Chen Xiao-He, Huang Shuwen, Kerr David
University of Oxford, Oxford, UK.
IARC Sci Publ. 2011(163):303-22.
Biomarkers have been used in clinical medicine for decades. With the rise of genomics and other advances in molecular biology, biomarker studies have entered a whole new era and hold promise for early diagnosis and effective treatment of many diseases. A biomarker is a characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes or pharmacologic responses to a therapeutic intervention (1). They can be classified into five categories based on their application in different disease stages: 1) antecedent biomarkers to identify the risk of developing an illness, 2) screening biomarkers to screen for subclinical disease, 3) diagnostic biomarkers to recognize overt disease, 4) staging biomarkers to categorise disease severity, and 5) prognostic biomarkers to predict future disease course, including recurrence, response to therapy, and monitoring efficacy of therapy (1). Biomarkers can indicate a variety of health or disease characteristics, including the level or type of exposure to an environmental factor, genetic susceptibility, genetic responses to environmental exposures, markers of subclinical or clinical disease, or indicators of response to therapy. This chapter will focus on how these biomarkers have been used in preventive medicine, diagnostics, therapeutics and prognostics, as well as public health and their current status in clinical practice.
生物标志物在临床医学中已应用数十年。随着基因组学的兴起以及分子生物学的其他进展,生物标志物研究已进入一个全新的时代,并有望实现多种疾病的早期诊断和有效治疗。生物标志物是一种可客观测量和评估的特征,可作为正常生物过程、致病过程或对治疗干预的药理反应的指标(1)。根据其在不同疾病阶段的应用,它们可分为五类:1)用于识别患病风险的先行生物标志物;2)用于筛查亚临床疾病的筛查生物标志物;3)用于识别显性疾病的诊断生物标志物;4)用于对疾病严重程度进行分类的分期生物标志物;5)用于预测未来疾病进程(包括复发、对治疗的反应以及监测治疗效果)的预后生物标志物(1)。生物标志物可指示多种健康或疾病特征,包括接触环境因素的水平或类型、遗传易感性、对环境暴露的遗传反应、亚临床或临床疾病的标志物或对治疗反应的指标。本章将重点介绍这些生物标志物如何应用于预防医学、诊断、治疗和预后,以及公共卫生领域及其在临床实践中的现状。