Excellus BCBS – Medical Policy Update (#2.02.46)
January 11, 2021Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders utilizes next-generation or massively parallel sequencing technology which allows multiple genes to be analyzed at one time and may return a pathogenic variant that is associated with a gene-causing disease. A potential major indication for whole exome or whole genome sequencing is for a molecular diagnosis of patients with a phenotype that is suspicious for a genetic disorder or for patients with known genetic disorders that have a large degree of genetic heterogeneity involving substantial gene complexity. Such patients may be left without a clinical diagnosis of their disorder, despite a lengthy diagnostic workup involving a variety of traditional molecular and other types of conventional diagnostic tests. For some of these patients, whole exome or whole genome sequencing (WES/WGS), after initial conventional testing has failed to make the diagnosis, may return a likely pathogenic variant.
With this year’s update, there was a change in the investigational stance for whole exome sequencing. Whole exome sequencing may now be considered medically necessary for the evaluation of unexplained congenital or neurodevelopmental disorder in children less than 21 years of age when a genetic cause is suspected to be the origin of the disorder, the clinical presentation does not fit a single well-described syndrome, or may describe two or more syndromes, the affected individual is faced with invasive procedures or testing as the next diagnostic step, and there is potential for a change in management and clinical outcome for the individual being tested. Whole genome sequencing continues to be considered investigational. WES/WGS are considered investigational for prenatal diagnosis or preimplantation testing of an embryo.