Blue Cross Blue Shield RI Genetic Testing Coverage

Coverage Criteria

Medically necessary criteria

Genetic testing may be considered medically necessary when the criteria in the online authorization tool and/or BCBSRI policy are met.

General carrier/panel testing prerequisites: One or both individuals have a first- or second-degree affected relative; one individual is a known carrier; prior targeted carrier/variant testing has not been performed; individuals may be members of a population with elevated carrier rates.

First-degree relatives include biological parent, sibling, or child.

Purposes for germline testing: To identify a causative etiology for a clinical syndrome with multiple possible conditions; to confirm a suspected diagnosis in symptomatic patients; to test asymptomatic individuals to determine future disease risk.

Genetic testing for cancer: Considered medically necessary when testing directs targeted treatment based on somatic variants in affected individuals or when testing an asymptomatic patient to determine future cancer risk.

General medical necessity

Coverage is determined based on clinical validity and criteria in the attached code grid; tests with insufficient evidence are not medically necessary.

General coverage requirement: Test must have demonstrated clinical validity and sufficient published evidence; follow attached coding/indication grid.

See attached grid for product-specific coverage indications and codes.

Genetic tests are considered not covered when there is insufficient clinical evidence to demonstrate clinical validity or when test results would not reasonably be used in patient management. For Medicare Advantage Plans such tests are designated as not covered; for Commercial Products they are considered not medically necessary. Panel tests in particular often lack evidence of improved health outcomes and may be denied when individual CPT components or the overall panel do not meet criteria in the attached coding grid.

Authorization and coverage determinations rely on whether results will meaningfully change therapeutic decision-making. If the evidence does not support that test findings will impact clinical management, coverage will be denied or the test deemed not medically necessary.

Tests with extremely limited published data or with insufficient evidence demonstrating clinical validity are considered not medically necessary. When the evidence base is inadequate to determine the effect of the technology on health outcomes, the test will be denied on the basis of insufficient evidence.

Coverage distinctions vary by product: for Medicare Advantage Plans, genetic testing services that lack sufficient evidence are designated as not covered; for Commercial Products, those same tests are considered not medically necessary. Prior authorization is required for tests indicated in the attached coding grid for Medicare Advantage Plans and is recommended for Commercial Products; requests must be submitted through the BCBSRI online authorization tool or faxed when the test is not listed in the tool.

Providers should consult the attached coding grid to determine product-specific coverage and prior authorization requirements and enter each individual panel CPT component separately when submitting authorization requests.

Tests that lack demonstrated clinical utility or clinical validity are considered not medically necessary. This includes assays and panels for which published evidence does not support a meaningful effect on patient management or health outcomes.

When clinical utility or validity is not established in the peer-reviewed literature, the test will not meet medical necessity criteria and coverage will be denied.

Covered Indications

Covered indications

Diagnostic and confirmatory testing: Testing to identify a causative etiology for a clinical syndrome with multiple possible underlying conditions or to confirm a suspected diagnosis in a patient with signs and/or symptoms.

Predictive/asymptomatic risk assessment: Testing an asymptomatic individual to determine future risk of disease (including hereditary cancer risk assessment).

Tumor/somatic testing for targeted therapy: Tumor (somatic) testing to identify variants that direct targeted therapeutic treatment for an affected individual.

See attached coding grid

Coding and Billing

Coding

Coding thresholdN/A

Code gridSee attached coding grid for Medicare Advantage and Commercial Products indicating coverage and prior authorization requirements

Panel entryPanel testing requires each CPT component to be entered and processed independently (see submission requirements)

Provider Actions and Authorization

Prior Authorization

Prior Authorization Required

Prior authorization is required for Medicare Advantage Plans and recommended for Commercial Products for tests indicated in the attached coding grid. Submit authorization requests via the BCBSRI online authorization tool (available to BCBSRI-participating providers). If a test is not listed in the online tool, fax requests to Utilization Management at (401) 272-8885. Panel testing must have authorization entered for each component and/or gene/gene variant when represented by multiple CPT codes; enter and process each individual CPT code separately through the online tool.

