Although Next Generation Sequencing (NGS) has increased our ability to test and diagnose, its results are often not clear-cut and require a complex interpretation and negotiation process by both healthcare professionals and patients involved. In this paper, we explore how diagnoses identified through NGS are socially shaped under influence of the broader social context. Using an analytical framework stemming from the sociology of health and illness and science and technology studies, with a focus on the construction of diagnosis and the role of uncertainty in medicine, we analyze the existing corpus of literature on NGS diagnostic practices. We show how in this early implementation phase of NGS, in which standardization efforts are not yet solidified, the boundary struggles around diagnoses obtained through NGS are particularly visible. We discuss the different steps in the diagnosis shaping process and what it subsequently entails to give and a receive a diagnosis using NGS.

尽管下一代测序（NGS）增强了我们测试和诊断的能力，但其结果通常不明确，需要医疗保健专业人员和所涉患者进行复杂的解释和协商过程。在本文中，我们探讨了在更广泛的社会环境的影响下，如何通过NGS识别出的诊断在社会上受到影响。我们使用来自健康与疾病社会学和科学与技术研究的分析框架，着重于诊断的构建和不确定性在医学中的作用，我们分析了有关NGS诊断实践的现有文献集。我们展示了在NGS的早期实施阶段（标准化工作尚未巩固）如何特别明显地体现了围绕通过NGS获得的诊断的边界斗争。