Evidence map›Paper›PMID 41689683›Full record

ReviewDigestive diseases and sciences2026

Translating IBD Genomics into Clinical Practice.

Pranjal Singh, Mridul Mahajan, Rohit Garg, Himanshu Narang, Vineet Ahuja

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In one paragraph

Review in Digestive diseases and sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Pranjal SinghDepartment of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, India.
Mridul MahajanDepartment of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, India.
Rohit GargDepartment of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, India.
Himanshu NarangDepartment of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, India.
Vineet AhujaDepartment of Gastroenterology and Human Nutrition, All India Institute of Medical Sciences, New Delhi, India. vineet.aiims@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeRapid advances in genomics have transformed our understanding of the biological mechanisms underlying inflammatory bowel disease (IBD). Although adult-onset IBD is predominantly polygenic, current applications of genetics lie in monogenic forms of IBD and pharmacogenetics. This review aims to serve as a primer for clinicians and outline the evolving role of genomics in IBD, identify clinical scenarios in which genetic testing is relevant, and highlight its implications for diagnosis and treatment.

methodsA narrative review of the literature was performed, focusing on monogenic causes of IBD, diagnostic approaches to suspected monogenic cases, therapeutic implications and established pharmacogenetic associations relevant to clinical practice.

resultsGenome-wide association studies have identified more than 320 susceptibility loci associated with Crohn's disease and ulcerative colitis, implicating pathways involving innate immunity, autophagy, epithelial barrier integrity, and cytokine signalling. However, these common variants individually confer modest disease risk and explain only a limited proportion of heritability, restricting their direct clinical utility. In contrast, nextgeneration sequencing has enabled the identification of rare, high-penetrance monogenic defects, particularly in very-early-onset and treatment-refractory IBD. Recognition of these disorders has important therapeutic implications, including targeted biologic therapy and, in selected cases, curative hematopoietic stem cell transplantation. In parallel, pharmacogenetic testing, most notably for NUDT15 and TPMT variants, has become integral to optimising thiopurine safety.

conclusionsAdvances in genomics are steadily reshaping the clinical management of inflammatory bowel disease. Integration of genetic testing, particularly in patients with very early-onset or difficult-to-treat disease and in optimising drug safety, can support more informed, individualised treatment decisions. As genomic technologies become increasingly accessible, their incorporation into routine IBD care has the potential to improve outcomes and move clinical practice closer towards personalised medicine.

Indexed as

Colitis, UlcerativeCrohn DiseaseGenomicsInflammatory Bowel DiseasesGenetic Predisposition to DiseaseGenetic TestingGenome-Wide Association StudyHumansPharmacogeneticsCrohn’s diseaseGeneticsMonogenic IBDPharmacogeneticsUlcerative colitis

Identifiers

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.