only reimburse for that amount.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  6. #36
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    For under $300 it is possible to obtain a lot more information about my genetic disposition: https://www.familytreedna.com/

    So yes, I do question the price tag (and the reliability of) this DNA analysis which is limited to (1) the Caucasian decent only (2) the skeletally immature; and which is based upon a relatively small collection of data.

    And another point - not all AIS is genetic, genetics is only one factor that determines the health (or lack thereof) for anyone. The other factors that effect health (explained to me by a medical doctor) are: environment, life style, and world view.

    Maybe this new testing will one day lead to identifying all the many causes of AIS (which total well over 70 in number at this point), and the best treatments for each. That would be good - and well worth the cost, IF that is what it eventually does. Guess we'll see. For now, my main concern is that the test - is a test, and not something we can rely on 100% - as evidenced up thread by those who were advised that curvature would probably not advance (based on this test), only to find that it did.

    As for insurance companies - they will always do whatever they believe best benefits them. I can get quite emotional knowing that my medical doctor may know the best treatment for me - but may not be able to offer me that treatment because, the insurance company disagrees. That is of course, another thread ;-)
    Last edited by mamamax; 11-15-2009 at 11:23 AM. Reason: typo

  7. #37
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    Quote Originally Posted by Pooka1 View Post
    Well most of that money is going towards the analysis. But I just read that the cost of doing this type of work is coming down. If so, I would expect the cost of this test would come down commensurately. If not then the overage might be going into housing on Tahiti, in Monaco, etc.
    Agreed - up to a point. I predict all sorts of committees will be formed - overages will be distributed among committee heads who will be allowed to work from home (due to technology) - and home will probably yes, be: Monaco, Tahita, etc.

    Then again maybe I'm just suffering a little apathy/angst over the fact that a cure seems so far away

  8. #38
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    Scoliscore

    This is from Mamamax's post

    The Manufacturer states that the data used in developing this test is comes from 9,500 patients. They also state that 100,000 cases of AIS are diagnosed per year. Once we have all of these diagnoses on file (using this test) over a period of several years, we will know more.
    I don't want to discount this test too much. It may turn out to be highly accurate. However the quote above indicates that the makers of the test may have no idea why their test is accurate. They are simply finding the genes that seem to correlate with curve progression in children who already have Scoliosis. For all anybody knows these genes may by significantly related to physical stature, i.e. Ectomorph, Endomorph and Mesomorph. And of course it doesn't take a $2,000 genetic test to know that a tall, skinny child has a greater risk of curve progression than a short, stocky child. It would be somewhat amusing if scientists invested millions of dollars to develop an expensive test that could detect if a child has genes that contribute to height and musculature.... something that could easily be determined visually by nonexperts.
    Last edited by Dingo; 11-15-2009 at 04:59 PM.

  9. #39
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    I would agree with that thought Dingo - that they may have no idea exactly why their test has any accuracy to it. I think they are looking to find out why - and patients will be paying for the research! Your sense of humor comes at a good time (regarding the hypothetical testing of the obvious). Thanks :-)

  10. #40
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    Quote Originally Posted by tonibunny View Post
    I also asked him about the melatonin/pineal gland thing but he said that he feels this is a dead end. I'm not sure why, as we didn't have time to discuss things in depth. He could be wrong about both, but I have a lot of respect for his opinion, he's very clued up.
    Well, I think once PETA catches wind of the "bipedalized" mice they might be expecting attacks on the labs especially since there is likely zero data showing that bipedalizing a quadruped is at all analogous to a biped.

    Just my opinion.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  11. #41
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    I've said it before. . .

    The scolioscore tests 53 DNA sequences. Each of which is not a good indicator of anything, so in combination, the still are not good indicators of anything.

    but lets pretend it is a good prognostic test for progression.

    You have scoliosis already. (no different with or without the test)
    You need to be monitored regularly (no different with or without the test)
    You will be braced based not on you genetic test, but on you actual curves and your doctor's preferences. (no different with or without the test)

    Save your money.

    p

  12. #42
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    Pnettro

    With my daughters experience with this test, I wholeheartedly agree with you. Save your money.

  13. #43
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    Quote Originally Posted by PNUTTRO View Post
    You will be braced based not on you genetic test, but on you actual curves and your doctor's preferences. (no different with or without the test)
    Actually, apparently Lonner is not bracing based on the test results (per that article). Now that assumes he would have braced absent the test results, something we don't know.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  14. #44
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    Quote Originally Posted by Dingo View Post
    Does anyone on here believe that brothers and sisters are typically 62.5% concordant for Scoliosis? Put simply if a child has Scoliosis every one of his brothers and sisters has a roughly 2 out of 3 chance to also have Scoliosis.
    I think you're right about that being too high. Especially since siblings only share on average 50% of the same genetic information.

    Do any of these twin studies break down the male/female differences? I think its relevant since females are affected at significantly higher rates.

    The numbers in the following reference look more realistic. I don't have an opinion about if it is right. Honestly, I am not interested in reading the whole paper. You can peel it apart. Pooka has a point that the Danish study is probably too low.




    Spine (Phila Pa 1976). 1997 Sep 1;22(17):2009-14; discussion 2015.
    Scoliosis in twins. A meta-analysis of the literature and report of six cases.

    Kesling KL, Reinker KA.

    Triple Army Medical Center, Honolulu, Hawaii, USA.

    STUDY DESIGN: This study is a meta-analysis of the world's literature on adolescent idiopathic scoliosis in monozygotic and dizygotic twins. Additionally, six previously unreported cases of scoliosis in twins are presented. OBJECTIVES: To compare and contrast the concordance, severity, and curve patterns in monozygotic and dizygotic twins with adolescent idiopathic scoliosis in an attempt to document a genetic etiology and delineate inheritance patterns for adolescent idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: There are numerous case reports of twins sets with adolescent idiopathic scoliosis. However, this data has not been previously analyzed as a single data base. METHODS: The literature was searched for cases of twins with adolescent idiopathic scoliosis, and six cases of patients treated by authors were added. One hundred cases of sets of twins were discovered, 68 of which had sufficient data for comparative analysis. Each set was evaluated for monozygosity, concordance of scoliosis, curve pattern, and severity of curve. RESULTS: Thirty-seven sets of twins were monozygous, and 31 sets were dizygous. Concordance was 73% among monozygous twins and 36% among dizygous twins. The difference is statistically significant at P < 0.003. Curve severity could be compared in 20 sets of monozygous twins and 16 sets of dizygous twins. Among monozygous twins, there was a correlation coefficient of r = 0.399 (P < 0.126). Curve pattern comparison was not statistically significant. CONCLUSIONS: Monozygous twins have a significantly higher rate of concordance than dizygous twins, and the curves in monozygous twins develop and progress together. Based on these data, there is strong evidence for a genetic etiology for adolescent idiopathic scoliosis.

  15. #45
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    Quote Originally Posted by Pooka1 View Post
    Actually, apparently Lonner is not bracing based on the test results (per that article). Now that assumes he would have braced absent the test results, something we don't know.
    I don't see the difference. If the test says you won't progress but you do anyway (sans intervention) the outcome is the same.

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