National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Lancet. 2019 Aug 10;394(10197):533-540. doi: 10.1016/S0140-6736(19)31274-7. Epub 2019 Aug 5.
One of the primary goals of genomic medicine is to improve diagnosis through identification of genomic conditions, which could improve clinical management, prevent complications, and promote health. We explore how genomic medicine is being used to obtain molecular diagnoses for patients with previously undiagnosed diseases in prenatal, paediatric, and adult clinical settings. We focus on the role of clinical genomic sequencing (exome and genome) in aiding patients with conditions that are undiagnosed even after extensive clinical evaluation and testing. In particular, we explore the impact of combining genomic and phenotypic data and integrating multiple data types to improve diagnoses for patients with undiagnosed diseases, and we discuss how these genomic sequencing diagnoses could change clinical management.
基因组医学的主要目标之一是通过鉴定基因组状况来改善诊断，这可以改善临床管理、预防并发症和促进健康。我们探讨了基因组医学如何用于为产前、儿科和成人临床环境中以前未确诊的疾病患者获得分子诊断。我们专注于临床基因组测序（外显子组和基因组）在帮助即使经过广泛的临床评估和测试后仍未确诊的患者的作用。特别是，我们探讨了结合基因组和表型数据以及整合多种数据类型来提高未确诊疾病患者诊断的影响，我们还讨论了这些基因组测序诊断如何改变临床管理。
