Following a National Institutes of Health press conference at Neuroscience 2013, in San Diego, National Institute of Mental Health Director Tom Insel sat down with Autism Speaks to talk about the future of autism research, diagnosis and treatment.
Dr. Insel: Let me start by saying what a huge fan I am of Autism Speaks. Your organization is such an important part of autism research, I don’t know how we managed without you.
Autism Speaks:Thanks so much, Dr. Insel. Earlier this year, you called for a transformation in how we diagnose and treat disorders such as autism. Would you please elaborate?
Dr. Insel: Clearly autism is many disorders. We’re just at the beginning of identifying the many subtypes. We have to step back and appreciate that only in the past two to three decades have we been exploring the disorder’s complex basis. And only in the last decade have we been using tools that allow us to begin to study the underlying brain circuits and how they work.
Our early autism research focused on how to help individuals through educational and behavioral interventions. This has great value. We’ve seen how behavioral interventions can improve outcomes. We know that 50 percent of children will get much better with behavioral treatment.
The success of behavioral interventions tells us that autism is very treatable. But we haven’t yet mapped autism’s fundamental molecular or circuit architecture. And this is essential for finding targets for better treatments. This has to begin with identifying and understanding autism’s many subtypes through genomics, brain imaging and cognitive testing at a very high level.
Only when we’re able to identify different groups can we develop the best treatments for each of them. We are just at the beginning of this process. The need for research is huge.
Autism Speaks:So how do we get from symptom-based system of diagnosing and treating autism to biology-based diagnosis and personalized treatments?
Dr. Insel: This is not something we can do in the short run. When I made that statement – that we need to develop this new way of thinking about diagnosis – I was not criticizing how autism is diagnosed and treated today. I was making a call to action for the research community.
In most other areas of medicine, we no longer diagnose disorders based only on symptoms. We also perform biological testing. We’ve begun to practice precision medicine. And to do that, we need biomarkers.
So to answer your question, we get there with research that can identify the biomarkers that distinguish different types of autism. But when I say biomarkers, I mean more than laboratory tests on biological tissues like blood and DNA. We can also use cognitive markers, the results of cognitive tests.
Last week, a remarkable paper in Nature suggested that early patterns of infant eye gaze could be such a marker. We’ve had similar findings on body movements and differences in where infants and toddlers focus their attention.
Autism Speaks:What advantages does biology-based diagnosis provide over today’s symptom-based evaluations?
Dr. Insel: If we could identify subtypes of autism based on clusters of cognitive and biological markers, it could help in two ways. One is to guide us in the direction of who should get which treatment. These could be tailored behavioral treatments or medicines that target specific biological pathways or a combination of both.
The other very important possibility comes from the insight that behavior is a lagging indicator of a brain disorder. Whether you’re talking about autism or Alzheimer’s, behavior is the last thing to change. What’s happening in the brain before the behaviors emerge? It’s so important to look for these earlier indicators. If you don’t intervene until the behaviors emerge, then you’re going to get there late in the game.
If you review the major advances in modern medicine, many of these have to do with early detection and early intervention. We no longer wait for a heart attack to diagnose and treat ischemic heart disease. We now know the biological markers, so we can intervene early and stop the process.
Autism Speaks: In May, the new DSM-5 diagnostic manual merged the once-distinct behavioral subtypes of autism spectrum disorders into a single diagnosis of autism spectrum disorder. Was this the wrong direction?
Dr. Insel: Actually, I think it was the right thing to do at this time. We simply don’t know enough at this time to identify the subtypes. We need to be humble at this stage.
When the DSM-5 came out, I was quoted in the media in a way that made it sound like I was criticizing the psychiatric establishment. When I said, “Patients deserve better,” I was referring to how the scientific community has failed the autism community. We haven’t developed the information base we need to provide something better than a symptom-based system of diagnosis and treatment. That’s egregious. It’s unacceptable. We wouldn’t accept symptom based diagnosis in any other area of medicine. Why accept it for brain disorders? So when I said patients deserve better, it was a call to action in the research arena.
Autism Speaks:Thanks, Dr. Insel.
Dr. Insel: And thanks to Autism Speaks. You have great people in your organization doing very important work.
For Autism Speaks' daily coverage from Neuroscience 2013, click here.