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精神科医生应该了解遗传学什么?国际精神遗传学学会住培教育委员会的回顾与建议。

What Should a Psychiatrist Know About Genetics? Review and Recommendations From the Residency Education Committee of the International Society of Psychiatric Genetics.

机构信息

320 W 15th St, Indianapolis, IN 46202.

Indiana University School of Medicine, Indianapolis, Indiana, USA.

出版信息

J Clin Psychiatry. 2018 Nov 27;80(1):17nr12046. doi: 10.4088/JCP.17nr12046.

DOI:10.4088/JCP.17nr12046
PMID:30549495
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6480395/
Abstract

The International Society of Psychiatric Genetics (ISPG) created a Residency Education Committee with the purpose of identifying key genetic knowledge that should be taught in psychiatric training programs. Thirteen committee members were appointed by the ISPG Board of Directors, based on varied training, expertise, gender, and national origin. The Committee has met quarterly for the past 2 years, with periodic reports to the Board and to the members of the Society. The information summarized includes the existing literature in the field of psychiatric genetics and the output of ongoing large genomics consortia. An outline of clinically relevant areas of genetic knowledge was developed, circulated, and approved. This document was expanded and annotated with appropriate references, and the manuscript was developed. Specific information regarding the contribution of common and rare genetic variants to major psychiatric disorders and treatment response is now available. Current challenges include the following: (1) Genetic testing is recommended in the evaluation of autism and intellectual disability, but its use is limited in current clinical practice. (2) Commercial pharmacogenomic testing is widely available, but its utility has not yet been clearly established. (3) Other methods, such as whole exome and whole genome sequencing, will soon be clinically applicable. The need for informed genetic counseling in psychiatry is greater than ever before, knowledge in the field is rapidly growing, and genetic education should become an integral part of psychiatric training.

摘要

国际精神遗传学学会(ISPG)成立了一个住院医师教育委员会,旨在确定应在精神科培训计划中教授的关键遗传知识。该委员会的 13 名成员由 ISPG 董事会根据不同的培训、专业知识、性别和国籍任命。委员会在过去的 2 年中每季度开会一次,定期向董事会和学会成员报告。总结的信息包括精神遗传学领域的现有文献和正在进行的大型基因组联盟的成果。制定了临床相关遗传知识领域的大纲,并进行了分发和批准。本文件经过扩展和适当引用进行注释,并编写了手稿。目前已经获得了常见和罕见遗传变异对主要精神疾病和治疗反应的贡献的具体信息。当前面临的挑战包括:(1)遗传测试推荐用于自闭症和智力障碍的评估,但在当前的临床实践中其使用受到限制。(2)商业药物基因组学测试广泛可用,但尚未明确其效用。(3)其他方法,如外显子组和全基因组测序,很快将具有临床应用价值。精神病学中进行知情遗传咨询的需求比以往任何时候都更加迫切,该领域的知识正在迅速增长,遗传教育应成为精神科培训的一个组成部分。

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