Over the past decades, the genome and proteome have been widely explored for biomarker discovery and personalized medicine. However, there is still a large need for improved diagnostics and stratification strategies for a wide range of diseases. Post-translational modification of proteins by glycosylation affects protein structure and function, and glycosylation has been implicated in many prevalent human diseases. Numerous proteins for which the plasma levels are nowadays evaluated in clinical practice are glycoproteins. While the glycosylation of these proteins often changes with disease, their glycosylation status is largely ignored in the clinical setting. Hence, the implementation of glycomic markers in the clinic is still in its infancy. This is for a large part caused by the high complexity of protein glycosylation itself and of the analytical techniques required for their robust quantification. Mass spectrometry-based workflows are particularly suitable for the quantification of glycans and glycoproteins, but still require advances for their transformation from a biomedical research setting to a clinical laboratory. In this review, we describe why and how glycomics is expected to find its role in clinical tests and the status of current mass spectrometry-based methods for clinical glycomics.

在过去的几十年里，基因组和蛋白质组已被广泛探索用于生物标志物发现和个性化医疗。然而，仍然非常需要改进对多种疾病的诊断和分层策略。通过糖基化对蛋白质进行翻译后修饰会影响蛋白质的结构和功能，并且糖基化与许多流行的人类疾病有关。现在在临床实践中评估其血浆水平的许多蛋白质是糖蛋白。虽然这些蛋白质的糖基化常常随着疾病而改变，但它们的糖基化状态在临床环境中却被很大程度上忽略了。因此，糖组标志物在临床上的应用仍处于起步阶段。这在很大程度上是由蛋白质糖基化本身的高度复杂性以及对其进行稳健量化所需的分析技术造成的。基于质谱的工作流程特别适用于聚糖和糖蛋白的定量，但仍需要取得进展才能将其从生物医学研究环境转变为临床实验室。在这篇综述中，我们描述了为什么以及如何期望糖组学在临床测试中发挥作用，以及当前基于质谱的临床糖组学方法的现状。