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精神医学中药物基因组学检测的综述与共识

Review and Consensus on Pharmacogenomic Testing in Psychiatry.

机构信息

Departments of Medical Genetics, Psychiatry, Physiology & Pharmacology, University of Calgary, Calgary, AB, Canada.

Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.

出版信息

Pharmacopsychiatry. 2021 Jan;54(1):5-17. doi: 10.1055/a-1288-1061. Epub 2020 Nov 4.

Abstract

The implementation of pharmacogenomic (PGx) testing in psychiatry remains modest, in part due to divergent perceptions of the quality and completeness of the evidence base and diverse perspectives on the clinical utility of PGx testing among psychiatrists and other healthcare providers. Recognizing the current lack of consensus within the field, the International Society of Psychiatric Genetics assembled a group of experts to conduct a narrative synthesis of the PGx literature, prescribing guidelines, and product labels related to psychotropic medications as well as the key considerations and limitations related to the use of PGx testing in psychiatry. The group concluded that to inform medication selection and dosing of several commonly-used antidepressant and antipsychotic medications, current published evidence, prescribing guidelines, and product labels support the use of PGx testing for 2 cytochrome P450 genes (). In addition, the evidence supports testing for human leukocyte antigen genes when using the mood stabilizers carbamazepine (), oxcarbazepine (), and phenytoin (CYP2C9, HLA-B). For valproate, screening for variants in certain genes () is recommended when a mitochondrial disorder or a urea cycle disorder is suspected. Although barriers to implementing PGx testing remain to be fully resolved, the current trajectory of discovery and innovation in the field suggests these barriers will be overcome and testing will become an important tool in psychiatry.

摘要

精神医学中药物基因组学(PGx)检测的实施仍然有限,部分原因是对证据基础的质量和完整性存在不同看法,以及精神科医生和其他医疗保健提供者对 PGx 检测的临床实用性存在不同看法。认识到该领域目前缺乏共识,国际精神遗传学学会召集了一组专家,对与精神药物相关的 PGx 文献、处方指南和产品标签进行叙述性综合分析,以及与在精神医学中使用 PGx 检测相关的关键考虑因素和限制。该小组得出结论,为了为几种常用的抗抑郁药和抗精神病药的药物选择和剂量调整提供信息,目前发表的证据、处方指南和产品标签支持使用 2 个细胞色素 P450 基因()进行 PGx 检测。此外,当使用心境稳定剂卡马西平()、奥卡西平()和苯妥英(CYP2C9、HLA-B)时,证据支持检测人类白细胞抗原基因。对于丙戊酸钠,当怀疑存在线粒体疾病或尿素循环障碍时,建议对某些基因中的变异进行筛查()。尽管实施 PGx 检测的障碍仍有待完全解决,但该领域的发现和创新的当前轨迹表明,这些障碍将被克服,检测将成为精神医学中的重要工具。

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