Nephrology and Endocrinology Divisions, Massachusetts General Hospital, Boston, MA.
Am J Kidney Dis. 2018 Jul;72(1):129-135. doi: 10.1053/j.ajkd.2017.12.008. Epub 2018 Feb 23.
Advances in technology and computing now permit the high-throughput analysis of multiple domains of biological information, including the genome, transcriptome, proteome, and metabolome. These omics approaches, particularly comprehensive analysis of the genome, have catalyzed major discoveries in science and medicine, including in nephrology. However, they also generate large complex data sets that can be difficult to synthesize from a clinical perspective. This article seeks to provide an overview that makes omics technologies relevant to the practicing nephrologist, framing these tools as an extension of how we approach patient care in the clinic. More specifically, omics technologies reinforce the impact that genetic mutations can have on a range of kidney disorders, expand the catalogue of uremic molecules that accumulate in blood with kidney failure, enhance our ability to scrutinize urine beyond urinalysis for insight on renal pathology, and enable more extensive characterization of kidney tissue when a biopsy is performed. Although assay methodologies vary widely, all omics technologies share a common conceptual framework that embraces unbiased discovery at the molecular level. Ultimately, the application of these technologies seeks to elucidate a more mechanistic and individualized approach to the diagnosis and treatment of human disease.
技术和计算的进步现在允许对多个生物学信息领域进行高通量分析,包括基因组、转录组、蛋白质组和代谢组。这些组学方法,特别是对基因组的全面分析,推动了科学和医学的重大发现,包括肾脏病学。然而,它们也产生了大量复杂的数据集,从临床角度来看,这些数据集很难综合。本文旨在提供一个概述,使组学技术与实践肾脏病学家相关联,将这些工具视为我们在临床中治疗患者的方式的延伸。更具体地说,组学技术增强了基因突变对一系列肾脏疾病的影响,扩大了随着肾衰竭在血液中积累的尿毒症分子的目录,增强了我们超越尿液分析来深入研究肾脏病理的能力,并在进行活检时能够更广泛地描述肾脏组织。尽管分析方法差异很大,但所有组学技术都具有共同的概念框架,即从分子水平上进行无偏见的发现。最终,这些技术的应用旨在阐明更具机制性和个体化的方法来诊断和治疗人类疾病。