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基于代谢组学的检测面临的挑战、代谢组学分析揭示的生物标志物,以及代谢组学在精准医学中应用的前景。

Challenges in Metabolomics-Based Tests, Biomarkers Revealed by Metabolomic Analysis, and the Promise of the Application of Metabolomics in Precision Medicine.

机构信息

Dipartimento di Farmacia, University of Naples Federico II, 80131 Naples, Italy.

CEINGE-Biotecnologie Avanzate, 80131 Naples, Italy.

出版信息

Int J Mol Sci. 2022 May 6;23(9):5213. doi: 10.3390/ijms23095213.

Abstract

Metabolomics helps identify metabolites to characterize/refine perturbations of biological pathways in living organisms. Pre-analytical, analytical, and post-analytical limitations that have hampered a wide implementation of metabolomics have been addressed. Several potential biomarkers originating from current targeted metabolomics-based approaches have been discovered. Precision medicine argues for algorithms to classify individuals based on susceptibility to disease, and/or by response to specific treatments. It also argues for a prevention-based health system. Because of its ability to explore gene-environment interactions, metabolomics is expected to be critical to personalize diagnosis and treatment. Stringent guidelines have been applied from the very beginning to design studies to acquire the information currently employed in precision medicine and precision prevention approaches. Large, prospective, expensive and time-consuming studies are now mandatory to validate old, and discover new, metabolomics-based biomarkers with high chances of translation into precision medicine. Metabolites from studies on saliva, sweat, breath, semen, feces, amniotic, cerebrospinal, and broncho-alveolar fluid are predicted to be needed to refine information from plasma and serum metabolome. In addition, a multi-omics data analysis system is predicted to be needed for -based precision medicine approaches. -based approaches for the progress of precision medicine and prevention are expected to raise ethical issues.

摘要

代谢组学有助于确定代谢物,以描述/完善生物体内生物途径的干扰。目前已经解决了阻碍代谢组学广泛应用的分析前、分析中和分析后限制因素。已经发现了一些源自当前基于靶向代谢组学的方法的潜在生物标志物。精准医学主张根据疾病易感性和/或对特定治疗的反应来对个体进行分类的算法。它还主张建立基于预防的医疗体系。由于其探索基因-环境相互作用的能力,代谢组学有望成为个性化诊断和治疗的关键。从一开始,就严格遵循了设计研究的准则,以获取目前用于精准医学和精准预防方法的信息。现在必须进行大型、前瞻性、昂贵且耗时的研究,以验证旧的、发现新的、具有高度转化为精准医学可能性的基于代谢组学的生物标志物。预测需要来自唾液、汗液、呼吸、精液、粪便、羊水、脑脊液和支气管肺泡液研究的代谢物,以完善来自血浆和血清代谢组的信息。此外,预测需要基于多组学数据分析系统的精准医学方法。基于精准医学和预防的方法的进展预计会引发伦理问题。

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