The Autistic Self Advocacy Network (ASAN) and others have protested the disproportionate amount of money that is spent on “basic” research (i.e. trying to understand the underlying neurobiology of autism) versus how much is spent on “pragmatic” research (learning how to make effective services available to improve the quality of life for autistic people). In 2010, according to the federal government, $408 million was spent in this country on autism research.
As just one example of the disproportionate spending, over $50 million was spent on identifying “Genetic Risk Factors,” whereas only $6 million was spent on researching “Lifespan Issues” (i.e. helping autistic adults).
Such lop-sided funding might be justified if genetic research held out great promise for helping autistic people, but there is no evidence to support that idea. Quite the opposite, in fact.
In a recent (February 15, 2013) post in Mad in America, Jay Joseph has written a synopsis of his ongoing critique of a scientific dead-end. Namely, the Quixotic search for the gene(s) that “cause(s)” any number of psychiatric conditions.
His lede is straightforward:
Two generations of molecular genetic researchers have attempted, yet failed, to discover the genes that they believe underlie the major psychiatric disorders.
Although autism is becoming more widely understood as a neural difference, not a “psychiatric disorder,” it is one of the profiles that is subject to this intense witch hunt. In his article, Joseph mentions autism in passing, as an example of one of the many areas where genetic research has been a failure.
Science writer John Horgan wrote about these non-replicated claims in 2004, and the point is even more relevant today with an additional nine years of gene finding failures behind us:
“Over the past 15 years or so, researchers have announced the discovery of ‘genes for’ attention-deficit disorder, obsessive-compulsive disorder, manic depression, schizophrenia, autism, dyslexia, alcoholism, heroin addiction, high IQ, male homosexuality, sadness, extroversion, introversion, novelty seeking, impulsivity, violent aggression, anxiety, anorexia, seasonal affective disorder, and pathological gambling. So far, not one of those claims has been confirmed.”
The state of the art, such as it is, in genetic research relative to autism seems to me to have found dozens, if not hundreds, of genes that are “associated” with autism. A recent article in The Lancet reports on results of an analysis done by the “Cross-Disorder Group of the Psychiatric Genomics Consortium.” to study genetic similarities among “autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia.”
Interpretation: Our findings show that specific [genetic markers] are associated with a range of psychiatric disorders of childhood onset or adult onset. In particular, variation in calcium-channel activity genes seems to have pleiotropic effects on psychopathology. These results provide evidence relevant to the goal of moving beyond descriptive syndromes in psychiatry, and towards a nosology informed by disease cause.
Without delving into the meaning of the technical terms here (subject for a future post), the take-away is that, in the view of this group of scientists, autism (as well as each of the other “disorders”) is a “disease” that has a genetic “cause.”
This, in my view, is not science, but advocacy. Science takes a bunch of observations (data) and formulates an hypothesis to explain them. Advocacy takes a conclusion and seeks to find data to justify it.
But the problem is larger than that. Science understands (if one can even be so generous as to use that word) a very tiny fraction of the human genome. Most research to date has focused on the 1% or so of DNA that codes for proteins (i.e. has the genetic instructions for making the proteins that constitute the human body). The other 99% remains pretty much a complete mystery, although progress is starting to be made in analyzing that. The ENCODE project (ENCyclopedia Of DNA Elements) is still very much in its infancy.
“Originally genetics was focused on the one percent,” said bioinformaticist Mark Gerstein of Yale University, referring to geneticists’ early concentration on genes that code for proteins, which represent just a a tiny fraction of the genome’s myriad parts. “We’re shining a light on the 99 percent.”
Jigsaw puzzle images have become associated with autism, for better or worse. I don’t know if autism is a puzzle so much as a mystery. When I think about the 99% of the human genome that we barely understand (other than that it has some functions that are essential to making us who we are), I get a mental image of reaching into a jigsaw puzzle box that has 1,000 pieces, pulling out, at random, 10 pieces, placing them on a table, and trying to figure out what the 1,000-piece picture looks like.
And, ultimately, even if we can figure all of this out, what purpose does this inquiry serve? One could also perhaps figure out the “cause” of left-handedness. But of what value is that? Shouldn’t we be more focused on observing that left-handed people have difficulty using some of the tools that were designed for a predominantly right-handed world, and provide left-handed scissors and can openers and such?
Or, maybe there is a “gene therapy” that could “cure” left-handedness so that we don’t have to go to all that trouble? Left-handedness, like autism, is a natural part of the human condition, and we should embrace the diversity that they represent.
I’m not left-handed, but I am autistic, and I’m proud of that and thankful for it. For most of my life, I didn’t know what that meant, but now that I do, my life is much better. I dream of a time when understanding and acceptance will make life easier for all autistic people. Genetic research may play some small part in that, but we have more important things to do right now.