Appeal type: Medical necessity
Decision: Upheld

Diagnosis: Ulcerative Colitis
Treatment: Diagnostic Testing (invitae monogenic inflammatory bowel disease panel) (81405 x1, 81406 x1 and 81479 x 1)
The insurer denied the Diagnostic Testing (invitae monogenic inflammatory bowel disease panel) (81405 x1, 81406 x1 and 81479 x 1).
The denial is upheld.

The patient is a male. He has been diagnosed with inflammatory bowel disease, ulcerative colitis. His doctor sent a VEO IBD (Very Early Onset Inflammatory Bowel Disease) genetic diagnostic test (invitae monogenic inflammatory bowel disease panel) (81405 x1, 81406 x1 and 81479 x 1).

No, the requested health service is not medically necessary.
A multicenter study in Europe showed that genetic testing identified 66/207 children (32%) with genetic defects in children with VEO-IBD (Very Early Onset Inflammatory Bowel Disease) (Charbit-Henrion et al 2018).

Lega et al (2020) described the diagnostic approach to suspected monogenic IBD (inflammatory bowel disease) in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis. They concluded that "A genetic diagnosis can be established in a significant proportion of suspected monogenic IBD [inflammatory bowel disease] and has an impact on patients' management. Candidate sequencing may be deployed when clinical findings 
orientate toward a specific diagnosis. Next generation sequencing should be preferred in patients with nonspecific phenotypes."

Current national pediatric gastroenterology society (NASPGHAN) published position paper regarding evaluation of Very Early-onset Inflammatory Bowel Disease (Kelsen et al 2020):

1) The initial immunological studies that should be performed on all patients with VEO-IBD [Very Early Onset Inflammatory Bowel Disease] includes evaluation of humoral immunity and antibody deficiency.

2) The following studies should be performed in collaboration with pediatric immunology: Lymphocyte subset analyses.

3) Phenotype-specific Studies: Further gene-specific studies also should be performed and interpreted in collaboration with a pediatric immunologist, and will be directed by the patient's phenotype. For example, patients who present in the neonatal period with severe intestinal and perianal disease should undergo evaluation for IL-10/IL-10R [interleukin 10/interleukin 10R] defects.

4) Genetic Evaluation: Although the above evaluation is vital to determine the extent of disease and determine the immunophenotype, genetic sequencing is often necessary to identify the specific monogenic forms of VEO-IBD [Very Early Onset Inflammatory Bowel Disease], or to confirm a suspected defect. Targeted sequencing panels have been developed, but the sensitivity of these panels has not been rigorously tested.

In summary, current pediatric GI (gastrointestinal) society (NASPGHAN) recommend step wise approaches, starting with immunological studies, then phenotype-specific Studies (e.g. IL-10/IL 10R defects) and finally genetic evaluation. Even for genetic evaluation, they stated that "Targeted sequencing panels have been developed, but the sensitivity of these panels has not been rigorously tested." The current position paper does not recommend a targeted genetic diagnostic test panel as a routine test. Thus, the requested VEO IBD (Very Early Onset Inflammatory Bowel Disease) genetic diagnostic test (invitae monogenic inflammatory bowel disease panel) (81405 x1, 81406 x1 and 81479 x 1) is not medically necessary.