1] Department of Genetics, IIS-Jimenez Diaz Foundation (IIS-FJD), Madrid, Spain [2] Centre for Biomedical Network Research on Rare Diseases CIBERER ISCIII, Valencia, Spain.
Eur J Hum Genet. 2013 Oct;21(10):1054-9. doi: 10.1038/ejhg.2012.297. Epub 2013 Jan 16.
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.
新的大规模测序技术的发展使得全基因组测序(WGS)的时间和成本大大降低成为可能。虽然 WGS 很快将成为常规检测工具,但新的伦理问题也随之浮现。有鉴于此,我们对专家作者发表的关于 ICU 或与 ICU 相关的特定伦理问题的论文,以及在临床环境中对 WGS 分析进行的遗传研究的国际伦理准则进行了系统综述,使用了 Pubmed、Embase 和 Cochrane Library 数据库。此外,还对科学协会和伦理委员会发布的与遗传研究相关的国际伦理准则进行了检索。根据这些文件,确定了 ICU 表格中需要向患者提供的一整套基本信息。分别从数据库搜索和科学协会中选择了 14 份和 7 份文件。发现它们在推荐的 ICU 表格内容方面非常一致。用于诊断目的的 WGS 的 ICU 表格中应包含预测试咨询和所有遗传测试共有的一般信息,但建议添加针对 WGS 特定问题的其他信息,例如对偶然发现的伦理、临床导向回报的计划。此外,还应提前与患者协商同意存储额外的用于未来使用的信息。针对临床环境中的 WGS 研究,提出了有关信息要素、获取 ICU 以及如何处理获得的结果的建议。