Office of the Clinical Director, National Human Genome Research Institute.
Office of the Clinical Director, National Human Genome Research Institute; Department of Bioethics, Clinical Center, National Institutes of Health, Bethesda, MD.
Chest. 2014 Feb;145(2):226-230. doi: 10.1378/chest.13-1976.
We have learned a remarkable amount in recent decades about genomics and its potential contributions to human health and medical practice. However, genomic sequencing technology, which is starting to become incorporated into clinical care, also raises ethical challenges. In particular, there has been significant debate about the appropriate management of genomic incidental findings (GIFs), which we define as pathogenic or likely pathogenic test results that are not apparently relevant to the diagnostic indications for which the tests were ordered. Although there is an emerging consensus that clinicians will have at least some obligation to disclose GIFs to patients, the scope of that obligation is unclear. This commentary identifies nuanced issues that clinicians will likely face in the foreseeable future regarding their emerging obligations to disclose clinically actionable GIFs. Will clinicians be expected to look actively for GIFs? Should GIFs for adult-onset disorders be disclosed to children? What obligations will clinicians have to disclose GIFs to family members of deceased patients? What role should informed consent play? There is value to exploring the range of views on these questions at this time, before genomic sequencing has fully matured as a technology, so that clinicians can anticipate how they will respond to the discovery of GIFs once sequencing becomes a more routine part of clinical care. Genomics is ultimately going to play an important role in the practice of pulmonary medicine, and it is important for pulmonologists and other subspecialists to be well informed about what to expect.
在最近几十年,我们已经了解到大量关于基因组学及其对人类健康和医学实践的潜在贡献的知识。然而,基因组测序技术开始被纳入临床护理,这也带来了伦理挑战。特别是,关于如何适当管理基因组偶然发现(genomic incidental findings,GIFs)存在着很大的争议,我们将其定义为与检测所针对的诊断指征没有明显关联的致病性或可能致病性的检测结果。尽管人们已经达成共识,即临床医生至少有义务向患者披露 GIFs,但这一义务的范围尚不清楚。本评论确定了临床医生在可预见的未来,在其向患者披露具有临床可操作性的 GIFs 的新兴义务方面可能会面临的微妙问题。临床医生是否需要主动寻找 GIFs?是否应该向儿童披露成年发病的疾病的 GIFs?临床医生有义务向已故患者的家属披露 GIFs 吗?知情同意应发挥什么作用?在基因组测序作为一项技术完全成熟之前,探讨这些问题的各种观点具有重要意义,以便临床医生能够预测一旦测序成为临床护理的常规部分,他们将如何应对 GIFs 的发现。基因组学最终将在肺病学的实践中发挥重要作用,肺病学家和其他亚专科医生了解他们需要期待什么是很重要的。