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  • What a finding of gene copy...
    Vorstman, Jacob; Scherer, Stephen W

    Current opinion in genetics & development, June 2021, 2021-06-00, 20210601, Letnik: 68
    Journal Article

    Among medical disciplines, diagnosis in psychiatry depends highly upon descriptive signs and symptoms, rather than biomarkers. Clear descriptions of specific genetic etiologies have been lacking; genomic technologies, however, are rapidly changing that landscape. Notably, chromosomal microarrays—which detect gene copy number variants (CNVs)—are a recommended standard of care for neurodevelopmental disorders. As a result, an increasing number of patients now receive a clinical diagnosis based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) and an identified genetic etiological variant. However, psychiatric and genetic diagnoses are frequently communicated and managed as two disconnected diagnostic parameters. Here, we advocate for a transition model, allowing the integration of genetic etiological information—starting with diagnostically proven CNVs—within the DSM-5 classification framework.