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精神疾病的遗传反馈:我们现在在哪里,我们要去哪里。

Genetic feedback for psychiatric conditions: Where are we now and where are we going.

机构信息

Department of Human and Molecular Genetics, Virginia Commonwealth University, School of Medicine, Richmond, Virginia, USA.

Department of Psychology, Virginia Commonwealth University, Richmond, Virginia, USA.

出版信息

Am J Med Genet B Neuropsychiatr Genet. 2020 Oct;183(7):423-432. doi: 10.1002/ajmg.b.32815. Epub 2020 Aug 19.

Abstract

Genome-wide association studies are rapidly advancing our understanding of the genetic architecture of complex disorders, including many psychiatric conditions such as major depression, schizophrenia, and substance use disorders. One common goal of genome-wide association studies is to use findings for enhanced clinical prediction in the future, which can aid in identifying at-risk individuals to enable more effective prevention screening and treatment strategies. In order to achieve this goal, we first need to gain a better understanding of the issues surrounding the return of complex genetic results. In this article, we summarize the current literature on: (a) genetic literacy in the general population, (b) the public's interest in receiving genetic test results for psychiatric conditions, (c) how individuals react to and interpret their genotypic information for specific psychiatric conditions, and (d) gaps in our knowledge that will be critical to address as we move toward returning genotypic information for psychiatric conditions in both research and clinical settings. By reviewing extant studies, we aim to increase awareness of the potential benefits and consequences of returning genotypic information for psychiatric conditions.

摘要

全基因组关联研究正在迅速提高我们对复杂疾病遗传结构的理解,包括许多精神疾病,如重度抑郁症、精神分裂症和物质使用障碍。全基因组关联研究的一个共同目标是利用研究结果来提高未来的临床预测能力,这有助于识别高危个体,从而制定更有效的预防筛查和治疗策略。为了实现这一目标,我们首先需要更好地了解围绕复杂遗传结果回报的问题。在本文中,我们总结了当前关于以下方面的文献:(a)普通人群的遗传素养,(b)公众对接收精神疾病遗传检测结果的兴趣,(c)个体如何对特定精神疾病的基因型信息做出反应和解释,以及(d)我们在知识上的差距,这些差距在我们朝着在研究和临床环境中为精神疾病回报基因型信息的方向发展时至关重要。通过回顾现有研究,我们旨在提高对回报精神疾病基因型信息的潜在益处和后果的认识。

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