Melbourne Law School, University of Melbourne, 185 Pelham Street, Carlton, 3052, Australia.
Biomedical Ethics Research Group, Murdoch Children's Research Institute, The Royal Children's Hospital, 50 Flemington Rd, Parkville, VIC, 3052, Australia.
Hum Genet. 2022 May;141(5):1059-1068. doi: 10.1007/s00439-021-02293-0. Epub 2021 May 13.
Genomic sequencing (GS) is now well embedded in clinical practice. However, guidelines issued by professional bodies disagree about whether unsolicited findings (UF)-i.e., disease-causing changes found in the DNA unrelated to the reason for testing-should be reported if they are identified inadvertently during data analysis. This extends to a lack of clarity regarding parents' ability to decide about receiving UF for their children. To address this, I use an ethical framework, the Zone of Parental Discretion (ZPD), to consider which UF parents should be allowed to choose (not) to receive and examine how well this assessment aligns with existing professional recommendations. Assessment of guidelines shows recommendations ranging from leaving the decision to the discretion of laboratories through to mandatory reporting for UF for childhood onset, treatable/preventable conditions. The ZPD suggests that parents' decisions should be respected, even where there is no expected benefit, provided that there is not sufficient evidence of serious harm. Using this lens, parents should be able to choose whether or not to know UF for adult-onset conditions in their children, but only insofar as there is insufficient evidence that this knowledge will cause harm or benefit. In contrast, parents should not be allowed to refuse receiving UF for childhood-onset medically actionable conditions. The ZPD is a helpful tool for assessing where it is appropriate to offer parents the choice of receiving UF for their children. This has implications for refinement of policy and laboratory reporting practices, development of consent forms, and genetic counselling practice.
基因组测序(GS)现在已经很好地嵌入了临床实践中。然而,专业机构发布的指南对于在数据分析过程中无意中发现的、与检测原因无关的致病变化(UF)是否应该报告存在分歧。这也导致对于父母是否有能力决定是否接受其子女的 UF 缺乏明确性。为了解决这个问题,我使用了伦理框架——父母自主决定区(ZPD),来考虑哪些 UF 父母应该被允许选择(不)接受,并评估这种评估与现有专业建议的一致性。对指南的评估表明,建议的范围从将决定权留给实验室自主决定到强制性报告儿童发病的、可治疗/可预防的 UF。ZPD 认为,即使没有预期的好处,只要没有足够的证据表明有严重的伤害,也应该尊重父母的决定。从这个角度来看,只要没有足够的证据表明这种知识会造成伤害或获益,父母就应该能够选择是否知道他们成年子女的 UF。相反,不应该允许父母拒绝接受儿童发病的医学上可采取行动的 UF。ZPD 是评估在哪些情况下为父母提供选择接受其子女 UF 的合适性的有用工具。这对完善政策和实验室报告实践、制定同意书以及遗传咨询实践具有影响。