Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process
Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process
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DOI：
10.1038/ejhg.2012.297
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发表时间：
2013-10-01
影响因子：
5.2
通讯作者：
Dal-Re, Rafael
中科院分区：
文献类型：
--
作者：
Ayuso, Carmen;Millan, Jose M.;Dal-Re, Rafael
新的大规模测序技术的发展现在已经可以显着减少全基因组测序（WGS）的时间和成本。尽管WGS很快将成为常规测试工具，但新的道德问题已经浮出水面。鉴于这些问题，使用Pubmed、Embase和科克伦图书馆数据库，对专家作者发表的关于IC或与临床环境中用于WGS分析的IC相关的特定伦理问题的论文进行了系统性综述。此外，还对科学协会和伦理委员会发表的遗传研究国际伦理准则进行了检索。根据这些文件，确定了在IC表中向患者提供的最少信息集。分别从数据库搜索和科学学会中选择了14份和7份文件。在推荐的IC表格内容方面，发现它们之间的一致性非常高。出于诊断目的，WGS的IC表中应包括所有基因检测通用的检测前咨询和一般信息，但建议提供解决WGS具体问题的额外信息，例如附带结果的伦理、临床导向返回计划。此外，还应事先与患者商定存储额外信息以供将来使用。建议在临床环境中的WGS研究有关的信息元素和获得IC的过程，以及如何处理所获得的结果提出。
The development of new massive sequencing techniques has now made it possible to significantly reduce the time and costs of whole-genome sequencing (WGS). Although WGS will soon become a routine testing tool, new ethical issues have surfaced. In light of these concerns, a systematic review of papers published by expert authors on IC or specific ethical issues related to IC for WGS analysis in the clinical setting has been conducted using the Pubmed, Embase and Cochrane Library databases. Additionally, a search was conducted for international ethical guidelines for genetic studies published by scientific societies and ethical boards. Based on these documents, a minimum set of information to be provided to patients in the IC form was determined. Fourteen and seven documents from the database search and from scientific societies, respectively, were selected. A very high level of consistency between them was found regarding the recommended IC form content. Pre-test counselling and general information common to all genetic tests should be included in the IC form for WGS for diagnostic purposes, but additional information addressing specific issues on WGS are proposed, such as a plan for the ethical, clinically oriented return of incidental findings. Moreover, storage of additional information for future use should also be agreed upon with the patient in advance. Recommendations for WGS studies in the clinical setting concerning both the elements of information and the process of obtaining the IC as well as how to handle the results obtained are proposed.