Protecting pediatrics from misdiagnosis

A worldwide increase of the incidence of early-onset pediatric inflammatory bowel disease (IBD) means more children than ever are diagnosed with and treated for the life-altering condition. However, not all children suspected of having early-onset IBD have the condition. A subset of these patients has monogenic inflammatory bowel disease (IBD).

Monogenic 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 an accurate diagnosis via traditional methods remains a challenge.2 While similar in presentation, these conditions don’t typically respond to IBD-approved therapies. As a result, numerous children are unnecessarily exposed to invasive procedures and potentially harmful treatments.

Comprehensive genetic testing to confirm diagnosis and optimize treatment

Mayo Clinic Laboratories’ genetic IBD panel uses precision analysis to identify variants in 51 genes with established associations to inherited illnesses that resemble IBD but do not respond to standard IBD treatments. Isolating the genetic cause of the illness enables clinicians not only to clarify and confirm diagnosis, but guide treatment choices. Our comprehensive panel includes testing for genes associated with rare diseases, such as Mediterranean Fever, that are more prevalent in certain ethnic groups.

Key testing

IBDGP | Inflammatory Bowel Disease Primary Immunodeficiency (PID) Panel, Varies

  • Helpful for children with early-onset IBD, which typically occurs in children under age 6.
  • Identifies genetic variants in 51 genes with known associations to IBD and immunodeficiency.
  • Can help establish diagnosis and, in some cases, support appropriate management and surveillance for disease features based on the involved gene.
  • Includes testing for genes associated with rare diseases, such as Mediterranean fever, that are more prevalent in certain ethnic groups.
  • Noninvasive, child-friendly specimen collection option (finger stick).

A Test in Focus

Ann Moyer, M.D., Ph.D., gives an overview of the inflammatory bowel disease primary immunodeficiency testing available through Mayo Clinic Laboratories. She discusses when this testing should be ordered, how this testing improves upon previous testing approaches, and what clinical action can be taken due to the results of this testing.

Learn more

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.

Learn more about how to order these tests at your institution.

References

  1. Shim, Jung. Recent advances in very early onset inflammatory bowel disease. Pediatr Gastroenterol Hepatol Nutr. 2019;21(1):41–49.
  2. Lega S, Pin A, Arrigo S, Cifaldi C, Girardelli M, et al. Diagnostic approach to monogenic inflammatory bowel disease in clinical practice: a ten-year multicentric experience. Inflamm Bowel Dis. 2019;20(20):1-8.