Moret Celine, Mauron Alex, Fokstuen Siv, Makrythanasis Periklis, Hurst Samia A
Institute for Ethics, History, and the Humanities, University of Geneva, Geneva, Switzerland.
Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland.
J Med Ethics. 2017 May;43(5):346-349. doi: 10.1136/medethics-2016-103677. Epub 2016 Dec 30.
Next-generation sequencing is increasingly used in clinical practice for the diagnosis of Mendelian diseases. Because of the high likelihood of secondary findings associated with this technique, the process of informing patients is beset with new challenges. One of them is regarding the type of secondary findings that ought to be disclosed to patients. The aim of this research is to propose a practical implementation of the notion of actionability, a common criteria justifying the disclosure of secondary findings but whose interpretation varies greatly among professionals. We distinguish three types of actionability corresponding to (1) well-established medical actions, (2) patient-initiated health-related actions and (3) life-plan decisions. We argue that actionability depends on the characteristics of the mutation or gene and on the values of patients. In discussing the return of secondary findings, it is important that the physician tries to get an impression of the specific situation and values of patients. Regarding variants of uncertain clinical significance in actionable genes, we found that different understandings of autonomy lead to different conclusions and that, for some of them, it may be legitimate to refrain from returning uncertain information.
下一代测序技术在孟德尔疾病的临床诊断中应用越来越广泛。由于该技术存在产生次要发现的高可能性，告知患者的过程面临着新的挑战。其中之一是关于应向患者披露的次要发现的类型。本研究的目的是提出一种切实可行的可操作性概念实施方案，这是一个证明披露次要发现合理的通用标准，但其在专业人员中的解释差异很大。我们区分了三种可操作性类型，分别对应于（1）既定的医疗行为，（2）患者发起的与健康相关的行为，以及（3）生活规划决策。我们认为可操作性取决于突变或基因的特征以及患者的价值观。在讨论次要发现的反馈时，医生努力了解患者的具体情况和价值观非常重要。关于可操作基因中临床意义不确定的变异，我们发现对自主性的不同理解会导致不同的结论，并且对于其中一些变异，不反馈不确定信息可能是合理的。
