Department of Family Medicine and Primary Health Care, Ghent University, Ghent, Belgium.
Department of Philosophy and Moral Sciences, Bioethics Institute Ghent, Ghent University, Ghent, Belgium.
Eur J Hum Genet. 2018 Oct;26(10):1424-1431. doi: 10.1038/s41431-018-0200-9. Epub 2018 Jul 3.
Incidental or secondary findings (ISFs) in whole exome or whole genome sequencing have been widely debated in recent literature. The American College of Medical Genetics and Genomics' recommendations on diagnostic ISFs have strongly catalyzed the discussion, resulting in worldwide reactions and a variety of international guidelines. This article will outline how propositions on levels of terminology, policy, and underlying values are still internationally criticized and adjusted. Unsolved questions regarding ISFs include a suitable terminology, adequate counseling or informed consent procedures, opt-out possibilities, reporting ISFs to (parents of) minors and values regarding professional duty, patient autonomy, and actionability. These questions will be characterized as intrinsically related and reciprocally maintained and hence, symptomatic, single-level reflections will be marked as ineffective. Instead, a level-integrative approach of the debate that explicitly acknowledges this interaction and considers a balance between internationally significant and case-specific solutions, will be advocated. Second, the inclusion of a patient perspective will be strongly encouraged to complement the professional preponderance in the current debate. The examination of lived patient experiences, a qualitative focus on the subjective meaning of ISFs, and a contextualization of meaning processes will be suggested as specific concretizations. This integrative and inclusive approach aims for a more comprehensive understanding of ISFs, a consideration of all relevant stakeholders' perspective and, ultimately, an effective health-care policy.
全外显子或全基因组测序中的偶然或次要发现(ISFs)在最近的文献中引起了广泛的争论。美国医学遗传学与基因组学学会关于诊断性 ISFs 的建议强烈推动了这一讨论,在全球范围内引发了反响,并产生了各种国际指南。本文将概述在术语、政策和潜在价值观方面的提议如何在国际上仍然受到批评和调整。关于 ISFs 的未解决问题包括合适的术语、充分的咨询或知情同意程序、选择退出的可能性、向(未成年人的)父母报告 ISFs 以及关于专业职责、患者自主权和可操作性的价值观。这些问题将被描述为内在相关和相互维持的,并因此,单一层次的反思将被标记为无效。相反,提倡一种辩论的多层次综合方法,明确承认这种相互作用,并考虑到国际重要性和具体案例解决方案之间的平衡。其次,强烈鼓励纳入患者视角,以补充当前辩论中专业优势的不足。建议对患者的生活体验进行考察,对 ISFs 的主观意义进行定性关注,并对意义过程进行语境化,作为具体的实现方式。这种综合和包容的方法旨在更全面地理解 ISFs,考虑所有相关利益相关者的观点,并最终制定有效的医疗保健政策。