In Part 1 of this series, we learned why the current system of psychiatric diagnosis is in trouble.  In this post we’ll learn how that trouble arose—and what a clever group of researchers is doing to get around it.

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In the olden days of the 1970s, diagnosis of personality disorders was in such disarray that the best way to change a diagnosis from bipolar disorder to schizophrenia was simply to fly from London to New York City—thus switching the psychiatrists who are doing the diagnosing.2 To get everyone on the same page and increase diagnosis reliability, the Diagnostic and Statistical Manual of Mental Disorders (called the “DSM” for short), which had passed through both military and academic hands under different names over most of the preceding century, became widely accepted as a descriptive bible for mental health professionals.  (The DSM is currently in its fourth revision, with a fifth expected in 2012.)  

And so a manual that had grown out of needs from a century past was gradually patched and repatched, working its way into the modern day with the creaky ease and modernity of a refurbished Edsel. Responsibility for updating the manual—and thus defining personality dysfunction—is now in the hands of the academics who do the fundamental research the manual is based on.

Research is difficult and expensive.  Quite understandably, those who want to obtain funding for research involving personality dysfunction must use a common professional terminology—and naturally enough, that terminology ends up being defined by the categories of the DSM.  Therefore, research into “irritability,” say, wouldn't be fundable.  But research into the irritability seen as part of the diagnosis of antisocial personality disorder described in the DSM would be fundable.  More than that, the Food and Drug Administration relies on the DSM definitions for the complex drug approval process.  So industry, which depends on the FDA for approval of new drugs, follows academia in performing research and developing products that fit into pre-existing DSM categories and concepts.  Clinics and insurers, surrounded on all sides by DSM-style thinking, capitulate to the status quo.

The bottom line is this: new research always solidifies and strengthens pre-existing DSM categories, because that’s how the research must be conceptualized at every point in the process to pass from inspiration through funding to fruition.

With one very prominent exception: The Consortium for Neuropsychiatric Phenomics--Bob Bilder’s brain child, funded with a $22.5 million dollar grant from the National Institutes of Health.

The word phenomics in the Consortium’s title refers to the study of the complicated array of all observable human traits and characteristics—the phenome. This is an unimaginably complex subject, far more difficult to understand than the paltry human genome, with its “3 billion long string of bases, selected from a pool of only four nucleic acids, organized in a neat one-dimensional sequence.”3  Phenomics seeks to study phenotypes on a genome-wide scale.  In other words, it is building a whole new way of understanding humans, from “molecule to mind.”4 This is very unlike the old methods of observing people—which relied on experts who specialized in particular disciplines and disorders.  Phenomics, in fact, isn’t a discipline—it’s an emergent “transdiscipline” that crosses boundaries and knits together the disciplines of biology, genetics, neural and cognitive systems, psychiatry, mathematical modeling, and statistics.  (“Phenomics,” Bilder waggishly points out, “is the Phinal Phrontier.”)

Researchers are finding that although genes, along with environment, have a profound effect on our personality, the effect of any individual gene is often very small—less than 1%.  So finding which genes might have their minute effect on any individual aspect of a phenotype is deucedly difficult.   Making matters even tougher, genes that predispose towards schizophrenia in one person may have no effect at all when “silenced” by a mixture of different genes in another person.  Thus, instead of using the traditional strategy of mapping a single gene’s possibly tiny effect on any particular disorder, the phenomics approach is to take great swathes of thousands of genes at once and compare them with specific aspects of a phenotype in thousands of people—perfectly normal people, as well as those who suffer psychiatric dysfunction.  This more sophisticated way of analyzing data is a form of GWAS, pronounced “gee-wass,” that is, a “genome-wide association study.”  

So instead of guessing and checking out a single gene, say, from the 25,000 or so in the human genome that might help cause diabetes, the GWAS methodology checks every gene in the genome, to see whether it might help cause—or prevent—diabetes and related syndromes.  

By comparing genomes with phenomes in thousands of people, the tiny effects of individual genes on specific molecules, proteins, cells, or neural structures can be teased from the data.  Understanding these effects is critical in creating new and effective therapies to help with disorders ranging from Alzheimer’s to schizophrenia to depression, as well as simply understanding the basics behind human memory and response inhibition.  The Consortium is also developing novel ways of connecting ideas, research, and data, to allow for sophisticated new ways of analyzing data.5

By the time my lunch with some of the key players of the Consortium for Neuropsychiatric Phenomics was done, I was literally a happy camper, with a renewed appreciation for the fantastic new approaches to psychiatric research that lie on the horizon.  I can’t help but think that the work of people like Bob Bilder, Stott Parker, and Fred Sabb will help eventually reveal not only the deepest truths within psychology, but within ourselves. 

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2. “Neuropsychiatric Genomics: Implications for Future Diagnosis and Treatment,” Psychiatry Grand Rounds, UCLA, October 14, 2008.  Available online at  (Accessed June 5, 2009.)
3.  RM Bilder and others, "Phenomics: The Systematic Study of Phenotypes on a Genome-Wide Scale," Neuroscience (Jan 20, 2009) [Epub ahead of print].
4.  N Freimer and C Sabatti, "The Human Phenome Project," Nature Genetics 34, no. (2003).
5.  FW Sabb and others, "A Collaborative Knowledge Base for Cognitive Phenomics," Molecular Psychiatry 13, no. 4 (2008).

Image Source: "Readings in Humanistic Psychiatry," by Kevin Turnquist, M.D.

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