Dr. Insel begins each IACC meeting with a synopsis of the latest autism research. Insel is always right on top of the latest gene, brain, genome and brain imaging research. You know, the greatest hits of team old school autism research. Unless environmental research = old parents or depressed Moms these guys aren’t interested. Scores of innovative biomedical and environmental research studies have been published over the past year but Dr. Insel discusses almost none of it.
Until recently old school autism researchers managed to nurture an urban myth that autism is 90% genetically determined. A brand new and well-designed research study found that genetics actually play a much smaller role shattering the old genetic/psychiatric paradigm.
This Hallmeyer/Stanford/Autism Speaks study found that over 50% of autism can be attributed to environmental factors. This is game changing research. This study was conducted by geneticists who did not expect nor do they benefit from this outcome. The Stanford study was not bought and paid for CDC/ Thorsen/Danish epi junk research, but actual independent research with no pre-determined conclusions. Actual good work!
Remember back a few years ago when the government dismissed concerns regarding hormone replacement meds triggering breast cancer? The pharmaceutical companies and the FDA believed this was a crazy hypothesis; breast cancer is genetic. Well…solidly independent research proved otherwise, hugely otherwise. Most women immediately stopped taking hormone replacement therapy meds and newly menopausal women never started. Just one year later there was a 50% drop in breast cancer. 50%! So much for the environment playing a small role in breast cancer.
OK back to IACC. This Stanford study is the biggest news in autism research in years but what does Dr. Insel begin his discussion with? You got it! Brain and genes sequencing and the genome. Finally the Stanford study was mentioned- for like 1 minute. And guess who was IACC’s first guest lecturer of the day? Yes, of course, a geneticist, Yale’s Dr. Matthew State.
Nevertheless I found State’s presentation intriguing. He thanked the autism community for their patience with genetic research and acknowledged that progress has not come as quickly as he would have liked but promised that is changing. State urged everyone to be optimistic and explained his excitement regarding recent genetic findings. State repeatedly noted the great progress in genetic technology, described as light years ahead of where it was just 5 years ago.
State was polite and personable but definitely played defense. Major defense. The thrust of his discussion was that genetic research into autism was and is the most important, most promising area of study. State cited genetic research into Alzheimer’s as an example of great progress. OK, at this point I’m scared. Alzheimer’s disease was discovered ONE HUNDRED years ago. Yes, 1-0-0 years ago. Today despite, oh I don’t know, maybe a billion dollars in genetic research we still know nothing about how to prevent Alzheimer’s or how to treat it. If that’s successful genetic research- no thanks. Recently there has been a move to focus more on possible environmental triggers behind Alzheimer’s. The public is running out of patience. In short order guess what environmental researchers have discovered? There is a direct link between aluminum exposure and Alzheimer’s. So familiar!
Then the weird, what I like to call “shoehorn science,” arguments began. All of a sudden everything is “complementary.” State hypothesized that most genetic research is really both genetic and environmental anyway. Right. OK, pal try selling that all day long, no one’s going to buy it.
State insisted that genetic research is so important because it helps clarify the role of the environment. Hey, I have a neat idea; in order to study the environment let’s study the environment! Naturally I kid, we absolutely do need to study genetic vulnerabilities/genetic predispositions. But our families do not have the patience for a revisionist fantasyland. The sad fact is that the vast, vast majority of autism research funds have been spent on hardcore genetic research and we have made little progress. We have to deal in reality.
Then State launched into how genetic research will help establish the brave new world of “personalized medicine.” I love this one. We cannot even teach pediatric GIs how to properly scope autistic kids. We cannot get major organizations or the NIH to fund research into the basic biomedical interventions families use everyday. Treatment research into autoimmune dysfunction, IVIG and glutathione drips, vaccine induced regression/encephalitis, the use of anti-inflammatories for gut disease -- virtually non-existent. Hundreds of thousands of ASD Moms and Dads aren’t waiting around for the dawn of “personalized medicine.” We already do this everyday. Personalized medicine? 99% of parents would settle for a pediatrician who actually knew something about ASD and biomedical treatment interventions.
My son has never been asked to be in any kind of biomedical clinical trial that could address his medical issues -- because there are none!
Finally State politely dropped the hammer on the Stanford study. He showed the committee a number of ancient studies asserting that ASD is 73-93% genetic in nature. Retrenchment time! You knew it was coming. State assiduously downplayed the significance of the Stanford study, citing a long list of perceived flaws, and I emphasize, “perceived.” In conclusion State emphatically stated that the Stanford study is “is NOT a game changer.” Sorry, wishing it doesn’t make it so.
Denial: refusal to face unpleasant facts.
Defensiveness: serving to protect, quick to justify.
OK, so then I got curious and watched some of Dr. State’s lectures on You Tube. So depressing. What is it with these guys? Do they only converse with other academics? Are they hermetically sealed off from all environmental science?
In a lengthy video State is addressing a group of students. If he says it once he says it 10x, autism is 90% heritable, the most heritable of all “psychiatric disorders.” Then on to the lame hypothesis that the Dads of ASD kids might have a “degree of social awkwardness” and maybe “Mom had a speech delay.” Seriously, how many ASD Moms do you know with speech delays? State basically hypothesizes that the socially awkward guy and the speech delayed woman produce, essentially, a disabled form of themselves = autism. Romantic right? I think Lifetime is making an original movie about such a couple.
Then State segues into the fact there are different forms of autism, which is surprising because he is only researching and describing 1 kind, the ultra genetic version. Imagine it’s 1985 and lecturing on populations vulnerable to HIV transmission but speaking only about hemophiliacs. Sure hemophiliacs are high-risk group but what about the other 90% of those w/ HIV, how did they get infected? They have a pretty different trajectory, right?
In State’s autism lecture there is zero mention of regression, zero mention of environmental science (so much for all that “complementary” talk), zero mention of the biological/medical problem associated with autism, zero mention of any kind of ASD trajectory but the most rigidly genetic.
You know what else there is zero mention of? Who is funding much of this research and why, what life is like for most people with autism, how many kids are living with serious and untreated medical problems or how severely disabling and heartbreaking autism can be. State conveys no sense of urgency at all. He seems like a nice guy but he just doesn’t get it.
Take out the discussion about the exciting (to him) super, fast, new high tech genetic sequencing machines and this autism lecture could have taken place 25 years ago.
Thanks again to the authors of the Stanford study. It is indeed game changing, solid innovative research that should immediately inform the future direction of this field.
Katie Wright is Contributing Editor for Age of Autism.