Department of Clinical Genetics, Section of Community Genetics and the EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
Hum Mutat. 2013 Oct;34(10):1322-8. doi: 10.1002/humu.22370. Epub 2013 Jul 16.
High-throughput nucleotide sequencing (often referred to as next-generation sequencing; NGS) is increasingly being chosen as a diagnostic tool for cases of expected but unresolved genetic origin. When exploring a higher number of genetic variants, there is a higher chance of detecting unsolicited findings. The consequential increased need for decisions on disclosure of these unsolicited findings poses a challenge for the informed consent procedure. This article discusses the ethical and practical dilemmas encountered when contemplating informed consent for NGS in diagnostics from a multidisciplinary point of view. By exploring recent similar experiences with unsolicited findings in other settings, an attempt is made to describe what can be learned so far for implementing NGS in standard genetic diagnostics. The article concludes with a set of points to consider in order to guide decision-making on the extent of return of results in relation to the mode of informed consent. We hereby aim to provide a sound basis for developing guidelines for optimizing the informed consent procedure.
高通量核苷酸测序（常被称为下一代测序；NGS）越来越多地被选择作为预期但未解决遗传起源病例的诊断工具。当探索更多的遗传变异时，发现意外发现的可能性就会增加。因此，对于这些意外发现的披露决策的需求增加，对知情同意程序提出了挑战。本文从多学科的角度讨论了在考虑对诊断 NGS 进行知情同意时遇到的伦理和实际困境。通过探讨其他环境中对意外发现的知情同意的最新类似经验，试图描述迄今为止在将 NGS 纳入标准遗传诊断方面可以吸取的经验教训。文章最后提出了一些需要考虑的要点，以指导根据知情同意的模式来决定结果的返还范围。我们旨在为制定优化知情同意程序的指南提供一个合理的基础。
