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Latest Autism Gene Findings . . . Not Much
By Mark Blaxill
There's a familiar rhythm to the most prominent autism gene hunt
publications. Their authors hype their newly minted study aggressively
in the media. The prestigious journals that publish them lend their
imprimatur to press releases that say, "this study is a big deal." The
findings sound impressive in the press release (and the authors get
plenty of time on camera and in leading newspapers to tell us how truly
impressive they are). In the meantime--in papers that are so densely
written that making sense of what they really say requires far more
reflection than the media hype cycle permits--skillfully concealed
evidence reveals the truly important new in the findings: the authors
whisper quietly (if at all) that the new analysis negates the most
important findings of some of the most prominent previous gene hunts,
while crucial detail on their new findings is often relegated to
"supplementary material" that's not available on the publication date.
All
of these patterns will almost certainly be on display today as the
latest missive from the autism-genetics establishment bursts forth in
the form of not just one, but two major papers in the journal Nature.
But I warn you, don't be fooled by the hype. These two studies report a
few moderately interesting findings, which isn't a bad thing. Broadly
speaking, trustworthy and actionable biological findings about autism
are something all autism parents should welcome, whether they're about
genes or the environment or the interaction between the two. And
indeed, most autism parents I know generally agree that there OUGHT to
be some kind of genetic susceptibility that we can discover in autism.
But what's truly remarkable in these two papers is how so much will be made about so very little.
That
said, the publication of these two papers, one on the risk of rare
mutations (copy number variants) in "autism genes", the other on common
inherited genes (reported here in the form of "single nucleotide
polymorphisms" or SNPs) that may increase autism risk--creates an
opportunity to review the current state of the great autism gene hunt,
something I've wanted to do for a while. I'll break the review into
four pieces
1. What you should know about the lead authors and their funding
2. What the paper on "copy number variants" really says
3. Why the paper on common genetic variations will get the most hype
4. How to distinguish faith from reality in reading the results
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