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精神遗传学临床转化的十大挑战。

Ten challenges for clinical translation in psychiatric genetics.

机构信息

Translational Neurogenomics Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.

出版信息

Nat Genet. 2022 Oct;54(10):1457-1465. doi: 10.1038/s41588-022-01174-0. Epub 2022 Sep 22.

DOI:10.1038/s41588-022-01174-0
PMID:36138228
Abstract

Genome-wide association studies have identified hundreds of robust genetic associations underlying psychiatric disorders and provided important biological insights into disease onset and progression. There is optimism that genetic findings will pave the way to precision psychiatry by facilitating the development of more effective treatments and the identification of groups of patients that these treatments should be targeted toward. However, there are several challenges that must be addressed before genetic findings can be translated into the clinic. In this Perspective, we highlight ten challenges for the field of psychiatric genetics, focused on the robust and generalizable detection of genetic risk factors, improved definition and assessment of psychopathology and achieving better clinical indicators. We discuss recent advancements in the field that will improve the explanatory and predictive power of genetic data and ultimately contribute to improving the management and treatment of patients with a psychiatric disorder.

摘要

全基因组关联研究已经确定了数百个与精神疾病相关的稳健遗传关联,并为疾病的发生和发展提供了重要的生物学见解。人们乐观地认为,遗传发现将通过促进更有效的治疗方法的开发和确定这些治疗方法应针对的患者群体,为精准精神病学铺平道路。然而,在遗传发现能够转化为临床实践之前,还必须解决几个挑战。在这篇观点文章中,我们重点介绍了精神病遗传学领域的十个挑战,这些挑战集中在稳健和可推广的遗传风险因素检测、改善精神病理学的定义和评估以及实现更好的临床指标上。我们讨论了该领域的最新进展,这些进展将提高遗传数据的解释和预测能力,并最终有助于改善精神障碍患者的管理和治疗。

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