Mackley Michael P, Fletcher Benjamin, Parker Michael, Watkins Hugh, Ormondroyd Elizabeth
Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, UK.
Genet Med. 2017 Mar;19(3):283-293. doi: 10.1038/gim.2016.109. Epub 2016 Sep 1.
PURPOSE: As whole-exome sequencing (WES) and whole-genome sequencing (WGS) move into routine clinical practice, it is timely to review data that might inform the debate regarding secondary findings (SF) and the development of policies that maximize participant benefit. METHODS: We systematically searched for qualitative and quantitative studies that explored stakeholder views on SF in WES/WGS. Framework analysis was undertaken to identify major themes. RESULTS: Forty-four articles reporting the views of 11,566 stakeholders were included. Stakeholders were broadly supportive of returning "actionable" findings, but definitions of actionability varied. Stakeholder views on SF disclosure exist along a spectrum: potential WES/WGS recipients' views were largely influenced by a sense of rights, whereas views of genomics professionals were informed by a sense of professional responsibility. Experience with genetic illness and testing resulted in greater caution about SF, suggesting that truly informed decisions require an understanding of the implications and limitations of WES/WGS and possible findings. CONCLUSION: This review suggests that bidirectional interaction during consent might best facilitate informed decision making about SF and that dynamic forms of consent, allowing for changing preferences, should be considered. Research exploring views from wider perspectives and from recipients who have received SF is critical if evidence-based policies are to be achieved.Genet Med 19 3, 283-293.
目的:随着全外显子组测序(WES)和全基因组测序(WGS)进入常规临床实践,及时回顾相关数据,这些数据可能为关于次要发现(SF)的辩论以及制定使参与者受益最大化的政策提供信息。 方法:我们系统检索了探索利益相关者对WES/WGS中SF观点的定性和定量研究。采用框架分析来确定主要主题。 结果:纳入了44篇报告11566名利益相关者观点的文章。利益相关者普遍支持返回“可采取行动的”发现,但可采取行动性的定义各不相同。利益相关者对SF披露的观点存在差异:潜在的WES/WGS接受者的观点很大程度上受权利感影响,而基因组学专业人员的观点则受职业责任感影响。有遗传疾病和检测经历的人对SF更为谨慎,这表明真正明智的决策需要了解WES/WGS及其可能发现的影响和局限性。 结论:本综述表明,在知情同意过程中的双向互动可能最有助于就SF做出明智决策,并且应考虑允许偏好改变的动态知情同意形式。如果要制定基于证据的政策,从更广泛的角度以及已接受SF的接受者那里探索观点的研究至关重要。《基因医学》19卷3期,283 - 293页。
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