Melbourne Law School, University of Melbourne, Parkville, Australia.
Biomedical Ethics Research Group, Murdoch Children's Research Institute, Parkville, Australia.
AJOB Empir Bioeth. 2021 Jan-Mar;12(1):12-23. doi: 10.1080/23294515.2020.1823906. Epub 2020 Oct 5.
While integrating genomic sequencing into clinical care carries clear medical benefits, it also raises difficult ethical questions. Compared to traditional sequencing technologies, genomic sequencing and analysis is more likely to identify unsolicited findings (UF) and variants that cannot be classified as benign or disease-causing (variants of uncertain significance; VUS). UF and VUS pose new challenges for genetic health professionals (GHPs) who are obtaining informed consent for genomic sequencing from patients.
We conducted semi-structured interviews with 31 GHPs across Europe, Australia and Canada to identify some of these challenges.
Our results show that GHPs find it difficult to prepare patients to receive results because a vast amount of information is required to fully inform patients about VUS and UF. GHPs also struggle to engage patients - many of whom may be focused on ending their 'diagnostic odyssey' - in the informed consent process in a meaningful way. Thus, some questioned how 'informed' patients actually are when they agree to undergo clinical genomic sequencing.
These findings suggest a tension remains between sufficient information provision at the risk of overwhelming the patient and imparting less information at the risk of uninformed decision-making. We suggest that a shift away from 'fully informed consent' toward an approach aimed at realizing, as far as possible, the underlying goals that informed consent is meant to promote.
将基因组测序整合到临床护理中具有明显的医学益处，但也引发了一些困难的伦理问题。与传统的测序技术相比，基因组测序和分析更有可能识别出未经请求的发现（UF）和无法归类为良性或致病的变异（意义未明的变异；VUS）。UF 和 VUS 给正在从患者那里获得基因组测序知情同意的遗传健康专业人员（GHPs）带来了新的挑战。
我们在欧洲、澳大利亚和加拿大进行了 31 名 GHPs 的半结构化访谈，以确定其中的一些挑战。
我们的研究结果表明，GHPs 发现很难让患者准备好接受结果，因为需要大量的信息才能让患者充分了解 VUS 和 UF。GHPs 也难以让患者参与知情同意过程，因为许多患者可能专注于结束他们的“诊断探索之旅”。因此，一些人质疑当患者同意进行临床基因组测序时，他们实际上是否“知情”。
这些发现表明，在充分提供信息以避免患者不知所措和提供较少信息以避免不知情决策之间仍然存在紧张关系。我们建议，从“充分知情同意”转向旨在尽可能实现知情同意旨在促进的基本目标的方法。
