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预测性基因检测的评估与监管问题。

Issues concerning the evaluation and regulation of predictive genetic testing.

作者信息

Zimmern R L

机构信息

Foundation for Genomics and Population Health, Cambridge, UK,

出版信息

J Community Genet. 2014 Jan;5(1):49-57. doi: 10.1007/s12687-012-0111-3. Epub 2012 Jul 8.

Abstract

This paper is a précis of my keynote address at the Symposium on Predictive Genetic Testing organised by the Robert Koch Institute in Berlin. The talk is based on reflections which I have had over a number of years on genetic testing and its evaluation and regulation. It presents a thesis, which I hope will generate discussion and comment. A theme which will run through the paper is the need for precise definition of terms before making any normative statement about such terms. Our failure to do so in genetic discourse is at best confusing and at worst capable of resulting in inappropriate (and sometimes harmful) regulatory responses.

摘要

本文是我在柏林罗伯特·科赫研究所组织的预测性基因检测研讨会上主题演讲的摘要。此次演讲基于我多年来对基因检测及其评估与监管的思考。它提出了一个论点,我希望能引发讨论和评论。贯穿本文的一个主题是,在对这些术语做出任何规范性陈述之前,需要对其进行精确界定。在基因领域,我们若做不到这一点,往轻了说是令人困惑,往重了说则可能导致不恰当(有时甚至有害)的监管反应。

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本文引用的文献

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The evaluation of genetic tests.基因检测的评估
J Public Health (Oxf). 2007 Sep;29(3):246-50. doi: 10.1093/pubmed/fdm028. Epub 2007 May 24.
6
Ensuring the appropriate use of genetic tests.确保基因检测的合理使用。
Nat Rev Genet. 2004 Dec;5(12):955-9. doi: 10.1038/nrg1495.
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Genetic testing: a conceptual exploration.基因检测:概念性探索
J Med Ethics. 1999 Apr;25(2):151-6. doi: 10.1136/jme.25.2.151.

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