Autism pre-birth gene test. Here?

22 Jul

Has the day finally come?

CombiMatrix Corporation (Nasdaq:CBMX) announced today that it has launched an updated version of its ATScan(tm) test for pre-disposition screening for autism, through its wholly owned subsidiary CombiMatrix Molecular Diagnostics (CMDX). The ATScan test has been updated to encompass recent discoveries published in the journal, Science, which confirm the role of several new genomic imbalances in the etiology of Autism Spectrum Disorder (ASD)

The product page for this testing is here.

CMDX is proud to offer the first of our ATScan™ suite of BAC (Bacterial Artificial Chromosome) array CGH (Comparative Genomic Hybridization) based tests. ATScan™ is designed to detect known genomic copy-number variations (CNVs) associated with Autism Spectrum Disorder (ASD) and this test is now available to our physicians and consumers.

I can’t find anything out about this test – such as price or reliability. Any comments would be welcomed.

10 Responses to “Autism pre-birth gene test. Here?”

  1. Catherina July 22, 2008 at 12:40 #


    1) That was quick… (10 days since this;321/5886/218 came out)

    2) I pity the parents who would do invasive prenatal testing and consider an abortion on the available data. “Predisposition” to autism is such a vague term. But clearly, that is the “market” that the makers of this test are going for. Parents who already have a child with autism (“With an occurrence as high as 1 in 150 children and a likelihood of recurrence of greater than 15 percent in families with an already affected child, the clinical impact of ASD is likely greater than any other single developmental disorder, including disorders such as Down syndrome”)

    3) The makers of these test must be really happy about all the celebrities who rally “against autism”, because that increases their customer base and, as seen by their sales spiel, they are preying on the same fears (1 in 150, recurrence risk).

  2. kristina July 22, 2008 at 14:06 #

    It says “pre-disposition screening for autism”—I am wondering if it is for parents?

  3. Catherina July 22, 2008 at 14:12 #

    The way I read the scientists’ endorsements it looks like they are using it as a post-natal diagnostic tool for children on the autistic spectrum (Jimmy has been tested ASD but what is the genetic basis for this). However, the company blurb speaks for a use as a prenatal diagnostic tool (hence the mention of the recurrence risk). At least that is my interpretation.

  4. Socrates July 22, 2008 at 15:56 #

    I think someone in the US should ring them posing as a prospective parent, to elicit further information.

  5. alyric July 22, 2008 at 17:50 #

    I wonder about terms such as ‘cliniong thousands and a crude one at that. Do they have laws against false advetisingcally validated’. Perhaps a check with the FDA might point to the premature claims being made here. I doubt that this has any legitimacy, regulatory, clinical or anything, just another get rich quick scheme and probably just one am or is it always caveat emptor?

  6. alyric July 22, 2008 at 17:51 #

    I wonder about terms such as ‘clinically validated’. Perhaps a check with the FDA might point to the premature claims being made here. I doubt that this has any legitimacy, regulatory, clinical or anything, just another get rich quick scheme and probably just one among thousands and a crude one at that. Do they have laws against false advetising or is it always caveat emptor?

  7. Patrick July 22, 2008 at 18:25 #

    I agree that there is not enough data on their site to even consider shopping there.

    Example, detection rates.

    Instead of listing the accuracy of their algorithm in respect of testing a known group (what one would Need to know), they footnote * Rates of detection are based on those described in the selected references listed by PubMed ID number.

    For the autistic features on their Chromosomal Abnormalities page

    a figure of 1-3% is shown. Not anywhere approaching a confidence level a customer could expect to buy into for a useful test in my opinion, but instead just parroting the pubmed detection incidence rate.

  8. Kassiane July 22, 2008 at 19:14 #

    I hope someone does ring them. Oh did this raise my anxiety 10,000 fold…

  9. RAJ July 23, 2008 at 21:07 #

    There is no ‘test’ for autism since there is no autism specific gene that has ever been identified despite media hype where nearly every week the media breathlessly announces ‘New autism gene discovered!’.

    Professor Sir Michael Rutter has an excellent overview on why understanding the glacial pace of progress in both the genetic and environmental components of autism has been so difficult:

    The group who has patented the ‘genetic’ test for autism fail to recognize that one of the genes they identified in exactly six families out of eighty eight families who were born parents who were first cousins had already been identified in mentally retarded children without enough autustic type features to qualify for an ASD diagnosis.

  10. brian July 24, 2008 at 00:37 #

    Because different mutations in or affecting the expression of a particular gene can have different effects, it’s not at all surprising that a gene previously linked to mental retardation can also be linked to ASD; in addition, of course, many autistic individuals are also mentally retarded. Perhaps in a world where many elective abortions are performed simply because a fetus has two X chromosomes, a prenatal test that cannot distinguish between a fetus that might develop ASD from one that might develop as mentally retarded will still be commercially viable. . . .

    On a more positive note, the Science article Catherina cited includes this statement: “The accumulating number of distinct, individually rare genetic causes in autism suggests that the genetic architecture of autism resembles that of mental retardation and epilepsy, with many syndromes, each individually rare, as well as other cases potentially reflecting complex interactions between inherited changes.” With that in mind, you can see that the ready availability of this test and similar diagnostic procedures could help to untangle the web of syndromes that are now included in ASD, and that would be a good thing.

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