The Axial Biotech Test is Here

[PNUTTRO]

I really hate this test. 53 markers! are you out of your living mind?!

The first paper from Axial on the subject is from 2006, which ruled out a founder effect in related families. That is, there is not a single gene responsible. This isn't surprising given the variability of penetrence in families. It is neither dominant nor recessive trait.

The search for idiopathic scoliosis genes.
Ogilvie JW, Braun J, Argyle V, Nelson L, Meade M, Ward K.
Spine. 2006 Mar 15;31(6):679-81.

There are no subsequent publications of the larger study. Only the presentation at the SRS meeting. The power point presentation that Cara posted previously as well as the abstract and press release have inconsistent statements.

The power point states that all of their scoliosis patients are related. I find that quite peculiar.

The larger study that includes "1,200 unrelated Caucasian" patients. I don't see how this helps anyone of a different ethnicity.

The press release and the power point indicate 53 different markers. The abstract says 30. There is no public description of those markers because they are proprietary. But if their patent is in place, surely they could let us know some of them. Maybe they are related to previously identified genes. It would at least give Axial some validation.

Anyway. I don't know why I felt like I had to put in my two cents, but there it is. I guess I am just a pessimist about companies that will have a press release before publishing their results. Abstracts don't count--usually conference presentations are about incomplete or cutting edge data. Axial presented zero details. The abstract contains 2 figures that are proof of principle diagrams, not data.

p

[PNUTTRO]

http://www.axialbiotech.com/files/fda_approval.pdf

[concerned dad]

Above on Dec 30th I said
"They really dont have too much in their "publications" portion. It looks like a few poster sessions and presentations. "

I was suprised to see PNUTTRO discuss a paper in SPINE. I could swear that wasnt in their publications section 6 weeks ago. It certainly is there now. Maybe my mind is failing, I dont know. I went to look on the internet archive (Wayback machine) to see if their website was updated and when. They (Wayback) lags about 6 months so I'll have to wait and see if I'm loosing my mind.

[PNUTTRO]

I was suprised to see PNUTTRO discuss a paper in SPINE. I could swear that wasnt in their publications section 6 weeks ago. It certainly is there now. Maybe my mind is failing, I dont know. I went to look on the internet archive (Wayback machine) to see if their website was updated and when. They (Wayback) lags about 6 months so I'll have to wait and see if I'm loosing my mind.

I don't know about their website, but the publication in SPINE doesn't discuss data for this test anyway. It was a genetic study to see if they could ascertain a single mutation in their study population. They found none. Wishful thinking I suppose.

I wouldn't worry too much about losing your mind. You likely have a lot on your mind anyway.

p

[PNUTTRO]

Does anyone know if Axial provides genetic counseling with their DNA test, or do they give you the risk score and say see ya' later?


p

[debbei]

I asked my 9 year old's scoliosis doctor about this test a few weeks ago, and I was disappointed when he described the whole thing as a money-making venture that wasn't worth anything.

[concerned dad]

IMO, there is nothing wrong with a venture out to make money. In a weird way we are fortunate there are so many potential patients. An obscure illness would not necessarily draw the attention of the people with the money, skills and knowledge to investigate it.
But because of the money involved, discernment and oversight is necessary.

I wonder why your doctor thinks the test has no merit. It is my understanding that it is still in an alpha testing stage.

[LindaRacine]

http://www.orlandosentinel.com/news/...,6348003.story

Saliva test can predict scoliosis risk

By Robyn Shelton | Sentinel Staff Writer
April 29, 2009


Carly Bosse, 13, with her mom Maurie Bosse, holds her brace that she wears at night. She is benefiting from a new DNA test to determine the severity of scioliosis, or curvature of the spine. Carly was diagnosed with scioliosis at 11. (George Skene, Orlando Sentinel / March 18, 2009)

Doctors have learned more about the curve in Carly Bosse's spine from her genes than her X-rays.

A DNA screening that is being tested in Orlando shows the teen's scoliosis – an abnormal curving of the spine – probably will not need surgery.

The test, called ScoliScore, identifies patients at risk of severe curves, said Dr. Raymond Knapp, a pediatric orthopedic surgeon at Arnold Palmer Hospital for Children. It also indicates when youngsters are in little danger.

"We know when we have to treat someone aggressively, and when we can reassure parents that it's not going to get much worse," Knapp said. "This will basically change the way we treat scoliosis."

In Carly's case, the genetic profile puts her in an intermediate risk category, said her mother Maurie Bosse of Oviedo. That's good news because the curve is not bad enough to warrant an operation. But it's also fair warning to the 13-year-old, who wears a brace overnight.

"I know that she must keep wearing that brace every single night without fail," Bosse said. "She cannot go one night without it."

As many as three in 10 people suffer from some form of scoliosis, though many don't have noticeable problems from it. The side-to-side curve often is detected during routine exams, when a child bends at the waist with arms dangling and one shoulder appears higher than the other. Measurements and X-rays can be done to make a formal diagnosis.

Doctors typically follow patients with X-rays every six months to track the curve's progression, said Dr. Richard E. McCarthy, president-elect of the Scoliosis Research Society. Physicians will continue to watch patients closely, but the test helps them do so with more confidence.

"It's not something that replaces anything that we're currently doing, but it enhances what we're doing," said McCarthy from the University of Arkansas for Medical Sciences.

ScoliScore is based on 53 different stretches of DNA that have been linked to scoliosis. To take the test, patients spit into a cup to provide a saliva sample that contains their DNA. The sample is evaluated by ScoliScore's maker, Utah-based Axial Biotech.

