Division of Gastroenterology and Hepatology, Department of Medicine and Surgery, University of Milan Bicocca, Piazza dell'Ateneo Nuovo, 1, 20126 Milan, Italy.
Department of Mathematics, Tor Vergata University of Rome, Via della Ricerca Scientifica 1, Rome, Italy.
Clin Liver Dis. 2018 Aug;22(3):545-561. doi: 10.1016/j.cld.2018.03.006.
The evolving research landscape, with advances in the omics technologies, availability of large-scale patient cohorts, and forthcoming availability of novel drugs in primary biliary cholangitis (PBC), is creating a unique opportunity for developing a precision medicine (PM) program. PM has potential to change the paradigm of management. Diagnostic work-up of PBC patients may include information on genetic variants and molecular signature to define a particular subtype of disease and provide an estimate of treatment response and survival. To reach this point, specific interventions, such as sequencing more genomes, creating bigger biobanks, and linking biological information to health data, are needed.
随着组学技术的进步、大规模患者队列的出现以及原发性胆汁性胆管炎 (PBC) 新型药物的即将问世,研究领域正在不断发展,这为开发精准医学 (PM) 计划创造了独特的机会。PM 有可能改变疾病管理的模式。PBC 患者的诊断工作可能包括有关遗传变异和分子特征的信息,以定义疾病的特定亚型,并提供治疗反应和生存估计。要达到这一点,需要进行特定的干预,例如对更多基因组进行测序、创建更大的生物库以及将生物学信息与健康数据联系起来。