临床基因组测序同意书：来自临床测序探索性研究联盟的考虑因素。
Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.
机构信息
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital & Research Institute, Seattle, WA 98101, USA.
出版信息
Per Med. 2019 Jul;16(4):325-333. doi: 10.2217/pme-2018-0076. Epub 2019 Jul 17.
Abstract
Implementing genome and exome sequencing in clinical practice presents challenges, including obtaining meaningful informed consent. Consent may be challenging due to test limitations such as uncertainties associated with test results and interpretation, complexity created by the potential for additional findings and high patient expectations. We drew on the experiences of research teams within the Clinical Sequencing Exploratory Research (CSER1) Consortium on informed consent for clinical genome and exome sequencing (CGES) to negotiate consensus considerations. We present six considerations for clinicians and 12 key points to communicate as they support patients in deciding whether to undergo CGES. These considerations and key points provide a helpful starting point for informed consent to CGES, grounded in the Clinical Sequencing Exploratory Research (CSER1) experience.
摘要
在临床实践中实施基因组和外显子组测序带来了挑战，包括获得有意义的知情同意。由于测试的局限性，例如与测试结果和解释相关的不确定性、潜在的额外发现带来的复杂性以及患者的高期望，同意可能具有挑战性。我们借鉴了临床测序探索性研究（CSER1）联盟内的研究团队在临床基因组和外显子组测序（CGES）知情同意方面的经验，以协商共识考虑因素。我们为临床医生提出了六个考虑因素，并提出了 12 个要点进行沟通，以支持患者决定是否进行 CGES。这些考虑因素和要点为 CGES 的知情同意提供了一个有用的起点，其基础是临床测序探索性研究（CSER1）的经验。
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