Boyapati Ray K, Kalla Rahul, Satsangi Jack, Ho Gwo-Tzer
MRC Centre for Inflammation Research, Queens Medical Research Institute, University of Edinburgh, Edinburgh, UK.
Department of Gastroenterology, Monash Health, Clayton, Victoria, Australia.
Am J Gastroenterol. 2016 Dec;111(12):1682-1690. doi: 10.1038/ajg.2016.441. Epub 2016 Sep 27.
The completion of the human genome project in 2003 represented a major scientific landmark, ushering in a new era with hopes and expectations of fresh insights into disease mechanisms and treatments. In inflammatory bowel disease (IBD), many important discoveries soon followed, notably the identification of >200 genetic susceptibility loci and characterization of the gut microbiome. As "big data", driven by advances in technology, becomes increasingly available and affordable, individuals with IBD and clinicians alike yearn for tangible outcomes from the promise of "precision medicine"-precise diagnosis, monitoring, and treatment. Here, we provide a commentary on the prospects and challenges of precision medicine and biomarkers in IBD. We focus on the three key areas where precision IBD will have the most impact: (1) disease susceptibility, activity, and behavior; (2) prediction of drug response and adverse effects; and (3) identification of subphenotypic mechanisms to facilitate drug discovery and selection of new treatments in IBD.
2003年人类基因组计划的完成是一个重要的科学里程碑，开创了一个新时代，人们对疾病机制和治疗方法有了新的认识，并充满希望和期待。在炎症性肠病（IBD）领域，许多重要发现接踵而至，尤其是超过200个遗传易感性位点的识别以及肠道微生物群的特征描述。随着技术进步带来的“大数据”越来越容易获取且成本越来越低，IBD患者和临床医生都渴望从“精准医学”的承诺中获得切实成果——精准诊断、监测和治疗。在此，我们对IBD中精准医学和生物标志物的前景与挑战进行评论。我们聚焦于精准IBD将产生最大影响的三个关键领域：（1）疾病易感性、活动度和行为；（2）药物反应和不良反应的预测；（3）识别亚表型机制以促进IBD药物研发和新治疗方法的选择。