Required for Medicare Advantage; recommended for Commercial when indicated in the attached coding grid
Use BCBSRI online authorization tool; fax to Utilization Management at (401) 272-8885 if not listed
Panel tests: authorize each CPT-coded component separately in the online tool

Note

InterQual Used for Medical Necessity

Use InterQual criteria (available in the online authorization tool) to determine medical necessity for the majority of genetic testing requests. The online tool contains category-specific criteria and the general screening criteria when a separate criterion is not identified for the requested test.

Eligibility Requirements

Coverage is limited to situations that meet the criteria in the online authorization tool and the policy. General eligibility requires that testing is likely to benefit the patient and that at least one of the following applies: to identify a causative etiology for a clinical syndrome with multiple possible causes; to confirm a suspected diagnosis in a symptomatic patient; or to evaluate future disease risk in an asymptomatic individual. For cancer testing, eligibility includes testing to direct targeted treatment based on somatic variants or to assess hereditary cancer risk in asymptomatic patients.

Panel composition, prior testing, and family history affect eligibility: coverage may require that one or both individuals have a first- or second-degree affected relative, that prior targeted testing for the variant(s) of interest has not already been performed, or that an individual belongs to a population with an elevated carrier rate appropriate for screening.

Authorization and ordering requirements: generally, InterQual criteria are used within the online authorization tool to determine medical necessity for most genetic tests. Prior targeted carrier screening or individual gene testing should not have been performed for the variant(s) of interest for carrier testing to be eligible.

Only the ordering physician may be involved in authorization, appeals, or other administrative processes; laboratories and third parties are not permitted to obtain authorization or participate on the ordering physician’s behalf.

Not Covered / Not Medically Necessary

Panels or tests that lack sufficient evidence of clinical validity or that would not change clinical management are not covered for Medicare Advantage and are considered not medically necessary for Commercial Products. When a panel includes genes or variants without established clinical management pathways, the test may be denied.

Because panel composition varies by laboratory and large panels increase the likelihood of variants of uncertain significance, panels that do not demonstrate condition-specific clinical validity will be excluded from coverage.

Tests without sufficient evidence of clinical validity or clinical utility are designated as not covered (Medicare Advantage) or not medically necessary (Commercial). The absence of studies demonstrating improved health outcomes or clear management implications for identified variants is a primary basis for noncoverage.

When the clinical validity or utility for a test cannot be established from published data, the test will not meet medical necessity criteria and coverage will be denied.

Background

Genetic testing encompasses analysis of chromosomes, DNA, RNA, genes, or gene products to detect inherited (germline) or noninherited (somatic) variants for purposes including diagnosis, prognosis, treatment selection, carrier screening, and pharmacogenomics. Genomic sequencing procedures (eg, NGS panels) and other multianalyte assays allow simultaneous interrogation of multiple genes, which can improve diagnostic breadth but also generates large numbers of variants of uncertain significance.

Limitations of genetic testing include the possibility of identifying variants of uncertain significance (VUS), incomplete detection of all variant types, phenotypic and genetic heterogeneity, and potential laboratory error. Large panels can approach a VUS rate of nearly 50%, and clinical validity and utility are condition-specific; therefore, the decision to test should consider whether results will meaningfully alter patient management.

Definitions

Genetic Testing

DefinitionGenetic testing involves analysis of chromosomes, DNA, RNA, genes, or gene products to detect inherited (germline) or noninherited (somatic) genetic variants related to disease or health.

Purpose examplesUsed for diagnosis, prognosis, treatment selection, carrier screening, and pharmacogenomics.

ScopeIncludes single-gene tests, multigene panels, genomic sequencing procedures, and other molecular multianalyte assays.

Carrier Testing

DefinitionA carrier has one abnormal allele for a disorder; carriers are typically unaffected for autosomal recessive or X-linked conditions but may be affected or at risk for autosomal dominant conditions.

When offeredCarrier testing may be offered to people with affected family members, identified carriers in the family, or members of ethnic/racial groups with higher carrier rates.

OpenPayer

Medical Coverage Policy — Genetic Testing Services