Tag: Thomas Insel

A Case for Open Data

A couple of weeks ago, President Obama launched a new open data policy (pdf) for the federal government. Declaring that, “…information is a valuable asset that is multiplied when it is shared,” the Administration’s new policy empowers federal agencies to promote an environment in which shareable data are maximally and responsibly accessible. The policy supports broad access to government data in order to promote entrepreneurship, innovation, and scientific discovery.

If the White House needed an example of the power of data sharing, it could point to the Psychiatric Genomics Consortium (PGC). The PGC began in 2007 and now boasts 123,000 samples from people with a diagnosis of schizophrenia, bipolar disorder, ADHD, or autism and 80,000 controls collected by over 300 scientists from 80 institutions in 20 countries. This consortium is the largest collaboration in the history of psychiatry.

More important than the size of this mega-consortium is its success. There are perhaps three million common variants in the human genome. Amidst so much variation, it takes a large sample to find a statistically significant genetic signal associated with disease. Showing a kind of “selfish altruism,” scientists began to realize that by pooling data, combining computing efforts, and sharing ideas, they could detect the signals that had been obscured because of lack of statistical power. In 2011, with 9,000 cases, the PGC was able to identify 5 genetic variants associated with schizophrenia. In 2012, with 14,000 cases, they discovered 22 significant genetic variants. Today, with over 30,000 cases, over 100 genetic variants are significant. None of these alone are likely to be genetic causes for schizophrenia, but they define the architecture of risk and collectively could be useful for identifying the biological pathways that contribute to the illness.

We are seeing a similar culture change in neuroimaging. The Human Connectome Project is scanning 1,200 healthy volunteers with state of the art technology to define variation in the brain’s wiring. The imaging data, cognitive data, and de-identified demographic data on each volunteer are available, along with a workbench of web-based analytical tools, so that qualified researchers can obtain access and interrogate one of the largest imaging data sets anywhere. How exciting to think that a curious scientist with a good question can now explore a treasure trove of human brain imaging data—and possibly uncover an important aspect of brain organization—without ever doing a scan.

Continue reading…

Transforming Diagnosis

In a few weeks, the American Psychiatric Association will release its new edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). This volume will tweak several current diagnostic categories, from autism spectrum disorders to mood disorders. While many of these changes have been contentious, the final product involves mostly modest alterations of the previous edition, based on new insights emerging from research since 1990 when DSM-IV was published. Sometimes this research recommended new categories (e.g., mood dysregulation disorder) or that previous categories could be dropped (e.g., Asperger’s syndrome).1

The goal of this new manual, as with all previous editions, is to provide a common language for describing psychopathology. While DSM has been described as a “Bible” for the field, it is, at best, a dictionary, creating a set of labels and defining each. The strength of each of the editions of DSM has been “reliability” – each edition has ensured that clinicians use the same terms in the same ways. The weakness is its lack of validity. Unlike our definitions of ischemic heart disease, lymphoma, or AIDS, the DSM diagnoses are based on a consensus about clusters of clinical symptoms, not any objective laboratory measure. In the rest of medicine, this would be equivalent to creating diagnostic systems based on the nature of chest pain or the quality of fever. Indeed, symptom-based diagnosis, once common in other areas of medicine, has been largely replaced in the past half century as we have understood that symptoms alone rarely indicate the best choice of treatment.

Patients with mental disorders deserve better. Continue reading…


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