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Curr Gastroenterol Rep. 2012 Apr;14(2):139-45. doi: 10.1007/s11894-012-0248-6.

Have genomic discoveries in inflammatory bowel disease translated into clinical progress?

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  • 1Mount Sinai Hospital Inflammatory Bowel Disease Group, Zane Cohen Centre for Digestive Diseases, University of Toronto, Ontario, Canada.


Inflammatory bowel disease (IBD) is a heterogeneous disease that can be challenging to diagnose and manage. As a result, significant efforts have been made in attempting to identify clinical, genomic, and serologic markers of disease that can aid in patient assessment and treatment. Recent genomic discoveries have the potential to change clinical practice by identifying those susceptible to IBD, predict natural history and guide choice of therapy. Panels of genetic and genomic markers are more likely to emerge as clinical tools, as opposed to individual allelic variants. Serology and biomarkers are already being used and guiding management but await integration with genomic panels before achieving their maximal potential. This article reviews the current state of IBD genetics and evolving molecular approaches that may have potential clinical impact.

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