Appeal type: Experimental/Investigational
Decision: Overturned

Nature of Statutory Criteria/Case Summary: The parent of an enrollee has requested authorization and coverage for Genetic Molecular Profile Testing (CPT 81321, 81323, 81402, 81404, 81405, and 81406).Findings: Three out of three physician reviewers found that the requested Genetic Molecular Profile Testing (CPT 81321, 81323, 81402, 81404, 81405, and 81406) is likely to be more beneficial than any other available standard therapy for the patients condition.Very early-onset IBD (VEO-IBD) is a type of IBD that is diagnosed before 6 years of age. In recent years, great advancements have been made in the treatment of this disease, particularly in the area of molecular testing. Recent research has enabled the diagnosis of VEO-IBD utilizing next generation sequencing to identify disease causing mutations in nearly 60 genes to date (Arai, K.). These genes are associated with monogenic or Mendelian disorder-associated IBD (MD-IBD). Identifying disease causing mutations in MD-IBD has the potential to greatly impact treatment. For example, infliximab is contraindicated for the treatment of refractory CGD associated (a form of MD-IBD) with enterocolitis, as it led to a lethal outcome in 2 of 5 patients (Uzel, G., et al.). Furthermore, anti-IL-1 therapy has also been effective in the context of IL-10 signaling defects and mevalonate kinase deficiency, and it can be used as a bridge to allo-HSCT for sick children with IL-10 signaling defects (Galeotti, C., et al.). According to Shim and colleagues, monogenic IBD usually presents with refractory IBD or fistulous CD, so early treatment with biologics, or an unconventional approach such as hematopoietic stem cell transplantation (SCT) might be needed. Knowledge of the molecular cause of MD-IBD directs care and impacts outcomes.In this case, the patient has a medical history that is significant for very early onset inflammatory bowel disease (abdominal pain, diarrhea, poor weight gain, positive stool for occult blood, and a fecal protectin level > 1250). The patients most recent endoscopy revealed a pancreatic rest, pancolitis, terminal ileitis, and a perianal skin tag. After his most recent gastroenterology evaluation, the patient was started on infliximab and oral methotrexate. VEO-IBD targeted gene panel will allow for identification of a monogenetic variant, which would have significant clinical and therapeutic implications. Under these circumstances, the requested Genetic Molecular Profile Testing (CPT 81321, 81323, 81402, 81404, 81405, and 81406) is likely to be more beneficial than any other available standard therapy for the patients condition.Final Result: The reviewers determined that the requested services are likely to be more beneficial than any other available standard therapy for the patients condition. Therefore, the Health Plans denial should be overturned.Credentials/Qualifications: Physician reviewer 1 is board certified in clinical genetics and genomics and is actively practicing. Physician reviewers 2 and 3 are board certified in pediatrics and clinical genetics and genomics and are actively practicing. All three reviewers are experts in the treatment of the enrollees medical condition and are knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.