Chemical analysis by analytical instrumentation has played a major role in disease diagnosis, which is a necessary step for disease treatment. While the treatment process often targets specific organs or compounds, the diagnostic step can occur through various means, including physical or chemical examination. Chemically, the genome may be evaluated to give information about potential genetic outcomes, the transcriptome to provide information about expression actively occurring, the proteome to offer insight on functions causing metabolite expression, or the metabolome to provide a picture of both past and ongoing physiological function in the body. Mass spectrometry (MS) has been elevated among other analytical instrumentation because it can be used to evaluate all four biological machineries of the body. In addition, MS provides enhanced sensitivity, selectivity, versatility, and speed for rapid turnaround time, qualities that are important for instance in clinical procedures involving the diagnosis of a pediatric patient in intensive care or a cancer patient undergoing surgery. In this review, we provide a summary of the use of MS to evaluate biomarkers for newborn screening and cancer diagnosis. As many reviews have recently appeared focusing on MS methods and instrumentation for metabolite analysis, we sought to describe the biological basis for many metabolomic and additional omics biomarkers used in newborn screening and how tandem MS methods have recently been applied, in comparison to traditional methods. Similar comparison is done for cancer screening, with emphasis on emerging MS approaches that allow biological fluids, tissues, and breath to be analyzed for the presence of diagnostic metabolites yielding insight for treatment options based on the understanding of prior and current physiological functions of the body.

中文翻译：

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用于代谢组学分析的质谱分析：在新生儿和癌症筛查中的应用

分析仪器的化学分析在疾病诊断中发挥着重要作用，是疾病治疗的必要步骤。虽然治疗过程通常针对特定器官或化合物，但诊断步骤可以通过各种方式进行，包括物理或化学检查。从化学角度讲，可以评估基因组以提供有关潜在遗传结果的信息，评估转录组以提供有关活跃发生的表达的信息，评估蛋白质组以提供有关导致代谢物表达的功能的见解，或评估代谢组以提供过去和正在进行的生理功能的图片在身体里。质谱 (MS) 在其他分析仪器中得到了提升，因为它可用于评估人体的所有四种生物机制。此外，MS 提供了增强的灵敏度、选择性、多功能性和快速周转时间的速度，这些品质对于例如涉及重症监护中的儿科患者或接受手术的癌症患者的诊断的临床程序非常重要。在这篇综述中，我们总结了使用 MS 来评估新生儿筛查和癌症诊断的生物标志物。由于最近出现的许多评论都集中在代谢物分析的 MS 方法和仪器上，因此我们试图描述新生儿筛查中使用的许多代谢组学和其他组学生物标志物的生物学基础，以及与传统方法相比最近如何应用串联 MS 方法。癌症筛查也进行了类似的比较，重点是新兴的 MS 方法，这些方法允许生物体液、组织、