Appeal type: Medical Necessity
Decision: Overturned

Nature of Statutory Criteria/Case Summary: The patients parent has requested authorization and coverage for Invitae Boosted Exome Duo testing. The patient presents with autism spectrum disorder with speech delays, staring spells, eye fluttering, and syncopal episodes. Evaluation with magnetic resonance imaging (MRI) and electroencephalogram (EEG) has failed to provide an etiology for the patients condition. His provider has recommended further analysis with Invitae Boosted Exome Duo testing. Exome sequencing is a comprehensive test which identifies changes in a patients deoxyribonucleic acid (DNA) that are causative or related to their medical concerns. In contrast to current sequencing tests that analyze one gene or small groups of related genes, exome sequencing will analyze the exons or coding regions of over 20,000 genes. Exome sequencing is a diagnostic test with high sensitivity and specificity. There is adequate medical literature and guideline support for exome sequencing in patients with neurodevelopmental disorders. A recent study evaluated 119 patients affected by neurodevelopmental disorders who underwent diagnostic exome sequencing. Of the patients assessed, 45% of the patients received a molecular diagnosis leading to a change in the clinical care or impression of their pathophysiology. Another study concluded the results of whole exome sequencing affected management for all patients in their study with a presumptive diagnosis. The study discussed the widespread implications of the results to include reproductive planning, disease monitoring, investigation of systemic involvement of the disorder(s), alteration of presumed disease inheritance pattern, medication discontinuation or initiation, and clinical trial education. Overall, the peer-reviewed medical literature has demonstrated exome sequencing is a powerful diagnostic tool with results that can positively influence patient care. Furthermore, the American College of Medical Genetics and Genomics has endorsed the utility of whole exome sequencing for patients with a phenotype or family history strongly implicating a genetic etiology, but the phenotype does not correspond with a specific gene testing or specific genetic tests available for that phenotype have failed to arrive at a diagnosis, or a patient presents with a defined genetic disorder that demonstrates a high degree of genetic heterogeneity. Based on the available documentation, this patient meets the criteria for exome sequencing. Therefore, the requested Invitae Boosted Exome Duo testing is medically necessary for this patient. Final Result: The reviewer determined the requested services are medically necessary for evaluation of the patients medical condition. Therefore, the Health Plans denial should be overturned. Credentials/Qualifications: The reviewer is board certified in pediatrics with subspecialty certifications in neurodevelopmental behavioral pediatrics and 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.