基因拷贝数变异的发现对发育性神经精神障碍的诊断有何帮助。
What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders.
机构信息
Department of Psychiatry, Hospital for Sick Children University of Toronto, Toronto, ON, Canada; Program in Genetics and Genome Biology, Hospital for Sick Children, Canada; The Centre for Applied Genomics, Hospital for Sick Children, Canada.
Program in Genetics and Genome Biology, Hospital for Sick Children, Canada; The Centre for Applied Genomics, Hospital for Sick Children, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Canada.
出版信息
Curr Opin Genet Dev. 2021 Jun;68:18-25. doi: 10.1016/j.gde.2020.12.017. Epub 2021 Jan 14.
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.
在医学领域中，精神病学的诊断高度依赖于描述性的体征和症状，而不是生物标志物。明确的特定遗传病因描述一直缺乏；然而，基因组技术正在迅速改变这种局面。值得注意的是，染色体微阵列——检测基因拷贝数变异（CNVs）——是神经发育障碍的推荐护理标准。因此，现在越来越多的患者根据《精神障碍诊断与统计手册》（DSM-5）和确定的遗传病因变体获得临床诊断。然而，精神科和遗传学诊断通常被视为两个不相关的诊断参数进行交流和管理。在这里，我们提倡一种过渡模型，允许在 DSM-5 分类框架内整合遗传病因信息——从诊断证明的 CNVs 开始。
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