The new edition of psychiatry’s “bible” remains crucial for diagnosis and treatment; but it also needs constant updates with research on the underlying causes of mental disorders

Psychiatrist Herb Pardes, M.D., is the executive vice chairman for the Board of NewYork-Presbyterian Hospital. Previously he served as the hospital’s president and CEO and before that as the director of the National Institute of Mental Health, the president of the American Psychiatric Association and the dean of the Columbia University College of Physicians and Surgeons. Dr. Pardes also serves on the Board of Autism Speaks.

This has been an eventful week for the mental health community. Last Thursday brought the CDC announcement that nearly 20% of children ages 3-17 have a mental health disorder with autism landing near the top of the list. And Saturday saw the long-anticipated publication of the fifth edition the Diagnostic Statistical Manual of Mental Disorders (DSM-5), a tool that has been called psychiatry’s “bible.” Never before has its revision stirred such discussion among patient and provider groups. That concern has been deepened by reports that the director of the National Institute of Mental Health, Tom Insel, M.D., said the manual lacks “validity.”

That’s unfortunate because, in fact, Dr. Insel and others in the field – including me – embrace this manual as providing us with the most up-to-date information on diagnosing and classifying mental disorders. By giving us a common terminology, the DSM helps us pursue the kind of global research needed to transform our understanding of mental disorders. With this and every edition, we’ve also added knowledge that can improve diagnosis and treatment.

Beyond Symptoms; Research on Causes

At the same time, I understand the frustration of families struggling with autism, schizophrenia and many other brain disorders. At present, we can describe these conditions only by their symptoms. We are still struggling to understand their causes.

In fact, each of these conditions may likely result from many different factors, though each likely involve some degree of genetic predisposition. In some cases, two people can have the same gene variation. But only one develops a brain disorder. Or one person with a gene mutation develops autism, and someone with a slightly different variation in the same gene develops schizophrenia. Even individuals with the same diagnosis may have differences in both symptoms and underlying brain circuitry.

Only by understanding and distinguishing the underlying biology of brain disorders can we develop therapies that go beyond reducing symptoms to targeting a cause. Only then can we deliver “personalized medicine.”

This is the crux of what Dr. Insel and others have been arguing: Clusters of behavioral symptoms are helpful for guiding diagnosis. But we need to focus our research on the genetics and other biological factors that cause brain disorders.

Consider the physician of 200 years ago. With great fanfare, she/he might pronounce that you suffer from, say, “fever.” He might even have a treatment to reduce your temperature. Of course, today’s doctors know to look for the root cause of the fever and address it.

Symptom-based diagnosis, once common in many areas of medicine, is being replaced – or at least complemented by – laboratory tests. Under Dr. Insel’s guidance, the NIMH is supporting research aimed at strengthening our diagnostic system for psychiatric conditions.

The Promise of Genomics and Brain Imaging

The good news is that I’ve never been more hopeful that we’re poised to deliver on biomarker-based, personalized medicine for brain disorders. Every year the cost of whole-genome sequencing drops further. Large-scale genomic research is increasingly affordable and genetic testing is becoming a standard part of clinical diagnosis.

Autism Speaks, for example, is collaborating with the Beijing Genome Institute in a historic whole-genome sequencing of 10,000 individuals in families affected by autism. Already, preliminary analysis of the first 200 genomes of this “10K Autism Genome Project” is providing information with clear usefulness in the clinical management of autism. In the future, this wealth of genomic information could guide the development of precision autism and psychiatric disorders medicines based on each individual’s genetic profile.

Beyond genetics, we’re seeing revolutionary advances in noninvasive brain imaging such as MRI and CAT scans. Technologies such as these allow us to look at differences in brain circuitry. As we deepen our understanding of these mechanisms, we will further advance our ability to develop effective, targeted therapies.

And so I join with Dr. Insel in calling for more research on the genetics and biology of brain development. In this way we will find the hidden factors beneath a broad range of brain disorders.

We must also remember that pharmaceutical companies are increasingly on the lookout for more reliable treatment targets. If we in psychiatric research can’t provide them with these targets, then pharmaceutical companies will invest their dollars elsewhere. That would be a tragedy given the prevalence of mental health disorders and their burden on our families and society.

We know that this research can more than pay for itself – by both raising quality of life and function for individuals and reducing costs to our healthcare system and society.

DSM-5 and Beyond

For now, the DSM-5 is the best tool available for clinicians diagnosing and treating mental health conditions. Ten to twenty years from now, however, I envision a DSM edition that outlines diagnosis based on genetic testing, brain scans and other laboratory tests alongside behavioral symptoms.

Like Dr. Insel, I am calling for as much federal funding as possible. I am also tremendously grateful to organizations such as Autism Speaks and the Brain and Behavior Research Foundation whose supporters are finding the money to support this research.

This blog post is by Ali Dyer, the Social Marketing Manager at Autism Speaks. 

On May 16^th I had the pleasure of meeting Temple Grandin; you know THE Temple Grandin. She agreed to host a live chat with us discussing her new book, The Autistic Brain, and I was thrilled.

I have to say though, I was nervous. As many of you will agree, Temple is among the biggest autism ‘celebrities.’ I admire her in so many ways. She had the drive to be educated and to work in a time when women weren’t always encouraged to do so. Temple also faced many challenges that stemmed from having autism, but rather than retreat and give-in, she faced them head on and had the will to succeed. Like come on, the squeeze machine?!?! Brilliant.

My family and I often find ourselves going back to HBO’s original film Temple Grandin when we talk about my brother. I thought that I understood how Jeff sees the world, but after viewing the film it really came to life for me. I’m no movie critic, but it is a must see!

Temple is one of the best resources the autism community has and to be able to sit side-by-side with her was a total honor. When we finished up, Temple told me that she wanted to come back and do more – I am going to hold her to it!! 

Below is our chat transcript

There was a total of 2,857 live readers(WOW!) and has been replayed 2,475 times and counting!!

You can purchase 'The Autistic Brain' here!