Kaiser Permanente has a long history of autism research. They’ve performed a number of epidemiology studies, including many on environmental risk factors and also the recent study on The health status of adults on the autism spectrum. They have recently embarked on a large study, the Kaiser Permanente Autism Family Biobank Study.
You can also find picture books (social stories) for the sample donation process on the Autism Family Biobank website.
From the FAQ for the study, What is the KP Autism Family Biobank?
The KP Autism Family Biobank is a study of Kaiser Permanente Northern California children and young adults with Autism Spectrum Disorder (ASD) and their biological parents. The
study seeks to enroll 5,000 affected children plus their parents (for a total of 15,000 participants) to create a collection of genetic material and information for future research. Dr. Lisa Croen is the principal investigator of the study.
Autism genetics has turned out to be a very complex question. There’s no single “autism gene” but autism clearly has a large genetic component.
What does that mean in practical terms? We need a lot of data to understand the question of autism genetics. And that’s a big piece of what this study will do: bring a lot of data to bear. And not just genetic data. This is a key part of this study and can’t be stressed enough. Kaiser provides healthcare. They have electronic records on their patients. And these patients are the pool from which they will draw their study subjects.
Or to put it simply–they will be able to not only say, “these genes are associated with autism” but “these genes are associated with autism and low verbal skills, while these other genes are associated with autism and regression.” (to give a hypothetical example).
To do this they need a lot of people to participate. They are going to get 5000 autistic kids involved. And they won’t stop there: they will also include parents. That makes 15,000 participants. Not all genes are inherited. With the parents involved, Kaiser can can see if genes associated with autism are inherited or not.
Now many parents will ask (and it’s a valid question), “OK, what will this do for my kid?” It takes time (not a lot, but some) to participate and lots of kids don’t like doctor visits. But consider this: genetics helps people understand biology. With a better understanding of biology, one can make progress towards treatments. There’s a reason why some of the treatments proposed for autism came from research in Fragile-X. People have spent a lot of time studying this genetic condition and that focus has led to proposed treatments.
Or to put the short version of the message out–this isn’t just another genetics study. It’s bigger (15,000 people!) and brings a lot of value with the clinical data that Kaiser has. There’s a chance to have a big impact to better the lives of autistics. If you are a Kaiser member in the study area, please consider participating.
Links and recent news:
Sign up online
First KP Members Join Autism Family Biobank
Kaiser to look for autism’s causes in large-scale study
Study Flyer
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By Matt Carey
Disclosure: I serve on a community advisory board for Kaiser. It is a volunteer position (I.e. I get no pay) and will not benefit from this study any more than anyone else in the autism community. And the decision to conduct this study was made before I became involved with Kaiser.
Left Brain Right Brain 
Matt,
Thanks for highlighting the Kaiser effort, and for stating so eloquently why studies like this are important–it’s not about identifying risk genes for the sake of identifying risk genes; rather, it’s about identifying clues to the underlying biology of ASD, which is a point that often gets lost. The Kaiser effort is supported by the Simons Foundation. I’d encourage anyone who is interested to help us by responding to this survey:
http://sfari.org/funding/clinical-research-associates/simons-foundation-national-autism-cohort/.
The survey is intended to gather information so that we can put together the best possible cohort that will not only advance research but also help families as soon as we can.
Alan Packer
Simons Foundation
Thanks for that–I should have given a shout out to Simons for the support on this study.
For people unaware of Simons–they are the big private funder of autism research. We are very, very lucky they have decided to dedicate support to our communities.
I will admit that the move toward gathering information within the context of a large health care organization is a good step along the lines of what centralized repositories like some northern European countries are able to accomplish. That being said, I’m struggling to see how this will help anyone, even eventually. Someone please prove me wrong.
The autism genetic landscape appears to be littered with hundreds (or thousands) of very low penetrance genetic changes; that is, they seem to drive toward a neurodevelopmental outcome of autism in very subtle ways. I don’t think it helps our understanding of autism biology to throw another couple hundred into the pile; does it help to know that SHANK3 alters plasticity, SHANK4 alters plasticity, and SHANK 9918 alters plasticity, and all are associated with a .1% increase in relative risk? We’d have have a clue *how* plasticity changes wind up manifesting into autism, and getting up to SHANK3929923999329 won’t move us an inch closer to that knowledge.
The instances where there is a highly penetrant change, one that very significantly alters the outcome toward autism, are exceedingly rare to the point where discovering the mutation, *and* the underlying biology, *and* the appropriate treatment outcome leaves you with a ton of effort and a vanishingly small population that you can actually treat. And that assumes that the private sector would even bother trying to generate a molecule that could treat biological driver X when your total pool of people who would need the drug number in the hundreds, or perhaps thousands, (and you’d have to scan the genome of everyone with autism in order to find those patients!)
To this case, I speak from some experience. We had our son (and ourselves) tested for genetic mutations. My son, and wife, had an extremely rare mutation; the genetic bank at Emory University had two other people showing this particular puzzle piece ‘mismatch’ on this gene. A pubmed search for this gene reveals 80 hits, compared to nearly 7,000 for fragile X. Assuming a causative relationship (somewhat reasonable considering animal studies and a relationship with ID), what then? Assuming we went on to understand the biology (a huge leap), would any pharma company start a drug development effort for a population for a microscopic slice of the population?
Genome sequencing has come a long way, but we are still pretty damn dumb about the underlying biology of most of CNS ailments. For an example, take a look at the graveyard of treatment attempts for Alzheimer’s, a literal gold mine for the people who find *anything* that helps; instead we have billions poured into efforts with absolutely nothing to show for it. I get the feeling that when you’ve got the most kick ass hammer (a genomic sequencer 923932 faster than one a decade ago), it tends to make a lot of problems look like genetic nails. I can’t help but think that we might be better trying to get a better handle on what is happening above the genome, but it is so goddamned complicated that we’ve settled on another large scale genomic study by fiat.
That all being said, if I lived in California, I would participate.
my assistant was looking for form name several days ago and learned about a web service with a ton of fillable forms . If others need 2012 CMS 1500 also , here’s a or http://www.sba.gov