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基因检测——是否应给予完全的自由?面向消费者的检测与医疗用途的基因检测

Genetic testing-whether to allow complete freedom? Direct to consumer tests versus genetic tests for medical purposes.

作者信息

Malgorzata Madej, Maria Sąsiadek, Michał Witt

机构信息

Institute of Political Science, University of Wroclaw, Wrocław, Poland.

Department of Genetics, Medical University of Wroclaw, Wrocław, Poland.

出版信息

J Appl Genet. 2022 Feb;63(1):119-126. doi: 10.1007/s13353-021-00670-z. Epub 2021 Nov 26.

Abstract

Direct-to-consumer tests opened the opportunity of genetic testing without medical supervision, e.g., without medical referral and medical interpretation of the results. Thus, these approaches allow for free access to information concerning individual genetic profile increasing the area of personal freedom, but also posing the risk of false (positive and negative) or misinterpreted results along with health and psychological negative consequences. The paper discusses medical and non-medical applications of DTC, exploring also the legal framework implemented by European states and organizations. These legal acts strive to control the developing DTC market through such basic principles as patient protection, informed consent, medical information confidentiality, and the rights to know and to refuse knowledge about one's genetic predispositions.

摘要

直接面向消费者的检测开启了在无医学监督情况下进行基因检测的可能性,例如,无需医学转诊以及对检测结果进行医学解读。因此,这些方法使得人们能够自由获取有关个人基因概况的信息,扩大了个人自由的范畴,但同时也带来了(阳性和阴性)错误结果或解读错误的风险,以及对健康和心理造成负面影响的风险。本文讨论了直接面向消费者检测的医学和非医学应用,还探讨了欧洲各国及组织实施的法律框架。这些法律行为力求通过诸如患者保护、知情同意、医学信息保密以及了解和拒绝了解自身基因易感性的权利等基本原则来管控不断发展的直接面向消费者检测市场。

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