Key Points
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Basic science advances herald an era in which IBD will be subcategorized on the basis of the involvement of specific molecular pathways
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Knowledge of variation in IBD-susceptibility genes has expanded our understanding of the biological pathways relevant to disease susceptibility and to clinical phenomena including disease location and therapeutic response
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Multimodal algorithms that combine clinical and genetic information will show utility in diagnostic panels and for predicting disease course and therapeutic response
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Gene expression signatures and composite models that reflect the influence of environmental factors, such as the microbiome, show promise as tools for individualized risk stratification and treatment selection
Abstract
The expanding knowledge of the role of genetic variants involved in the susceptibility to IBD heralds an era of disease categorization beyond Crohn's disease and ulcerative colitis. A more robust molecular definition of the spectrum of IBD subtypes is likely to be based on specific molecular pathways that determine not only disease susceptibility but also disease characteristics such as location, natural history and therapeutic response. Evolving diagnostic panels for IBD will include clinical variables and genetic markers as well as other indicators of gene function and interaction with environmental factors, such as the microbiome. Multimodal algorithms that combine clinical, serologic and genetic information are likely to be useful in predicting disease course. Variation in IBD-susceptibility and drug-related pathway genes seems to influence the response to anti-TNF therapy. Furthermore, gene expression signatures and composite models have both shown promise as predictors of therapeutic response. Ultimately, models based on combinations of genotype and gene expression data with clinical, biochemical, serological, and microbiome data for clinically meaningful subgroups of patients should permit the development of tools for individualized risk stratification and treatment selection.
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M. E. Gerich researched data, discussed content, wrote and reviewed/edited the manuscript. D. P. B. McGovern discussed the content and reviewed/edited the manuscript.
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D. P. B. McGovern is on the advisory board for UCB and acts as an advisor for 23andMe. M. E. Gerich declares no competing interests.
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Gerich, M., McGovern, D. Towards personalized care in IBD. Nat Rev Gastroenterol Hepatol 11, 287–299 (2014). https://doi.org/10.1038/nrgastro.2013.242
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DOI: https://doi.org/10.1038/nrgastro.2013.242
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