In diagnosing fragile X, the gold standard, until otherwise noted from Fragile X experts, will be the FMR1 DNA test (Southern Blot with PCR Analysis, and that may one day change based on the results of the test they are using for the Newborn Screening study).

As noted in the American College of Medical Genetics, Diagnostics and Carrier testing, Practice Guidelines, revised in 2005, http://www.acmg.net/StaticContent/StaticPages/FragileX.pdf “In a small number of individuals with FXS, mechanisms other than trinucleotide expansion, such as deletion or point mutation, are responsible for the syndrome. In these cases, linkage studies, cytogenetic, sequencing and/or assays designed to identify rare mutations and deletions may provide important information for relatives.” This is the only time a cytogenetic (chromosome analysis) test can be trusted to be accurate in a fragile X diagnosis.

Someone can correct me if I’m wrong, but I believe the Chromosomal Microarray Analysis (CMA) is just a new improved cytogenetic test (chromosome analysis) and as noted in the ACMG Practice Guidelines listed above the cytogenetic test was created prior to the discovery of the fragile X gene, and has proven unreliable in diagnosing fragile X, but it can be used to identify Fragile X when it’s due to a deletion of the gene (which is rare). The FMR1 DNA test is 99% accurate in diagnosis, the cytogenetic test I believe is less than 50% accurate, to me that’s a huge difference and I’ve meet far too many families who were given a false negative diagnosis because the FMR1 DNA test wasn’t done, the doctor ran only a cytogenetic (chromosome analysis) test.

This new test may be a better tool to identify those with Angelman or Rett Syndrome, or those with suspect mutations in newly discovered suspect genes/chromosomes.

In the fragile X world, at the hands of inexperienced professionals when it comes to fragile X diagnoses could there be far too many false negatives, I’d guess yes, all depends – I wonder in this study did they compare the results to actual FMR1 DNA tests, were they the same? That’s what I’d like to know. And, remember the quote above “This test is not intended to replace current screening tests, but …” If you have a fragile X test done, and they haven’t given you “CGG” repeat numbers for the alleles I’d be very concerned that they didn’t do a FMR1 DNA test, something to think about.

And, if you’ve never tested for fragile X, never ruled it in or out, consider having the FMR DNA test done.

And, if by chance someone screwed up, ran the wrong test and you got the wrong news, I’d consider suing, I’m just a mom yet I understand the practice guidelines (which originated in 1994) there is no excuse why any medical professional can’t get it right. A correct diagnosis may change your treatment plan, the therapies you’ll seek out.

“How bad do the numbers have to get before autism is addressed as a national health crisis that could only be happening because of environmental factors? How long will we pretend we can find the answer to autism with genetic testing?”

Precisely. The average person has traces of over 700 chemicals in their bloodstream and approximately 100,000 synthetic chemicals are in existence. No combination (i.e. synergism) of these chemicals has ever been tested, nor would it even be practical to do so. The most frightening example of this type of pollution is the breast milk of Inuit mothers. If it were ever bottled and sold as a food product, not only would it not meet FDA standards, but it would be classified as toxic waste! For more details, please read the Hundred-Year Lie by Randall Fitzgerald to educate yourself, and to enable you to protect your loved ones from this environmental onslaught.

http://www.hundredyearlie.com/

For the other 85% of cases, it looks like parents are left with the usual comment, “Autism has no known cause,” that we’ve heard for endless years or as Tiffany O’Callaghan puts it, “It still won’t provide any answers for the vast majority of people give the test. Still, in the ongoing battle toward better understanding and diagnosis of autism, it’s a step forward.”

It’s hard to imagine how this is a step forward. Autism is now a raging epidemic in the U.S., affecting one percent of children/one in every 70 boys and experts continue to have no answers. A once-rare disorder is now so common that everyone knows someone with an autistic child and no one can tell us why. How bad do the numbers have to get before autism is addressed as a national health crisis that could only be happening because of environmental factors? How long will we pretend we can find the answer to autism with genetic testing?

Anne Dachel
Media editor: Age of Autism http://www.ageofautism.com/