Clinical Genomics in Inflammatory Bowel Disease

Area of Science:

• Genomic Medicine
• Inflammatory Bowel Disease (IBD) Research

Background:

• Genomic technologies are elucidating the genetic underpinnings of both polygenic and monogenic forms of inflammatory bowel disease (IBD).
• Clinical genomics has evolved from rare disease research to become an integral part of standard care, particularly for diagnosing IBD patients with extreme phenotypes linked to monogenic causes.

Purpose of the Study:

• To explore the role of clinical genomics in diagnosing monogenic inflammatory bowel disease (IBD).
• To discuss the potential and challenges of applying genomic medicine for personalized IBD treatment.

Main Methods:

• Review of advances in diagnostic clinical genomics for IBD.
• Analysis of the integration of genomic findings with pathway-specific therapies.

Main Results:

• Genomic approaches are enabling the diagnosis of monogenic IBD, paving the way for personalized medicine.
• Despite progress, IBD presents challenges due to the low prevalence of Mendelian defects, a high number of candidate genes, and emerging interventional evidence.

Conclusions:

• Clinical genomics offers significant potential for personalized precision medicine in IBD.
• Further development is needed in explanatory and predictive genomics to fully realize its application in IBD management.