Is this true? DNA spit test springs girl, 12, from scoliosis brace

[newlight]

http://www.msnbc.msn.com/id/40441619...ing/?gt1=43001

Follow this link to an article I just found. A 12 year old girl was allowed to stop wearing her back brace after a genetic test. What evidence is there that these tests even work? I wore a back brace for 6 years, 23 hours a day... What if she gets worse? Anyone have thoughts on this?

[momw/scoli]

I wonder if my almost 13 year old daughter could take this test? She is pre menarche, has small curves, and has been wearing a providence brace for 18 months. She is about to get another brace and I guess she can plan on wearing this brace for at least 18 more months. Her curves are small 11 and 15, but her sister had surgery so we are being very careful.
Becky

[skevimc]

Finally some data on the Scoliscore. And it looks pretty impressive. I haven't read the entire study (from Spine) so I'm not entirely sure about everything they are measuring or following. But the initial read seems to strongly support the low end of the screening. That is, if you come up with a low Scoliscore, your risk for progression to surgery is essentially zero with ~98% confidence. Again, I haven't read it very thoroughly, but it looks pretty good at first glance.

The drawbacks:
If there is a very low score or a very high score, the test is pretty accurate. But if you fall in the middle, it remains questionable.

It is quite expensive. $2500 as the msnbc article says and some insurance pays for it and some don't.

Validated on white adolescents only with a mild curve diagnosed no younger than 9 years old. A test for black children seems pretty close as well as Hispanics. Other smaller groups like Native Americans or Pacific Islanders might not be available for another several years.

Only validate for AIS. Not JIS or adults onset. I'm curious if doctors will even allow their patients to do the test if they don't meet the specific guidelines.


To me it seems like a good tool to have in order to suggest how aggressive you should be with treatment, but I'm thinking it will be cost prohibitive for many. If you can afford it, it could provide some piece of mind (low score). OTOH it might add more worry because now surgery will seem inevitable (high score). And still on the other-other hand, it might just be an expensive test that gives inconclusive results (middle score).

[Pooka1]

I see they did finally publish though not ahead of selling the test.

This appears to be an epic win... 75% of the girls with small curves will not progress to surgery and they can identify them with a 99% - 100% accuracy.

Huge good news that comports with what is already known about the percentages of kids with small curves who will never reach surgery territory.

This, by the way, is dispositive evidence that certain genes are REQUIRED to produce a surgical curve irrespective of ALL ELSE and that absence of those genes results in no surgical scoliosis associated with AIS in white adolescent girls. That's a done deal.

This is also very strong evidence that genes alone will predict reaching surgery territory. They don't mention the accuracy of the high end scores but I think it's high though not as high as the low end scores given the wording indicating they are most accurate at ruling out surgical cases (i.e., low end scores).

This is strong evidence for a straight genetic control on surgical AIS in white adolescent girls.

The cases with middling scores might have some room to suggest some other factor besides genes that determine or help determine which way it breaks but the end member cases do not. And that ~75% (low end) plus ~1% (high end) or 76% of fall cases of AIS in white adolescent girls appear to be under strict and sole genetic control (or genetic control plus a ubiquitous environmental agent).

Remarkable work.

[skevimc]

I see they did finally publish though not ahead of selling the test.

This appears to be an epic win... 75% of the girls with small curves will not progress to surgery and they can identify them with a 99% - 100% accuracy.

Huge good news that comports with what is already known about the percentages of kids with small curves who will never reach surgery territory.

This, by the way, is dispositive evidence that certain genes are REQUIRED to produce a surgical curve irrespective of ALL ELSE and that absence of those genes results in no surgical scoliosis associated with AIS in white adolescent girls. That's a done deal.

This is also very strong evidence that genes alone will predict reaching surgery territory. They don't mention the accuracy of the high end scores but I think it's high though not as high as the low end scores given the wording indicating they are most accurate at ruling out surgical cases (i.e., low end scores).

This is strong evidence for a straight genetic control on surgical AIS in white adolescent girls.

The cases with middling scores might have some room to suggest some other factor besides genes that determine or help determine which way it breaks but the end member cases do not. And that ~75% (low end) plus ~1% (high end) or 76% of fall cases of AIS in white adolescent girls appear to be under strict and sole genetic control (or genetic control plus a ubiquitous environmental agent).

Remarkable work.

I think the 'X' factors for the middle and upper ranges are going to be the environmental influences. I think in the discussion they mention genes laying dormant and/or not being exposed to a certain environmental factor. When I have more time I'd like to read through it.

Lots of interesting work ahead on these genes and what they do.


