For over a century, psychiatric disorders have been defined by expert opinion and clinical observation. The modern DSM has relied on a consensus of experts to define categorical syndromes based on clusters of symptoms and signs, and, to some extent, external validators, such as longitudinal course and response to treatment. In the absence of an established etiology, psychiatry has struggled to validate these descriptive syndromes, and to define the boundaries between disorders and between normal and pathologic variation. Recent advances in genomic research, coupled with large-scale collaborative efforts like the Psychiatric Genomics Consortium, have identified hundreds of common and rare genetic variations that contribute to a range of neuropsychiatric disorders. At the same time, they have begun to address deeper questions about the structure and classification of mental disorders: To what extent do genetic findings support or challenge our clinical nosology? Are there genetic boundaries between psychiatric and neurologic illness? Do the data support a boundary between disorder and normal variation? Is it possible to envision a nosology based on genetically informed disease mechanisms? This review provides an overview of conceptual issues and genetic findings that bear on the relationships among and boundaries between psychiatric disorders and other conditions. We highlight implications for the evolving classification of psychopathology and the challenges for clinical translation.
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Supported in part by NIH awards K24MH094614 (JWS), the Research Council of Norway (223273) and KG Jebsen Stiftelsen (OAA). Dr. Smoller is a Tepper Family MGH Research Scholar. “All of Us” is a service mark of the U.S. Department of Health and Human Services. The authors thank Nicholas Merriam for assistance with producing the figure.
Dr. Smoller is an unpaid member of the Scientific Advisory Board of PsyBrain Inc. and the Bipolar/Depression Research Community Advisory Panel of 23andMe. Dr. Andreassen has received speaker’s honorarium from Lundbeck. The remaining authors have no disclosures.
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The original version of this article was revised: Modifications have been made to the Table 1 legend. Full information regarding corrections made can be found in the erratum/correction article for this article.
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Smoller, J.W., Andreassen, O.A., Edenberg, H.J. et al. Psychiatric genetics and the structure of psychopathology. Mol Psychiatry 24, 409–420 (2019). https://doi.org/10.1038/s41380-017-0010-4
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