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本文引用的文献

1
Psychiatric genetic counseling: A mapping exercise.精神科遗传咨询:映射练习。
Am J Med Genet B Neuropsychiatr Genet. 2019 Dec;180(8):523-532. doi: 10.1002/ajmg.b.32735. Epub 2019 Jun 20.
2
Patient perspectives on the process and outcomes of psychiatric genetic counseling: An "Empowering Encounter".患者对精神科遗传咨询过程及结果的看法:一次“赋能相遇”
J Genet Couns. 2019 Aug;28(4):856-868. doi: 10.1002/jgc4.1128. Epub 2019 May 3.
3
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.双相情感障碍和精神分裂症的基因组剖析,包括 28 个子表型。
Cell. 2018 Jun 14;173(7):1705-1715.e16. doi: 10.1016/j.cell.2018.05.046.
4
Risk communication in genetic counseling: Exploring uptake and perception of recurrence numbers, and their impact on patient outcomes.遗传咨询中的风险沟通:探索复发数量的接受度和感知,以及它们对患者结局的影响。
Clin Genet. 2018 Aug;94(2):239-245. doi: 10.1111/cge.13379. Epub 2018 Jun 12.
5
Self-Stigma in Relatives of people with Mental Illness scale: development and validation.《精神疾病患者亲属的自我污名量表:编制与验证》
Br J Psychiatry. 2018 Mar;212(3):169-174. doi: 10.1192/bjp.2017.23. Epub 2018 Feb 5.
6
Patient outcomes of genetic counseling: Assessing the impact of different approaches to family history collection.患者接受遗传咨询的效果:评估不同家族史采集方法的影响。
Clin Genet. 2018 Apr;93(4):830-836. doi: 10.1111/cge.13176. Epub 2018 Feb 20.
7
The Efficacy of Genetic Counseling for Psychiatric Disorders: a Meta-Analysis.精神疾病遗传咨询的疗效:一项荟萃分析。
J Genet Couns. 2017 Dec;26(6):1341-1347. doi: 10.1007/s10897-017-0113-8. Epub 2017 Jun 14.
8
Genetic Counseling for Alcohol Addiction: Assessing Perceptions and Potential Utility in Individuals with Lived Experience and Their Family Members.酒精成瘾的遗传咨询:评估有实际经历的个体及其家庭成员的认知和潜在效用。
J Genet Couns. 2017 Oct;26(5):963-970. doi: 10.1007/s10897-017-0075-x. Epub 2017 Feb 7.
9
Prenatal genetic counselling for psychiatric disorders.针对精神疾病的产前遗传咨询
Prenat Diagn. 2017 Jan;37(1):6-13. doi: 10.1002/pd.4878. Epub 2016 Aug 23.
10
How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians' Practice.医生如何决定将患者转介至精神科遗传咨询?一项关于医生实践的定性研究。
J Genet Couns. 2016 Dec;25(6):1235-1242. doi: 10.1007/s10897-016-9961-x. Epub 2016 May 17.

基于证据的精神障碍遗传咨询:路线图。

Evidence-Based Genetic Counseling for Psychiatric Disorders: A Road Map.

机构信息

Departments of Psychiatry and Medical Genetics, University of British Columbia, Vancouver, British Columbia V5Z 4H4, Canada.

BC Mental Health and Substance Use Services Research Institute, Vancouver, British Columbia V6Z 2A9, Canada.

出版信息

Cold Spring Harb Perspect Med. 2020 Jun 1;10(6):a036608. doi: 10.1101/cshperspect.a036608.

DOI:10.1101/cshperspect.a036608
PMID:31501264
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7263094/
Abstract

Psychiatric disorders, such as schizophrenia, depression, anxiety, and bipolar disorder, are common conditions that arise as a result of complex and heterogeneous combinations of genetic and environmental factors. In contrast to childhood neurodevelopmental conditions such as autism and intellectual disability, there are no clinical practice guidelines for applying genetic testing in the context of these conditions. But genetic counseling and genetic testing are not synonymous, and people who live with psychiatric disorders and their family members are often interested in what psychiatric genetic counseling can offer. Further, research shows that it can improve outcomes like empowerment for this population. Despite this, psychiatric genetic counseling is not yet routinely or widely offered. This review describes the state of the evidence about the process and outcomes of psychiatric genetic counseling, focusing on its clinical implications and remaining research gaps.

摘要

精神障碍,如精神分裂症、抑郁症、焦虑症和双相情感障碍,是常见的疾病,是由遗传和环境因素的复杂和异质组合引起的。与儿童神经发育状况(如自闭症和智力残疾)不同,这些情况下并没有应用基因检测的临床实践指南。但是,遗传咨询和基因检测不是同义词,患有精神障碍的人和他们的家庭成员通常对精神科遗传咨询能提供什么感兴趣。此外,研究表明,这可以改善这一人群的赋权等结果。尽管如此,精神科遗传咨询还没有常规或广泛提供。本综述描述了关于精神科遗传咨询过程和结果的证据状况,重点介绍了其临床意义和尚存的研究空白。