Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Murdoch Children's Research Institute, Melbourne, Australia.
Monash Bioeth Rev. 2021 Dec;39(Suppl 1):117-129. doi: 10.1007/s40592-021-00146-0. Epub 2021 Dec 31.
Although rapid genomic sequencing (RGS) is improving care for critically ill children with rare disease, it also raises important ethical questions that need to be explored as its use becomes more widespread. Two such questions relate to the degree of consent that should be required for RGS to proceed and whether it might ever be appropriate to override parents' decisions not to allow RGS to be performed in their critically ill child. To explore these questions, we first examine the legal frameworks on securing consent for genomic sequencing and how they apply to the specific context of RGS for critically ill children. We then use a tool from clinical ethics, the Zone of Parental Discretion, to explore two case studies and identify under which circumstances it might be appropriate for parental refusal of RGS to be overridden. We argue that RGS may be a context where, in addition to assessing the complexity of the test offered, it is ethically appropriate to consider an effect on patient outcomes when deciding the degree of consent required. We also suggest that there are some contexts where it may be ethically justified to perform RGS, even when it is actively against the wishes of the parents. More work is needed to examine exactly how 'time-sensitive' exceptions to current guidance on consent for genomic sequencing could be formulated and operationalised for RGS for critically ill-children.
虽然快速基因组测序（RGS）正在改善对患有罕见病的重症儿童的护理，但随着其应用的日益广泛，也提出了一些需要探讨的重要伦理问题。其中两个问题涉及到进行 RGS 所需的同意程度，以及在何种情况下，是否可以无视父母不同意对其重症患儿进行 RGS 的决定。为了探讨这些问题，我们首先考察了保障基因组测序同意的法律框架，以及它们如何适用于对重症儿童进行 RGS 的具体情况。然后，我们使用临床伦理工具“父母裁量权区域”来探讨两个案例研究，并确定在何种情况下，父母拒绝进行 RGS 可能被推翻。我们认为，RGS 可能是一种情况，除了评估所提供测试的复杂性外，在决定所需同意程度时，还需要考虑对患者结果的影响，这在伦理上是合适的。我们还认为，在某些情况下，即使这与父母的意愿相违背，从伦理角度来看，进行 RGS 可能是合理的。需要进一步研究如何为重症儿童的 RGS 制定并实施当前关于基因组测序同意的“时间敏感”例外情况。
