BCBSRI Genetic Testing Coverage Update

Coverage criteria and policy scope

Medical necessity criteria

Covered when ALL of the following are met or when criteria in the online authorization tool are satisfied

General carrier/screening criteria: One or both individuals have a first- or second-degree relative who is affected OR one individual is known to be a carrier; previous carrier screening or individual targeted gene testing for the variant(s) of interest has not been performed; one or both individuals are members of a population known to have a carrier rate that exceeds the threshold considered appropriate for testing for the condition.

See definitions for first-degree relatives.

Diagnostic uses: Testing to identify a causative etiology for a clinical syndrome with multiple possible underlying conditions OR to confirm a suspected diagnosis in a symptomatic patient OR testing an asymptomatic individual to determine future risk of disease.

Cancer-related testing: Testing is medically necessary when used to direct targeted treatment based on specific somatic variants in tumor tissue OR to assess future hereditary cancer risk in an asymptomatic patient.

Context-specific criteria may be in the online authorization tool.

General coverage criteria

Coverage is determined by clinical validity, demonstrated utility, and the coding/criteria grid; tests lacking sufficient evidence are not covered.

General coverage logic: Genetic tests are covered when clinical validity and demonstrated clinical utility are established and when criteria specified in the coding/coverage grid are met; tests with insufficient published evidence of clinical validity or utility are considered not medically necessary and are not covered.

See attached coding grid and related policies for code- and indication-specific determinations.

Genetic tests are not covered or are considered not medically necessary when there is insufficient clinical evidence, when results are unlikely to affect therapeutic decision‑making or clinical management, or when results would not reasonably be used in patient management. For Medicare Advantage Plans this includes tests and panels for which research does not demonstrate improved net health outcomes; for Commercial Products the same standard applies as tests deemed not medically necessary. Laboratories may not obtain authorization on behalf of the ordering physician; authorization and related administrative processes must be completed by the ordering physician.

When coverage depends on the diagnosis code submitted with the claim, providers should refer to the attached coding/coverage grid and the Comments column for diagnosis coding guidance and any related policy references.

Tests with extremely limited published data or without demonstrated clinical validity are considered not medically necessary. The policy considers technologies for which published evidence is insufficient to determine an effect on health outcomes to be excluded from coverage.

Expanded gene panels and some newer assays can generate high rates of variants of uncertain significance; when evidence is lacking that identification of these variants leads to improved clinical outcomes, the tests are not covered.

Whole panels or tests may be considered not covered for Medicare Advantage and not medically necessary for Commercial Products when evidence is insufficient to show an improvement in net health outcomes or when one or more genes/variants on a panel lack demonstrated clinical utility. In such situations the entire panel may be excluded from coverage even if individual components have CPT codes.

Panel testing carries specific limitations: panel composition varies by laboratory, panels may include genes of variable penetrance, and larger panels have higher rates of variants of uncertain significance — factors that contribute to insufficient evidence of clinical utility for some panels.

Genetic tests for which evidence is insufficient to determine the effect of the technology on health outcomes are considered not medically necessary. The policy explicitly excludes tests without demonstrated clinical validity or adequate published data showing benefit.

Limitations of genetic testing that support denials include inability to detect all variants, phenotypic and genetic heterogeneity, laboratory error risks, and identification of variants of uncertain significance when clinical management pathways are not established.

When testing is covered

Diagnostic evaluation and cancer-related indications

Covered indications: Testing indicated for diagnostic evaluation of suspected hereditary disorders, confirmation of a suspected genetic diagnosis, directing targeted cancer therapy based on identified somatic variants, or assessment of future hereditary cancer risk in asymptomatic individuals when the applicable criteria are met.

Panel-specific and category-specific criteria may be implemented in the online authorization tool; panel composition and intended use vary by laboratory.

Genetic tests with demonstrated clinical validity and utility

Genetic tests with demonstrated clinical validity and utility are covered as specified in the attached coding/coverage grid — consult the grid for code- and indication-specific coverage.

Code- and indication-specific coverage: Coverage determinations are made according to the attached genetic testing codes and coverage grid; for tests listed in the grid, coverage is provided when the grid criteria and any applicable policy criteria are satisfied.

Prior authorization may be required for codes indicated in the grid; panel components represented by multiple CPT codes require individual authorization entries.

Codes, grids, and billing rules

Genetic Testing Codes (see attached grid)mixed

See attached grid

Genetic testing services codes and coverage indications effective 6/1/2024; individual CPT/PLA codes listed in attached code grid

Genetic Testing Codes and Coverage Gridmixed

See attached grid

Genetic testing service CPT/HCPCS codes and coverage indications are provided in an attached grid for Medicare Advantage and Commercial products.

Family relation requirement

RequirementOne or both individuals have a first- or second-degree relative who is affected, or one individual is a known carrier.

Prior testingPrevious carrier screening or targeted gene testing for the variant(s) of interest must not have been performed.

Population riskOne or both individuals are members of a population with an elevated carrier rate appropriate for testing.

Definition of first-degree relativeIncludes biological parent, brother, sister, or child.

