Appeal type: Experimental/Investigational
Decision: Overturned Decision of Health Plan

Nature of Statutory Criteria/Case Summary: The parent of a 17-year-old enrollee has requested authorization and coverage for whole exome sequencing (WES) for evaluation of the enrollees common variable immune deficiency, granulomatous lymphcytic interstitial lung disease (GLIID), and oxalate distal neuropathy. Findings:  2/3 of the physician reviewers found that WES is a technology whereby the portion of the genome consisting of coding sequences is analyzed to look for variants that may explain the patients phenotype. Clinical indications for WES are a suspected genetic disorder based on signs and symptoms, with no known single gene condition fitting the phenotype. The utility of WES for gene discovery to identify the genetic cause of well-characterized specific phenotypes has been demonstrated in the peer-reviewed medical literature. Information is accumulating that shows a diagnosis is made more cheaply and more expediently using newer genetic technologies such as exome sequencing rather than diagnostic testing that includes invasive procedures. In this patients case, it is expected that mutations in alanine glyoxylate-aminotransferase (AGXT) will be found to explain the hyperoxaluria. However, if an alternative explanation for the neuropathy is found, this could alter the plan for transplantation if the sole indication for transplantation at this time is to ameliorate the patients neuropathy. All told, the requested WES testing has a clinical indication with the potential to change this patients management and is likely to be more beneficial for evaluation of the patients medical condition than any available standard therapy.  Final Result: 2/3 of the reviewers determined that the requested testing is likely to be more beneficial for evaluation for the enrollees medical condition than any available standard therapy. Therefore, the Health Plans denial should be overturned. Credentials/Qualifications: Physician reviewer number one is board certified in pediatrics with sub-specialty certification in clinical genetics and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.Physician reviewer number two is board certified in pediatrics with sub-specialty certification in clinical genetics and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.Physician reviewer number three is board certified in pediatrics with sub-specialty certifications in clinical genetics and neurodevelopmental behavioral pediatrics and is actively practicing. The reviewer is an expert in the treatment of the enrollees medical condition and knowledgeable about the proposed treatment through recent or current actual clinical experience treating those with the same or a similar medical condition.