Not on the genetic test band wagon.
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
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
Comment