What ordering providers must do

Prior Authorization

Prior Authorization Required

Authorization requests for genetic testing must be submitted by the ordering physician. For tests indicated in the coding grid, prior authorization is required for Medicare Advantage Plans and recommended for Commercial Products. Submit requests via the BCBSRI online authorization tool (available to BCBSRI-participating providers). Non-participating ordering providers may fax requests to Utilization Management at (401) 272-8885. If a genetic test is not found in the online authorization tool, fax the request to Utilization Management at (401) 272-8885. For panel testing represented by multiple CPT codes, authorization is required for each component/gene/variant: enter and process each individual CPT code independently through the online authorization tool.

Submit via BCBSRI online authorization tool (participating providers).
Fax authorization to Utilization Management: (401) 272-8885 (all other providers or tests not in the online tool).
Panel testing: enter each CPT code separately; prior authorization required per code.

Note

Consult Coding Grid and Verify Prior Authorization

Providers must verify member-specific benefits and eligibility prior to ordering genetic testing. Coverage and medical necessity may depend on the diagnosis code submitted with the claim and on criteria in the online authorization tool or related policies. Consult the attached coding grid to determine which genetic codes may be covered and whether prior authorization is indicated. If coverage depends on clinical criteria, ensure documentation meets the online authorization tool/InterQual criteria.

Member and test eligibility

Eligibility for genetic testing considered medically necessary follows the general medical criteria used in the online authorization tool. Applicable criteria include a personal or family history consistent with the test purpose and demonstration that testing will benefit the individual (for example, diagnosing a suspected hereditary disorder, confirming a suspected diagnosis, directing targeted cancer therapy based on somatic variants, or assessing future hereditary cancer risk).

Providers must consult the attached coding/coverage grid (effective 6/1/2024) to determine code‑ and indication‑specific eligibility and whether prior authorization is required for Medicare Advantage or recommended for Commercial Products.

For carrier and population screening, eligibility generally requires that one or both individuals have a first‑ or second‑degree relative who is affected or that one individual is a known carrier. Prior targeted testing for the specific variant(s) of interest should not have been performed, and membership in a population with an elevated carrier rate may be required for certain conditions.

First‑degree relatives include a biological parent, sibling, or child; family history considerations are used to determine medical necessity for screening and carrier testing.

Diagnostic testing is eligible when testing will identify a causative etiology for a clinical syndrome with multiple possible causes or confirm a suspected diagnosis in a symptomatic patient. Asymptomatic testing to determine future disease risk (including hereditary cancer risk) is eligible when criteria are satisfied in the authorization tool or coding grid.

For cancer‑related testing, eligibility includes testing to direct targeted treatment based on somatic variants or testing an asymptomatic patient to determine future cancer risk, subject to the criteria and indications in the coding/coverage grid.

Services and tests not covered

Services are not covered when there is insufficient clinical evidence, when test results are unlikely to affect clinical management, or when a specific self‑funded contract excludes the service (for example under the Biomarker Testing Mandate policy). Providers should consult the coding grid and the member’s benefit booklet to determine whether a given genetic test is excluded by contract.

When panels or tests lack demonstrated clinical validity or sufficient evidence of clinical utility, they are explicitly categorized as not covered or not medically necessary.

Tests that lack demonstrated clinical validity or sufficient evidence of clinical utility are explicitly listed as not covered (not medically necessary). The policy cites specific limitations — including high rates of variants of uncertain significance for large panels and limited published data on clinical outcomes — as reasons to deny coverage.

When published evidence is insufficient to establish that a test improves net health outcomes, BCBSRI will consider the test not medically necessary and may deny authorization or claims for those services.

Background and technical scope

Background: Molecular pathology analyzes nucleic acids to detect germline and somatic variants and HLA. Genomic sequencing procedures (GSPs), next‑generation sequencing panels, and other multianalyte assays enable simultaneous analysis of multiple genes or exome/genome regions, which can improve diagnostic breadth and efficiency but also introduce challenges.

Panels and expanded sequencing approaches increase the likelihood of identifying variants of uncertain significance (VUS), have variable panel composition across laboratories, and may include genes of high, moderate, or low penetrance. These factors contribute to uncertainty about clinical validity and utility and are central to the policy’s coverage determinations.

Key definitions

Genetic testing

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

ScopeIncludes tests for diagnostic, prognostic, and therapeutic decision-making when variants are identified.

Sample typesMay analyze nucleic acids from germline or somatic sources as relevant to the clinical question.

Carrier testing

DefinitionA carrier has one abnormal allele for a disorder; carriers are typically unaffected for autosomal recessive or X-linked disorders but may be at risk depending on inheritance.

When offeredOffered to individuals with affected family members, identified carriers in the family, or members of populations with higher carrier rates.

Policy revision history

2024-03provider_updateLatest

Provider Update published in March 2024 documenting the most recent provider communications and policy notices.

2023-11provider_update

Provider Update published in November 2023 as part of ongoing provider communications.

2023-06provider_update

OpenPayer

Medical Coverage Policy Genetic Testing Services