Rahimzadeh Vasiliki, Avard Denise, Sénécal Karine, Knoppers Bartha Maria, Sinnett Daniel
Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada.
Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
Eur J Hum Genet. 2015 Mar;23(3):279-84. doi: 10.1038/ejhg.2014.108. Epub 2014 Jun 11.
Progress in understanding childhood disease using next-generation sequencing (NGS) portends vast improvements in the nature and quality of patient care. However, ethical questions surrounding the disclosure of incidental findings (IFs) persist, as NGS and other novel genomic technologies become the preferred tool for clinical genetic testing. Thus, the need for comprehensive management plans and multidisciplinary discussion on the return of IFs in pediatric research has never been more immediate. The aim of this study is to explore the views of investigators concerning the return of IFs in the pediatric oncology research context. Our findings reveal at least four contextual themes underlying the ethics of when, and how, IFs could be disclosed to participants and their families: clinical significance of the result, respect for individual, scope of professional responsibilities, and implications for the healthcare/research system. Moreover, the study proposes two action items toward anticipatory governance of IF in genetic research with children. The need to recognize the multiplicity of contextual factors in determining IF disclosure practices, particularly as NGS increasingly becomes a centerpiece in genetic research broadly, is heightened when children are involved. Sober thought should be given to the possibility of discovering IF, and to proactive discussions about disclosure considering the realities of young participants, their families, and the investigators who recruit them.
利用下一代测序（NGS）在理解儿童疾病方面取得的进展预示着患者护理的性质和质量将得到极大改善。然而，随着NGS和其他新型基因组技术成为临床基因检测的首选工具，围绕偶然发现（IFs）披露的伦理问题依然存在。因此，制定全面的管理计划并就儿科研究中IFs的反馈进行多学科讨论的需求从未如此迫切。本研究的目的是探讨研究人员对儿科肿瘤学研究背景下IFs反馈的看法。我们的研究结果揭示了至少四个与IFs何时以及如何向参与者及其家属披露的伦理相关的背景主题：结果的临床意义、对个体的尊重、专业责任范围以及对医疗保健/研究系统的影响。此外，该研究针对儿童基因研究中IFs的预期治理提出了两项行动建议。当涉及儿童时，认识到在确定IFs披露实践中背景因素的多样性的必要性就更加突出了，尤其是随着NGS越来越成为广泛的基因研究的核心。应该认真考虑发现IFs的可能性，并根据年轻参与者、他们的家庭以及招募他们的研究人员的实际情况，积极开展关于披露的讨论。
