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炎症性肠病中预测反应的发病机制与精准医学:进展与未来方向

Pathogenesis and precision medicine for predicting response in inflammatory bowel disease: advances and future directions.

作者信息

Little Robert D, Jayawardana Thisun, Koentgen Sabrina, Zhang Fan, Connor Susan J, Boussioutas Alex, Ward Mark G, Gibson Peter R, Sparrow Miles P, Hold Georgina L

机构信息

Department of Gastroenterology, Alfred Health, Melbourne, Victoria, Australia.

Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria, Australia.

出版信息

eGastroenterology. 2024 Jan 18;2(1):e100006. doi: 10.1136/egastro-2023-100006. eCollection 2024 Jan.

Abstract

The pathogenesis of inflammatory bowel disease (IBD) is complex and multifactorial. Undertreated disease has substantial individual and societal consequences. Current patient classification and subsequent positioning of IBD therapy are based on crude, readily accessible clinical data. These broad parameters are unlikely to reflect underlying molecular profiles and may account for the observed heterogeneity in treatment response. Precision medicine offers identification and integration of molecular profiles into clinical decision-making. Despite several promising scientific and technological advances, the pathogenesis and targetable molecular drivers of IBD remain incompletely understood. Precision medicine therefore remains aspirational. This comprehensive narrative review describes our current understanding of IBD pathophysiology, highlights preliminary genetic, immunological and microbial predictors of treatment response and outlines the role of 'big data' and machine learning in the path towards precision medicine.

摘要

炎症性肠病(IBD)的发病机制复杂且具有多因素性。未得到治疗的疾病会给个人和社会带来重大后果。目前IBD患者的分类以及后续治疗方案的确定是基于粗略且易于获取的临床数据。这些宽泛的参数不太可能反映潜在的分子特征,可能也是观察到的治疗反应存在异质性的原因。精准医学提供了将分子特征识别并整合到临床决策中的方法。尽管在科学和技术方面取得了一些有前景的进展,但IBD的发病机制和可靶向的分子驱动因素仍未被完全理解。因此,精准医学仍然只是一个理想目标。这篇全面的叙述性综述描述了我们目前对IBD病理生理学的理解,强调了治疗反应的初步遗传、免疫和微生物预测指标,并概述了“大数据”和机器学习在精准医学发展道路上的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1b4/11770437/0edc267cc6aa/egastro-2-1-g001.jpg

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