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精神分裂症的遗传与家庭咨询:我们目前的进展如何?

Genetic and family counselling for schizophrenia: Where do we stand now?

作者信息

Roos Johannes L

机构信息

Department of Psychiatry, University of Pretoria, South Africa.

出版信息

S Afr J Psychiatr. 2016 May 6;22(1):831. doi: 10.4102/sajpsychiatry.v22i1.831. eCollection 2016.

DOI:10.4102/sajpsychiatry.v22i1.831
PMID:40059871
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11887480/
Abstract

BACKGROUND

Recent genetic findings have led to profound changes in genetic and family counselling for schizophrenia patients and their families.

OBJECTIVES

The article gives an overview of the present knowledge regarding the genetic and family counselling for schizophrenia.

METHOD

Literature searches were performed on the MEDLINE database (2011-2015) and African Healthline. A current alert service which provides the most recent literature on the topic on a monthly basis was also used in the study. A clinical case example is presented as is experienced in daily psychiatric practice.

RESULTS

Genetic risk communication has become the responsibility of the multiprofessional treatment team, moving away from specialists in the field. The treatment team provides information on a daily basis regarding risk predictors in the management of schizophrenia, including risk of relapse, suicide and comorbid substance use. Although genetic information is unique and has implications for blood relatives, genetic risk factors only rarely provide information that is inherently different from that provided by other risk predictors commonly used in healthcare. The common variant common disease and rare variant common disease models as contrasting hypothesis of the genetics of schizophrenia are discussed and debated. An example of a family counselled is given and the place of commercial companies that offer directly to the consumer affordable personal DNA testing for psychiatric illness is discussed. Ethical issues without resolution regarding genetic counselling of schizophrenia are debated.

CONCLUSIONS

Recent genetic findings must lead to profound changes in genetic and family counselling in schizophrenia. Exposed attributable risk has immediate effects on genetic counselling of schizophrenia. Psychiatric risk counselling has thus changed from risk estimates based on family history to estimates based on test results in specific individuals.

摘要

背景

近期的遗传学研究结果已使精神分裂症患者及其家属的遗传咨询和家庭咨询发生了深刻变化。

目的

本文概述了目前关于精神分裂症遗传咨询和家庭咨询的知识。

方法

在MEDLINE数据库(2011 - 2015年)和非洲健康热线进行文献检索。本研究还使用了一项当前警报服务,该服务每月提供有关该主题的最新文献。文中呈现了一个日常精神科实践中遇到的临床病例。

结果

遗传风险沟通已从该领域的专家手中转移,成为多专业治疗团队的职责。治疗团队每天都会提供有关精神分裂症管理中风险预测因素的信息,包括复发风险、自杀风险和共病物质使用风险。虽然遗传信息是独特的,对血亲有影响,但遗传风险因素很少能提供与医疗保健中常用的其他风险预测因素本质上不同的信息。文中讨论并辩论了作为精神分裂症遗传学对比假设的常见变异常见疾病模型和罕见变异常见疾病模型。给出了一个接受咨询的家庭的例子,并讨论了向消费者直接提供经济实惠的精神疾病个人DNA检测的商业公司的作用。文中还辩论了关于精神分裂症遗传咨询尚未解决的伦理问题。

结论

近期的遗传学研究结果必然会使精神分裂症的遗传咨询和家庭咨询发生深刻变化。暴露的归因风险对精神分裂症的遗传咨询有直接影响。因此,精神科风险咨询已从基于家族病史的风险评估转变为基于特定个体检测结果的评估。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/55ec/11887480/2a41f195498d/SAJPsy-22-831-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/55ec/11887480/2a41f195498d/SAJPsy-22-831-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/55ec/11887480/2a41f195498d/SAJPsy-22-831-g001.jpg

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本文引用的文献

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Biological insights from 108 schizophrenia-associated genetic loci.108 个精神分裂症相关遗传位点的生物学见解。
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