Whole Exome and Whole Genome Sequencing for Diagnosis of Genetic Disorders (2.04.102)
Summary
Blue Shield of California medical policy 2.04.102 has been in effect since April 1, 2026, and its policy statement did not change in this annual review, which updated the guidelines, literature review and coding. Standard whole exome sequencing (with trio testing when possible) may be considered medically necessary for unexplained congenital or neurodevelopmental disorders, and standard whole genome sequencing may be considered medically necessary for these disorders in children, when the policy criteria are met. Rapid WES or rapid WGS may be considered medically necessary for critically ill infants in neonatal or pediatric intensive care with a suspected genetic disorder of unknown etiology when the policy criteria are met, while repeat WES (including re-analysis), screening, and all other uses of WES or WGS are considered investigational.
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