Personal genome testing: Test characteristics to clarify the discourse on ethical, legal and societal issues
Personal genome testing: Test characteristics to clarify the discourse on ethical, legal and societal issues
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DOI：
10.1186/1472-6939-12-11
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发表时间：
2011-06-14
影响因子：
2.7
通讯作者：
Janssens, A. Cecile J. W.
中科院分区：
文献类型：
--
作者：
Bunnik, Eline M.;Schermer, Maartje H. N.;Janssens, A. Cecile J. W.
背景：随着遗传学技术的发展，基因检测的实践变得更加多样化：许多不同类型的检测在不同的环境中为各种目的向公众提供。这种多样化与围绕基因检测的伦理、法律和社会问题（ELSI）的讨论有关，这些问题必须发展以涵盖这些差异。一个重要的发展是基于遗传谱的个人基因组检测的兴起：同时检测多种遗传变异以预测常见的多因素疾病。目前，越来越多的公司直接向消费者提供个人基因组检测，并引发了需要澄清的elsi讨论。本文提出了一个系统的方法，以elsi评估个人基因组检测的多因素疾病沿其测试特点。讨论：本文论述了个人基因组检测的四个检测特点：非针对性检测、分析效度高、临床效度低和临床应用问题。这些特征提出了它们自己特定的ELSI，例如：非靶向基因分析给信息提供和知情同意带来了严重问题。因此，关于必要信息的数量和质量的问题，以及关于提供信息的道德责任的问题，成为elsi讨论个人基因组测试的中心主题。此外，目前基因图谱的临床有效性水平较低，引发了有关社会风险和监管要求的问题，同时，它导致传统的临床遗传学elci问题，如心理和健康风险、歧视和污名化，失去了部分相关性。此外，临床效用的经典概念受到“个人效用”的新概念的挑战。总结：对于多因素疾病个人基因组检测ELSI的任何有价值的论述来说，考虑检测特征是必不可少的。该测试的四个关键特征——靶向/非靶向测试、分析有效性、临床有效性和临床实用性——共同决定了ELSI对特定测试的适用性和相关性。本文确定并讨论了elsi关于个人基因组测试辩论的四个兴趣领域：信息问题、风险、监管问题和个人效用的概念。
Background: As genetics technology proceeds, practices of genetic testing have become more heterogeneous: many different types of tests are finding their way to the public in different settings and for a variety of purposes. This diversification is relevant to the discourse on ethical, legal and societal issues (ELSI) surrounding genetic testing, which must evolve to encompass these differences. One important development is the rise of personal genome testing on the basis of genetic profiling: the testing of multiple genetic variants simultaneously for the prediction of common multifactorial diseases. Currently, an increasing number of companies are offering personal genome tests directly to consumers and are spurring ELSI-discussions, which stand in need of clarification. This paper presents a systematic approach to the ELSI-evaluation of personal genome testing for multifactorial diseases along the lines of its test characteristics.Discussion: This paper addresses four test characteristics of personal genome testing: its being a non-targeted type of testing, its high analytical validity, low clinical validity and problematic clinical utility. These characteristics raise their own specific ELSI, for example: non-targeted genetic profiling poses serious problems for information provision and informed consent. Questions about the quantity and quality of the necessary information, as well as about moral responsibilities with regard to the provision of information are therefore becoming central themes within ELSI-discussions of personal genome testing. Further, the current low level of clinical validity of genetic profiles raises questions concerning societal risks and regulatory requirements, whereas simultaneously it causes traditional ELSI-issues of clinical genetics, such as psychological and health risks, discrimination, and stigmatization, to lose part of their relevance. Also, classic notions of clinical utility are challenged by the newer notion of 'personal utility.'Summary: Consideration of test characteristics is essential to any valuable discourse on the ELSI of personal genome testing for multifactorial diseases. Four key characteristics of the test - targeted/non-targeted testing, analytical validity, clinical validity and clinical utility - together determine the applicability and the relevance of ELSI to specific tests. The paper identifies and discusses four areas of interest for the ELSI-debate on personal genome testing: informational problems, risks, regulatory issues, and the notion of personal utility.