Robinson William H, Mao Rong
aDivision of Immunology and Rheumatology, CCSR 4135, Stanford bGeriatric Research Education and Clinical Center, Veterans Affairs Palo Alto Healthcare System, Palo Alto, California, USA.
Curr Opin Rheumatol. 2016 Mar;28(2):168-75. doi: 10.1097/BOR.0000000000000250.
The use of biomarkers in rheumatology can help identify disease risk, improve diagnosis and prognosis, target therapy, assess response to treatment, and further our understanding of the underlying pathogenesis of disease. Here, we discuss the recent advances in biomarkers for rheumatic disorders, existing impediments to progress in this field, and the potential of biomarkers to enable precision medicine and thereby transform rheumatology.
Although significant challenges remain, progress continues to be made in biomarker discovery and development for rheumatic diseases. The use of next-generation technologies, including large-scale sequencing, proteomic technologies, metabolomic technologies, mass cytometry, and other single-cell analysis and multianalyte analysis technologies, has yielded a slew of new candidate biomarkers. Nevertheless, these biomarkers still require rigorous validation and have yet to make their way into clinical practice and therapeutic development. This review focuses on advances in the biomarker field in the last 12 months as well as the challenges that remain.
Better biomarkers, ideally mechanistic ones, are needed to guide clinical decision making in rheumatology. Although the use of next-generation techniques for biomarker discovery is making headway, it is imperative that the roadblocks in our search for new biomarkers are overcome to enable identification of biomarkers with greater diagnostic and predictive utility. Identification of biomarkers with robust diagnostic and predictive utility would enable precision medicine in rheumatology.
综述目的：生物标志物在风湿病学中的应用有助于识别疾病风险、改善诊断与预后、指导治疗、评估治疗反应，并加深我们对疾病潜在发病机制的理解。在此，我们讨论风湿性疾病生物标志物的最新进展、该领域进展的现有障碍，以及生物标志物实现精准医学从而变革风湿病学的潜力。
最新发现：尽管仍存在重大挑战，但风湿性疾病生物标志物的发现与开发仍在持续取得进展。使用包括大规模测序、蛋白质组学技术、代谢组学技术、质谱流式细胞术以及其他单细胞分析和多分析物分析技术在内的新一代技术，已产生了大量新的候选生物标志物。然而，这些生物标志物仍需严格验证，尚未进入临床实践和治疗开发阶段。本综述重点关注过去12个月生物标志物领域的进展以及仍然存在的挑战。
总结：需要更好的生物标志物，理想情况下是具有机制性的生物标志物，以指导风湿病学的临床决策。尽管使用新一代技术进行生物标志物发现取得了进展，但必须克服我们在寻找新生物标志物过程中的障碍，以识别具有更高诊断和预测效用的生物标志物。识别具有强大诊断和预测效用的生物标志物将实现风湿病学的精准医学。
