Whole Exome and Whole Genome Sequencing (Non-Oncology Conditions)
Outlines when WES and WGS (including comparator analysis, reanalysis, and prenatal WES) are considered medically necessary for non-oncology indications in outpatient or post-discharge settings and lists unproven uses. Applies to Colorado Rocky Mountain Health Plans commercial members except where state-specific policies apply.
Genetic counseling is strongly recommended prior to Whole Exome Sequencing or Whole Genome Sequencing.
Epigenetic signature analysis is considered unproven and not medically necessary for any indication.
Replaced wording to refer to optical genome mapping (OGM) nomenclature and clarified applicability of policy to outpatient setting or testing upon discharge from inpatient setting.
Revised coverage criteria language for WES/WGS to: affected individual displays signs or symptoms of an undiagnosed or unexplained disorder with a suspected genetic cause and the test results are intended to directly impact the individual's medical management.
Removed criterion that required neither CMA nor WES have been performed, or CMA/WES were nondiagnostic for WGS.
Revised multiple criteria statements to require that congenital anomalies affect 'at least two different organ systems' when describing multiple congenital anomalies.
Revised reanalysis timing criterion to require at least 18 months have passed since the initial WES/WGS and that the affected individual meets criteria for WES/WGS.
Clarified Non-Concurrent Comparator Analysis: proven and medically necessary when the affected individual meets WES/WGS criteria and WES/WGS was previously performed on the affected individual.
Medical records documentation language added: benefit coverage determined by federal, state, or contractual requirements and medical records may be required to assess coverage but do not guarantee coverage.
Definitions were added for Autism Spectrum Disorder, Congenital Anomaly, Epileptic Encephalopathy, Targeted Panel, and Well-Delineated Genetic Syndrome.
Removed definitions for Next Generation Sequencing (NGS) and Variant of Unknown Significance (VUS).
Definition of 'Next Generation Sequencing (NGS)' was removed.
Definition of 'Variant of Unknown Significance (VUS)' was removed.
Definitions related to 'Well-Delineated Genetic Syndrome' and 'Targeted Panel' were removed.
Definitions updated for 'Comparator Analysis', 'Global Developmental Delay', 'Intellectual Disability', and 'Preimplantation Genetic Testing (PGT)'.
CPT codes 0318U, 0582U, 0583U, and 81354 were added to applicable codes.
Previous policy version CS150.T was archived.
Supporting sections (Description of Services, Clinical Evidence, References) were updated to current information.
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