Psychiatric genetics and the structure of psychopathology.

Mol Psychiatry
Authors
Keywords
Abstract

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.

Year of Publication
2019
Journal
Mol Psychiatry
Volume
24
Issue
3
Pages
409-420
Date Published
2019 03
ISSN
1476-5578
DOI
10.1038/s41380-017-0010-4
PubMed ID
29317742
PubMed Central ID
PMC6684352
Links
Grant list
K24 MH094614 / MH / NIMH NIH HHS / United States
U01 MH109536 / MH / NIMH NIH HHS / United States