ABSTACT

Introduction: Metabolomics, one of the most high-promising technologies, is the most recently developed post-genomics discipline for developing new diagnostic tests for future implementation in medicine. More than 2,000 scientific papers, using mass spectrometry-based (MS-based) metabolomics analysis for human disease diagnostics, have been published during the past two decades, and almost every metabolomics study shows high diagnostic accuracy. However, despite the great results and promising perspectives, there are currently no diagnostic tests based on metabolomics that have been approved and introduced into clinics.

Areas covered: In this report, the advantages and challenges of MS-based metabolomics are discussed with a focus on its developing role in diagnostics, and the current trends in implementing metabolomics diagnostics in the clinic.

Expert opinion: In the development of new clinical diagnostics tests, MS-based metabolomics has potential as both a preliminary discovery base for routine testing and a multi-test prototype, which is hoped to be introduced into clinical practice in the near future. A laboratory-developed test (LDT) is one possible way that multi-testing could be developed.

摘要

简介：代谢组学是最有前途的技术之一，是最近发展起来的后基因组学学科，用于开发新的诊断测试以用于未来的医学应用。在过去的 20 年中，已经发表了 2,000 多篇使用基于质谱 (MS) 的代谢组学分析进行人类疾病诊断的科学论文，并且几乎每项代谢组学研究都显示出很高的诊断准确性。然而，尽管取得了巨大的成果和前景，但目前还没有基于代谢组学的诊断测试获得批准并引入临床。

涵盖的领域：在本报告中，讨论了基于 MS 的代谢组学的优势和挑战，重点是其在诊断中的发展作用，以及在临床中实施代谢组学诊断的当前趋势。

专家意见：在新的临床诊断测试的开发中，基于MS的代谢组学具有作为常规测试的初步发现基础和多测试原型的潜力，有望在不久的将来引入临床实践。实验室开发的测试 (LDT) 是开发多重测试的一种可能方式。