<Science writing pet peeve soap box>
If you're gong to write about a scientific article, please find the abstract in pubmed and put a link either in the article or at the end of the article. It's not that hard and shows thoroughness and attention to detail. Not to mention the expectation that some people are going to want to check your facts. Maybe I missed the link though.
<end rant>

[Pooka1]

<Science writing pet peeve soap box>
If you're gong to write about a scientific article, please find the abstract in pubmed and put a link either in the article or at the end of the article. It's not that hard and shows thoroughness and attention to detail. Not to mention the expectation that some people are going to want to check your facts. Maybe I missed the link though.
<end rant>

1,000 apologies. I usually do post all links but dropped the ball that time.

http://journals.lww.com/spinejournal...ing_to.18.aspx

[Pooka1]

I think the 'X' factors for the middle and upper ranges are going to be the environmental influences. I think in the discussion they mention genes laying dormant and/or not being exposed to a certain environmental factor. When I have more time I'd like to read through it.

Lots of interesting work ahead on these genes and what they do.

That might be true for the middle scores but if some ridiculously high percentage of those with very high scores become surgical (let's say >95%) then there is one of two possibilities:

1. it is under strict genetic control
2. it is under genetic control in the presence of a ubiquitous environmental trigger.

If there is a third possibility, I don't know what it would be.

What has been established is that you NEED certain genes to become surgical with AIS in white adolescent females and that you will not become surgical if you don't have those genes.

[skevimc]

1,000 apologies. I usually do post all links but dropped the ball that time.

http://journals.lww.com/spinejournal...ing_to.18.aspx

No no... That wasn't directed at you. I should have specified I was discussing the msnbc article. They mention the Spine article and then don't link to it.

[LindaRacine]

I'm curious if doctors will even allow their patients to do the test if they don't meet the specific guidelines.

The manufacturer will not accept tests from people who fall outside of the guidelines. (At least they won't accept them if insurance is involved. They may accept them if someone is self paying, though one would have to be pretty stupid to do that.)

--Linda

[Ballet Mom]

Not an epic win.

From what I can tell by reading the summary, the researchers have developed a test that identify 75% of patients as low-risk, <1% risk of progressing to a surgical curve. I don't believe it is stating that 75% of patients won't progress.

If I am a kid diagnosed at 20 or 25 degrees, do I want to sit there for the next few years and watch myself deform from almost invisible scoliosis, to a large deformity at 40 degrees, or whatever subsurgical cutoff they used....44 degrees? I think not. Not only does the physical deformity greatly increase, but the odds of progessing while an adult will also greatly increase.

So basically, you're back to the wait and watch scenario with a $2,500 test to ease your mind. But then when you start increasing most orthopedists would put you in a brace. Who wants to watch their kid deform? The Irish hospital research comes to mind. That's a non-starter in my mind.

It will be interesting to see the results of the actual use of this test on actual scoliosis patients in real-time.

[Pooka1]

From what I can tell by reading the summary, the researchers have developed a test that identify 75% of patients as low-risk, <1% risk of progressing to a surgical curve.

That's a valid point. I think the cutoff is 40*, at least in the earlier descriptions of the test. I don't know what the final published cut off is.

The epicness is that the percentage who don't reach surgery as adolescents roughly matches what was already know. So that is a good piece of evidence that the approach might be measuring a real thing. When you have independent lines of evidence all agreeing and mutually buttressing, the result becomes more and more inescapable like for the fact of evolution which has more independent lines of mutually buttressing evidence than you can shake a stick at.

And the point is valid from the sense that many some large percentage of people with curves just somewhat below 40* develop early/worse damage from having the curve that require fusion anyway. Even if that is the case, the claim that fusion would not be required for progression still would stand. So if might be true but not matter. But we do have to see the out years on everything, not just this. That is one of the many criticisms of the bracing literature.

[Ballet Mom]

What's worse, is that the supposed cost-effectiveness of this test is you'll save the x-ray costs and exposure and monitoring costs. So basically, the kids wouldn't even be being monitored to see if they progressed during which time many may progress to 40 degrees under their scenario. Yuck.

Fortunately, most orthopedic specialists are very, very smart and actually care about stopping kids from progressing and deforming and they'll either quickly stop using the test, or keep monitoring the kids for progression for some time after the test to ensure there is no progression.

[Pooka1]

I doubt the monitoring will be discontinued even with a very low score. I think it will go on at a reduced frequency for those kids. And that is 75% of those kids so that's a lot less radiographs. That is part of why this is epic.

In the test group, the prediction accuracy was 100% for a certain large subgroup. There are very few things in science with that type of accuracy though I think straight genetic controls on things are by definition 100% accurate if you did it right. That's another point buttressing straight genetic control on not reaching surgical range... if you don't have the markers, 100% will NOT be >40* (or whatever) at skeletal maturity. Still, it needs further corroboration.

[Ballet Mom]

re: reduced frequency

That would be the problem...lots of time to progress in one year's time.

Oh, and the 100% applied to kids with scores less than 41. And then they changed that parameter to 50, so 100% wouldn't apply anymore.

[Pooka1]

Oh, and the 100% applied to kids with scores less than 41. And then they changed that parameter to 50, so 100% wouldn't apply anymore.

I think they raised it to 50 because it was still 100%, yes?