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Published on: October 14, 2025
Pharmacogenomics in the treatment of inflammatory bowel disease
Melissa A Smith1, Anthony M Marinaki, Jeremy D Sanderson
1Department of Gastroenterology, 1st Floor, College House, St Thomas' Hospital, Lambeth Palace Road, London, SE1 7EH, UK.
Abstract:
In recent years, the benefits of early aggressive treatment paradigms for inflammatory bowel disease have emerged. Symptomatic improvement is no longer considered adequate; instead, the aim of treatment has become mucosal healing and altered natural history. Nonetheless, we still fail to achieve these end points in a large number of our patients. There are many reasons why patients fail to respond or develop toxicity when exposed to drugs used for inflammatory bowel disease, but genetic variation is likely to account for a significant proportion of this. Some examples, notably thiopurine methyltransferase polymorphism in thiopurine treatment, are already established in clinical practice. We present a review of the expanding literature in this field, highlighting many interesting developments in pharmacogenomics applied to inflammatory bowel disease and, where possible, providing guidance on the translation of these developments into clinical practice.
Insights
Genetic variations impact inflammatory bowel disease treatment response and toxicity. Understanding pharmacogenomics can personalize therapies for better outcomes, moving beyond symptomatic relief to mucosal healing.
Area of Science:
- Gastroenterology
- Pharmacogenomics
- Internal Medicine
Background:
- Current inflammatory bowel disease (IBD) treatment aims for mucosal healing and altered disease course, not just symptom relief.
- Despite advancements, many patients do not achieve treatment goals or experience adverse drug reactions.
- Genetic factors are increasingly recognized as significant contributors to treatment variability in IBD.
Purpose of the Study:
- To review the latest developments in pharmacogenomics for inflammatory bowel disease (IBD).
- To highlight how genetic variations influence patient response and toxicity to IBD medications.
- To provide guidance on translating pharmacogenomic findings into clinical practice for IBD management.
Main Methods:
- Comprehensive literature review of pharmacogenomics in inflammatory bowel disease.
- Analysis of genetic polymorphisms and their association with drug efficacy and safety.
- Examination of established and emerging pharmacogenomic applications in IBD treatment.
Main Results:
- Thiopurine methyltransferase (TPMT) polymorphism is a clinically established example influencing thiopurine therapy.
- Emerging research identifies numerous other genetic variations affecting IBD drug response and toxicity.
- Pharmacogenomic data offers potential for tailoring IBD treatments to individual patients.
Conclusions:
- Pharmacogenomics holds significant promise for optimizing inflammatory bowel disease treatment strategies.
- Personalized medicine approaches based on genetic profiles can improve therapeutic outcomes and reduce adverse events.
- Further research and clinical integration of pharmacogenomics are crucial for advancing IBD care.
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