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What is ideal genetic counselling? A survey of current international guidelines

机译:什么是理想的遗传咨询?对当前国际准则的调查

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摘要

The objective of this article is to review guidelines that address counselling in the context of genetic testing in order to summarise what aspects of counselling they consider most important, and to examine how they construct the ideal of genetic counselling. Guidelines were collected by examining the websites of different international professional, political, ethical and patient organisations, either previously known or found with the help of the Google search engine, and also using references listed in other studies. The most frequently mentioned topics in the collected 56 guidelines were sought, and this was carried out with the software package Qualitative Solutions and Research for Non-numerical Unstructured Data Indexing Searching and Theorizing. Topics related to genetic counselling that were mentioned in at least 30 of 56 collected documents were considered to be the most important aspects of genetic counselling. The ideal of genetic counselling is expressed in the analysed guidelines as being composed of (1) an appropriately trained professional who understands genetics and its ethical implications well; (2) relevant and objective information; (3) assurance of the counsellee's understanding; (4) psychological support; (5) informed consent; (6) confidentiality of genetic information; (7) considering familial implications; (8) appropriate handling of potential discrimination of testing; and (9) assuring autonomous decision-making by the counsellee. The ideal of genetic counselling is rather consistent in the guidelines, but there are some contradictions between the requirements of objective information-giving and adapting counselling to counsellee's circumstances.
机译:本文的目的是审查有关基因测试中咨询的指南,以总结他们认为咨询最重要的方面,并检查它们如何构建遗传咨询的理想。指南是通过检查不同的国际专业,政治,道德和患者组织的网站收集的,这些网站以前已知或借助于Google搜索引擎找到,也使用了其他研究中列出的参考文献。寻找了收集的56条准则中最常提及的主题,这是通过“定性解决方案和非数值非结构化数据索引搜索和理论研究”软件包进行的。在收集的56份文档中,至少有30篇提到了与遗传咨询有关的主题,这被认为是遗传咨询最重要的方面。遗传咨询的理想在分析的指南中表达为:(1)受过适当培训的专业人员,能够很好地了解遗传学及其伦理学含义; (2)相关客观信息; (3)保证被告人的理解; (4)心理支持; (五)知情同意; (六)遗传信息的保密; (7)考虑家庭影响; (8)适当处理潜在的测试歧视; (9)确保被咨询者的自主决策权。遗传咨询的理想在指南中是相当一致的,但是客观的信息提供要求与适应咨询对象情况的咨询之间存在一些矛盾。

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