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January 2018

Coherence Through Incongruence—Can Genetic Markers Inform Nosology After All?

Author Affiliations
  • 1Genetic Basis of Mood and Anxiety Section, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, US Department of Health and Human Services, Bethesda, Maryland
JAMA Psychiatry. 2018;75(1):7-8. doi:10.1001/jamapsychiatry.2017.3484

The search for biomarkers of psychiatric illness has a long and checkered history. Most studies have focused on neuroanatomical, biochemical, or functional brain measures. Despite real progress in recent years, overall results have been modest.1 Similarly, individual genetic markers show small effects that are not consistent in every sample.2 These realities have helped promote a move away from existing diagnostic categories toward dimensional measures.3 Thus, it is all the more surprising that a particular kind of genetic assay, known as the polygenic risk score (PRS), has proven to be 1 of the most robust and informative biomarkers of categorical psychiatric diagnoses seen to date.4

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