Friday, June 11, 2010

Questions Unasked

One of the advantages of being an outsider to autism science is that I get to ask simple questions. Take for instance autism's latest hullabaloo, the paper recently published in the journal Nature, Functional impact of global rare copy number variation in autism spectrum disorders (Pinto et al., 2010). There are questions about this study that the media will not ask, nor apparently will any of the study's nearly two hundred authors. I, on the other hand, have no such reservation:

  • If particular types of rare copy number variants (CNVs) are only slightly more likely in autistic individuals than in non-autistic individuals (which is what the study indicates), and if the ratio of autistic individuals to non-autistic individuals is approximately 1:99, then aren't the vast majority of instances of these particular CNVs going to be found within the non-autistic population? And if so, how distinctive for autism can these CNVs possibly be?

  • How is it that only the CNVs which are more likely in autistic individuals can produce significant consequence, whereas the hundreds of other CNVs (from both populations) are apparently benign? Is this science—or wishful thinking?

  • How is it that the broad variety of CNVs more likely in autistic individuals (which are apparently the only ones that can produce significant consequence)—how is it that this diverse hodge-podge of CNVs can all lead to the same diagnosable condition? Is this science—or an amazing coincidence?

  • If the purpose of this study was to uncover a genetic signature underlying autism, shouldn't the major conclusion of this study be that there isn't one?

There are reasons that simple questions go unasked, but those reasons seldom have anything to do with the actual results. I have heard the spin being placed on this study in the media, and I have also listened to what the study's authors have had to say, but I can tell you without hesitation that the study's raw data imparts an entirely different story. Let me put it this way: if you are one of the nearly two hundred scientists who has managed to finagle your name onto the authorship list, then the publication of this study is a positive result; otherwise, it is a whole bunch of nothing.

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