Appeal type: Medical Necessity
Decision: Overturned

Nature of Statutory Criteria/Case Summary: The parent of an enrollee has requested authorization and coverage for a Microcephaly Xpanded Panel.  The cause of microcephaly can be difficult to discern as there are many genes contributing to microcephaly, either as an isolated finding in an individual or as part of an underlying syndrome. It is often necessary to perform testing of multiple genes (concurrently or as reflex tests) to identify the underlying genetic cause in an individual. Microcephaly can be caused by chromosomal abnormalities, inborn errors of metabolism, single gene disorders, trauma and infection. The inheritance patterns can be autosomal dominant, recessive or x-linked. One type of isolated congenital microcephaly that has a genetic etiology is primary autosomal recessive microcephaly (MCPH), which is a rare and heterogeneous disorder, with an incidence in consanguineous populations of approximately one in 10,000 and less in non-consanguineous populations. To date, there are twelve subtypes of MCPH and between 37-54% of patients with a strictly characterized MCPH diagnosis have a pathogenic variant in the ASPM gene, associated with MCPH5.  Syndromic forms of microcephaly are associated with underlying chromosomal aberrations, contiguous gene deletions, and single gene disorders that are inherited in an autosomal dominant, recessive, or X-linked manner. Several of these syndromes have postnatal onset of microcephaly, including Rett syndrome and Ataxia telangectasia with intellectual disability, whereas other syndromes, such as Cornelia de Lange, Smith-Lemli Opitz, and Seckel, present with congenital microcephaly.The Microcephaly Xpanded Panel uses a trio approach that includes concurrent analysis of the affected proband and both parents, which increases the likelihood of identifying a definitive genetic explanation for the cause of microcephaly in an individual. The initial successes of next-generation sequencing involved identification of genes for distinctive and exceptionally rare syndromes that there were only ever going to have one or two candidate genes. However, independent researchers demonstrated that `Next Gen,` is powerful enough to be used in common clinical settings to identify mutations in genes that cause severe but nonspecific developmental disorders, such as microcephaly, that have many candidate genes.  In this case, the patient has microcephaly, cerebral palsy, and global developmental delay and has been evaluated to determine the underlying cause for her different features. The medical literature supports the use of the requested testing under these circumstances. Accordingly, the requested Microcephaly Xpanded Panel is medically necessary to treat the patients medical condition.Final Result: The reviewer determined that the requested services are medically necessary for treatment of the patients medical condition. Therefore, the Health Plans denial should be overturned.Credentials/Qualifications: The reviewer is board certified in pediatrics and 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.