Determining a definitive diagnosis
Monogenic inflammatory bowel disease (IBD) refers to a diverse spectrum of rare genetic disorders that present with intestinal inflammation.1 Unlike patients with polygenic IBD, most patients with monogenic IBD show symptoms before age 6. Because monogenic and polygenic IBD can have indistinguishable endoscopic or histologic features, establishing accurate diagnosis via traditional methods remains a challenge.2
Comprehensive genetic testing to confirm diagnosis and optimize treatment
Genetic testing can identify patients with monogenic IBD and primary immunodeficiencies that present with IBD-like features. Isolating the genetic cause of the illness enables clinicians to choose treatment options that enhance outcomes. Mayo Clinic Laboratories offers a genetic panel that detects variants in 51 genes with established associations to monogenic IBD and primary immunodeficiencies that present with IBD-like features, but do not respond to standard IBD treatments. This includes testing for genes associated with rare diseases, such as Mediterranean Fever, with increased prevalence in certain ethnic groups.
Striving for diversity and equity in health care
Mayo Clinic Laboratories’ focus on diversity and equity in health care compels us to consider genetic factors when developing tests to minimize testing disparities.
When to consider testing
Signs that should raise suspicion of monogenic IBD and prompt testing:
IBD-associated monogenic disorders and their linked genes
T- and B-Cell Defects
Hyperinflammatory and Autoinflammatory Disorders
Additional Genes Associated with IBD-Like Monogenic Diseases
Early-onset IBD: Genetic testing and clinical applications
Identification of early-onset IBD may enable tailored treatment and surveillance plans. With more than 50 genes implicated in early-onset IBD, genetic testing should be included in the workup of children with IBD under the age of 6. Join Mayo Clinic for a discussion of this testing and its clinical application.
Contextualizing patient phenotype
Because genetic testing is probabilistic in nature, variant classification and interpretation can be challenging. Guidelines with specific criteria are used to decipher results; however, professional judgment is required to determine whether a detected variant is the cause of a patient’s phenotype.
Mayo Clinic Laboratories test results are interpreted by a team of experienced laboratory directors and genetic counselors familiar with the latest literature who will classify variants detected using American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines.
The detailed reports that accompany test results contextualize findings to provide clarity on disease presence. This approach provides ordering physicians the autonomy to make a diagnosis based on patient-specific factors.