Appeal type: Experimental/Investigational
Decision: Overturned

 The enrollee requested reimbursement for FoundationOne CDx comprehensive genomic profiling test. The enrollee has  glioblastoma multiforme (GBM) and initially presented to her physician with a rapid, progressive neurologic decline over the course of four to five days. Diagnostics revealed a brain mass with intra-tumor hemorrhage. She underwent sub-total tumor resection. Pathology was significant for GBM. Her symptoms improved after surgery and the plan was for the initiation of chemo-radiation therapy. The neuro-oncologist determined additional testing of the tumor tissue was needed to discover any further genomic alterations. The FoundationOne CDx comprehensive genomic profiling test (CPT code 0037U) was performed. The provider indicates results were used to determine the best course of treatment, including which therapies are associated with potential clinical benefit or patient eligibility for any clinical trials. The provider believes that without this diagnostic he would be unable to determine which targeted course of treatment would be best for the patient; possibly leading to unnecessary exposure to chemotherapy.  FoundationOne CDx (F1CDx) is a next-generation, sequencing-based, in-vitro diagnostic device for the detection of substitutions, insertion and deletion alterations (indels), and copy number alterations (CNAs) in 324 genes and select gene rearrangements, as well as genomic signatures, including microsatellite instability (MSI) and tumor mutational burden (TMB).  Nationally recognized guidelines recommend mutation testing for the workup of glioma. In the appropriate clinical context, sequencing of isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) is highly recommended and may include next-generation sequencing. Sampling of tumor tissue to confirm recurrence is encouraged to obtain tissue for next-generation sequencing. Pathological testing indicated the patient's tumor was negative for MGMT (O[6]-methylguanine-DNA methyltransferase) and isocitrate dehydrogenase wild-type (IDH WT) via immunohistochemistry (IHC).  Based on these results, additional testing on the tumor tissue was needed to determine whether there may be additional targeted therapy options in the event of tumor progression.  Based on the tumors genetic analysis, sensitivity to other chemotherapeutic agents may be discovered. Molecular testing is considered suitable to be conducted within the confines of clinical trials. Guidelines indicate there are no identified targeted agents with demonstrated efficacy in glioblastoma. However, molecular testing of a primary tumor is encouraged, because if a driver mutation is detected, it may be reasonable to treat with a targeted therapy on a compassionate use basis and/or the patient may have more treatment options in the context of a clinical trial. The physician reviewer found that MGMT promotor methylation status. Advances in molecular diagnostics have led to the identification of new gene fusions driving oncogenesis in some of the most common sources of intracranial tumors. Systemic therapies have become available for patients whose tumors are driven by specific genetic alterations. Some of these targeted treatments have been associated with dramatic improvements in extracranial and intracranial disease control and survival. Thus, the FoundationOne CDx comprehensive genomic profiling test (CPT code 0037U) was likely to have been more beneficial than any available standard therapy in the treatment of this patients medical condition.Final Result: Two of the three reviewers determined that the requested services were likely to have been more beneficial than any available standard therapy for treatment of the enrollees medical condition.