Division of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, 1150 St. Nicholas Ave, Room 413, New York, NY, 10032, USA.
J Nephrol. 2018 Feb;31(1):47-60. doi: 10.1007/s40620-017-0448-0. Epub 2017 Oct 17.
The expansion of genomic medicine is furthering our understanding of many human diseases. This is well illustrated in the field of nephrology, through the characterization, discovery, and growing insight into various renal diseases through use of Next Generation Sequencing (NGS) technologies. This review will provide an overview of the diagnostic opportunities of using genetic testing in the clinical setting by describing notable discoveries regarding inherited forms of renal disease that have advanced the field and by highlighting some of the potential benefits of establishing a molecular diagnosis in a clinical practice. In addition, it will discuss some of the challenges associated with the expansion of genetic testing into the clinical setting, including clinical variant interpretation and return of genetic results.
基因组医学的发展进一步加深了我们对许多人类疾病的认识。这在肾脏病学领域得到了很好的体现,通过使用下一代测序(NGS)技术,对各种肾脏疾病进行了特征描述、发现和深入了解。本文通过描述遗传性肾脏疾病的显著发现,阐述了遗传检测在临床中的诊断机会,这些发现推动了该领域的发展,并强调了在临床实践中建立分子诊断的一些潜在益处,从而为临床环境中使用基因检测提供了一个概述。此外,本文还讨论了将基因检测扩展到临床环境中所面临的一些挑战,包括临床变异解释和遗传结果的回报。