The analysis is complicated, measuring genes that provide protection from scoliosis versus those that have been found to exacerbate the problem. Patients get a score from 0 to 200 – 40 and below is considered low risk; 41 to 180 is intermediate; and 181 to 200 is high.

"We're not diagnosing whether or not someone has the disease," said Eric Olson, a spokesman for Axial Biotech. "We're actually diagnosing something much more complex, which is how it will progress."

ScoliScore is being used on a limited basis for now at about 35 locations nationwide, including Arnold Palmer hospital, which has been involved in its initial testing. The screening costs nearly $3,000, but it is being given for free in the short-term, because most insurance companies do not currently pay for it. Olson expects health plans to cover the test as it becomes more widely used.

[leahdragonfly]

I asked my 9 year old's scoliosis doctor about this test a few weeks ago, and I was disappointed when he described the whole thing as a money-making venture that wasn't worth anything.

Hi Debbe,

I'm just wondering, did your daughter's doctor elaborate about his opinion of the ScoliScore? I know some Shriner's Hospitals are using the test, along with some other prominent scoliosis surgeons. My daughter doesn't fit the test criteria since she has JIS, but I would certainly be curious about it if she was eligible.

Take care,

[debbei]

Hi Debbe,

I'm just wondering, did your daughter's doctor elaborate about his opinion of the ScoliScore? I know some Shriner's Hospitals are using the test, along with some other prominent scoliosis surgeons. My daughter doesn't fit the test criteria since she has JIS, but I would certainly be curious about it if she was eligible.

Take care,

No he didn't. AFter I read the article last night his whole attitude just bothers me and I don't know what I want to do about it.

[txmarinemom]

As many as three in 10 people suffer from some form of scoliosis, though many don't have noticeable problems from it.

How did they arrive at a 30% figure, I wonder, vs. the standard 2-3% of the population?

[PNUTTRO]

http://www.orlandosentinel.com/news/...,6348003.story

Saliva test can predict scoliosis risk

By Robyn Shelton | Sentinel Staff Writer
April 29, 2009



"We know when we have to treat someone aggressively, and when we can reassure parents that it's not going to get much worse," Knapp said. "This will basically change the way we treat scoliosis."

In Carly's case, the genetic profile puts her in an intermediate risk category, said her mother Maurie Bosse of Oviedo. That's good news because the curve is not bad enough to warrant an operation. But it's also fair warning to the 13-year-old, who wears a brace overnight.

"I know that she must keep wearing that brace every single night without fail," Bosse said. "She cannot go one night without it."

I love this article. The kid has a genetic test done. She already wears a brace. She has to continue wearing the brace and be monitored. If she does progress anyway--this is a risk assessment, not a fact--she will have surgery.

How does this "change the way we treat scoliosis"?

[Dingo]

It's certainly possible that children with particular genes have a greater risk of curve progression. By comparison buildings constructed under different standards can be more or less earthquake resistant.

But regardless of construction methods buildings don't usually topple unless they are hit by an earthquake or some other destructive force. The Scoliometer isn't designed to tell us what that force is. The Scoliometer tells us the likelihood that a child's spine can withstand the force. Every teenage girl could take the Scoliometer and get a curve progression risk. Obviously the results which range from high risk to low risk would only be important to those few girls with the disease.

PNUTTRO said something that I think deserves a comment.

The first paper from Axial on the subject is from 2006, which ruled out a founder effect in related families. That is, there is not a single gene responsible. This isn't surprising given the variability of penetrence in families. It is neither dominant nor recessive trait.

The idea that a very common, worldwide childhood disease like Scoliosis could be due to founder effect is silly. I don't mean it's wrong because a lot of good ideas turn out to be wrong. I mean that hypothesis is silly. Did the scientists at Axial think that Scoliosis genes spread from one village in Britain to all of Britan to every nation around the globe at around a 2% or 3% frequency? Whoever came up with that hypothess probably shouldn't be working in science.

[leahdragonfly]

Dingo,

You have your terminology mixed up! The Scoliometer is also called the inclinometer and is a non-invasive measure of spinal rotation. It is used in school screening programs among other uses. You can purchase one from the NSF for about $55 I believe.

The new genetic test is called the ScoliScore, and I think that is what you are referring to.

BTW, I am personally not ready to throw out the idea of a genetic basis for scoliosis. My father has mild scoliosis, I was braced for moderate scoliosis and still have a 36 degree lumbar curve, my sister has a very mild curve, and now my young daighter has JIS. The jury is still out for my 4 y/o son, but his spine is definitely not quite straight either.

[Dingo]

Scolimeter - Scoliscore

DOH!

Thanks Leah! I have my terms mixed up.

I wouldn't absolutely discount genetics for every case of Scoliosis.

Your family might share a new, genetic mutation that causes spine disorders. Natural selection tends to be tough on these types of genes so in all likelihood it's new and very rare. These types of genetic disorders usually hit one child in thousands or even tens of thousands.

Maybe you guys share a genetic susceptability to an environmental trigger that leads to Scoliosis. This trigger could be a particular medicine, pollution or even a common virus like RSV.

Reyes syndrome works something like that. If you give the wrong kid Aspirin he is in big trouble.

Microbes tend to be far deadlier and more prolific. Flu virus appears to trigger Autism and Schizophrenia in kids with a particular genetic susceptability.

Endocardial Fibroelastosis was a fatal heart disorder that hit 1 child in about 5,000. Scientists noticed that it hit some families harder than others which suggested some kind of susceptability. They also noticed a correlation with mumps. When mumps vaccinations became widespread this heart condition completely disappeared.

My money is on something like that. Children with Scoliosis probably have a genetic susceptability to something. We just don't know what that is.

Scoliosis only has a 13% identical twin concordance rate. For most children environment is playing a huge part.