Metabolomics, which is the metabolites profiling in biological matrices, is a key tool for biomarker discovery and personalized medicine and has great potential to elucidate the ultimate product of the genomic processes. Over the last decade, metabolomics studies have identified several relevant biomarkers involved in complex clinical phenotypes using diverse biological systems. Most diseases result in signature metabolic profiles that reflect the sums of external and internal cellular activities. Metabolomics has a major role in clinical practice as it represents >95% of the workload in clinical laboratories worldwide. Many of these metabolites require different analytical platforms, such as Nuclear Magnetic Resonance (NMR), Mass Spectrometry (MS), and Ultra Performance Liquid Chromatography (UPLC), while many clinically relevant metabolites are still not routinely amenable to detection using currently available assays. Combining metabolomics with genomics, transcriptomics, and proteomics studies will result in a significantly improved understanding of the disease mechanisms and the pathophysiology of the target clinical phenotype. This comprehensive approach will represent a major step forward toward providing precision medical care, in which individual is accounted for variability in genes, environment, and personal lifestyle. In this review, we compare and evaluate the metabolomics strategies and studies that focus on the discovery of biomarkers that have “personalized” diagnostic, prognostic, and therapeutic value, validated for monitoring disease progression and responses to various management regimens.

中文翻译：

---

个性化医学的代谢组学。

代谢组学是生物基质中的代谢物谱，是生物标记物发现和个性化医学的关键工具，在阐明基因组过程的最终产物方面具有巨大潜力。在过去的十年中，代谢组学研究已经确定了使用多种生物系统参与复杂临床表型的几种相关生物标志物。大多数疾病会导致特征性的代谢谱，反映出外部和内部细胞活动的总和。代谢组学在临床实践中起着重要作用，因为它占全球临床实验室工作量的95％以上。这些代谢物中的许多需要不同的分析平台，例如核磁共振（NMR），质谱（MS）和超高效液相色谱（UPLC），尽管许多临床相关的代谢物仍不能常规地使用当前可用的检测方法进行检测。将代谢组学与基因组学，转录组学和蛋白质组学研究相结合，将大大改善对目标临床表型的疾病机制和病理生理学的了解。这种全面的方法将代表朝着提供精确医疗服务迈出的重要一步，在这种医疗中，个人要负责基因，环境和个人生活方式的变异。在这篇评论中，我们比较并评估了代谢组学策略和研究，这些研究和研究侧重于发现具有“个性化”诊断，预后和治疗价值的生物标志物，