表型组（phenome）是指某一生物可观测的所有性状特征；表型组学（phenomics）可视为系统的研究某一生 物或细胞在不同环境条件下所有表型（从基因、蛋白质到代谢各尺度）的学科，其主要研究的是某一生物的物理和化学 性状随着基因突变及环境改变而变化的规律。1996 年，Steven A. Garan 首次提出了表型组学这一概念。2005 年，比利时 CropDesign 公司的Christophe 等发表具有里程碑意义的论文，详细阐述了称之为“性状工厂”（trait mill）的可大规模自动 化分析全生育期植物表型的技术设施。2014 年，英国帝国理工学院的Zoltan Takats 等人在对恶性肿瘤表型组与代谢组研究 中报告了一种全新技术，称之为“iKnife”。核磁共振和质谱是临床表型组学研究中最为常用的方法。此外，紫外吸收、高 效液相色谱法、气相色谱荧光散射等技术手段也逐渐被引入该领域研究。历经几十年的发展，现今表型组学已在各个领域 获得了重大突破，尤其是在医学领域已经从疾病的研究走向了临床应用，包括了外科、肿瘤、营养等专业学科。本文主要 就表型组学概念的提出及发展，到医学临床的应用进行概述。

A phenome is the whole phenotypes expressed by an organism. Phenomics is a systematic study about the whole phenomes of organisms or cells in different environments, especially concern the laws of changing of physical and chemical character. In 1996, Steven A. Garan, director of the aging research centre (ARC), proposed the concept of phenomics at a guest lecture at the University of Waterloo. In 2005, Christophe published a significant article, in which he elaborated the technical facility by crop design company in Belgium, so called Trait Mill, can be used to analyze large-scale plant phenotypes in the whole growth period automatically on a large scale. In 2014, Zoltan Takats, a professor in British imperial college, reported the iKnife in the study of the tumor phenome and metabolomics, which is a new technology for surgeons identify tumor. Nuclear magnetic resonace and mass spectrometry is the most common method in clinical phenomics. In addition, the ultraviolet absorption, high performance liquid chromatography high performance liquid chromatography, gas chromatography technical means such as fluorescent scattering also gradually be introduced in this field of research. After decades of development, phenomics have got many significant breakthroughs, which seem to be promising for wide clinical application. This paper is to summarize the concept, development and clinical application of phenomics.