CurrentBlue Cross Blue Shield - Rhode IslandPolicy N/A

Medical Coverage Policy — Genetic Testing Services

Defines coverage, prior authorization, medical necessity, and coding guidance for genetic and molecular testing services for BCBSRI Medicare Advantage and Commercial products.

Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyGenetic Testing Services (Medical Coverage Policy)

Policy CodePolicy N/A

Change TypeNo material changes

Effective DateJan 1, 2025

Next Review DateSep 18, 2024

Key ActionSubmit prior authorization requests via the BCBSRI online authorization tool (fax to Utilization Management at (401) 272-8885 if not participating).

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

Prior auth (MA)Authorization requirement for Medicare Advantage Plans

Online toolPrimary submission route

Each CPT separatePanel testing entry

VUS ≈50%High VUS rate

GridCoding matrix

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Coverage and Medical Necessity Criteria

General Medical Necessity Criteria

Covered when ALL of the following are met (general criteria used in the online authorization tool):

Carrier/screening criteria: One or both individuals have a first- or second-degree relative who is affected OR one individual is a known carrier; previous carrier screening or targeted testing for the variant(s) of interest has not been performed; one or both individuals are members of a population with an elevated carrier rate.

Used for carrier and population-based screening.

Diagnostic or predictive testing: Testing is performed to identify a causative etiology for a clinical syndrome with multiple possible underlying conditions, to confirm a suspected diagnosis in a symptomatic patient, OR to determine future risk in an asymptomatic individual.

Applies to germline testing.

Cancer-related testing: For cancer, testing is medically necessary when used to guide targeted treatment based on somatic variants OR to determine future risk of cancer in an asymptomatic patient.

Includes somatic tumor profiling when results direct therapy.

Medically Necessary Genetic Testing

Covered when ALL of the following are met

Evidence-based validity and utility: The test has demonstrated clinical validity and sufficient evidence of clinical utility for the requested indication.evidence present

Tests lacking demonstrated clinical validity or sufficient published evidence are considered not medically necessary.

Coding/authorization compliance: The service is billed with codes indicated as covered in the payer coding grid and meets any prior authorization requirements specified in that grid.codes on grid and PA obtained if required

See the attached coding grid for Medicare Advantage and Commercial products; panel components require authorization for each CPT entered independently.

Coverage for genetic testing differs by product. For Medicare Advantage Plans, prior authorization is required for tests indicated in the attached coding grid and authorization must be entered for each component/CPT in a panel independently. For Commercial products, authorization is recommended for tests in the grid. Coverage and medical necessity depend on meeting the general clinical criteria in the online authorization tool and on billing with codes shown as covered in the payer coding grid.

Tests that lack demonstrated clinical validity or have extremely limited published data are considered not medically necessary. When published evidence is insufficient to establish that a test reliably predicts a clinical condition or meaningfully affects patient management, the test may be denied as not medically necessary.

Genetic tests and panels with insufficient published evidence or inadequate demonstration of clinical validity are considered not medically necessary. Laboratories are not permitted to obtain authorization on behalf of the ordering physician; services provided without required authorization may be denied and, per policy, may be billed to the laboratory.

There is insufficient evidence that some genetic tests improve health outcomes. When clinical validity or clinical utility cannot be established from the published literature, the test is considered to have insufficient evidence to support use and is therefore not medically necessary.

When Genetic Testing Is Covered

Diagnostic, Confirmatory, Predictive, and Cancer-Related Indications

Diagnostic evaluation: Testing to identify a causative etiology for a clinical syndrome when there are multiple possible underlying conditions.

Used when germline testing will benefit diagnosis/management.

Confirmation of suspected diagnosis: Testing to confirm a suspected diagnosis in a patient with signs and/or symptoms of the condition.

Applies to symptomatic patients.

Assessment of future disease risk: Testing an asymptomatic individual to determine future risk of disease.

Includes hereditary cancer risk assessment.

Cancer testing to guide therapy or assess hereditary risk: For cancer, testing is medically necessary when used to direct targeted treatment based on somatic variants OR to determine future risk of cancer in an asymptomatic patient.

Includes somatic tumor profiling when results are used to direct therapy.

Indications Specified in Attached Coding Grid

Indication-specific coverage: Coverage for specific genetic tests and codes depends on the indication-specific criteria listed in the attached coding/coverage grid.

Refer to the attached grid to determine which codes are covered, medically necessary if criteria met, not medically necessary, or not covered; prior authorization requirements are specified in that grid.

Authorization and Provider Responsibilities

Prior Authorization

Prior Authorization Required

Authorization is required for tests indicated in the attached coding grid for Medicare Advantage plans and is recommended for Commercial products. Submit authorization requests via the BCBSRI online authorization tool (available to participating providers). Non‑participating providers or requests for tests not found in the online tool should fax requests to Utilization Management at (401) 272-8885. For panel testing represented by multiple CPT codes, authorization is required for each component/gene — each individual CPT code must be entered and processed through the online authorization tool independently.

BCBSRI online authorization tool (participating providers)
Fax to Utilization Management: (401) 272-8885 (non-participating providers or tests not in the online tool)
Panel testing: enter and authorize each CPT code separately

Billing Rule

Ordering Physician Responsibility — No Third‑Party Authorizations

Only the ordering physician shall be involved in authorization, appeals, or any administrative processes related to authorization and medical necessity. A laboratory, third party, or any representative must not obtain authorization on behalf of the ordering physician. If a laboratory or third party supports or facilitates any portion of the authorization process (including preparation of documentation) on behalf of the ordering physician, BCBSRI will consider this a violation and may take severe actions up to termination from the BCBSRI provider network. If a laboratory provides a laboratory service that was not authorized, the service will be denied and the financial liability rests with the participating laboratory; such services may not be billed to the member.

Only the ordering physician may request or appeal authorizations
Unauthorized third‑party/ lab-obtained authorizations are violations and may result in termination
Unauthorized lab services are denied and payable by the performing laboratory, not the member

Denial Risk

Insufficient Evidence May Trigger Denial

Genetic tests lacking sufficient evidence of clinical validity or clinical utility — based on extremely limited published data or insufficient evidence — will be considered not medically necessary and may be denied. Providers should ensure documentation demonstrates clinical validity and utility per the criteria in the online authorization tool and related BCBSRI policies when requesting coverage.

Tests with insufficient published evidence of clinical validity/utility = not medically necessary (denial risk)
Provide supporting clinical documentation in the authorization request per online tool criteria

Documentation Required

Coding and Documentation Required

Use the attached coding grid to determine which genetic codes require prior authorization, which may be covered if criteria are met, and which are not medically necessary or not covered. Document the specific CPT/HCPCS codes and clinical indications when submitting authorization requests.

Refer to attached coding grid for coverage status by code
Document specific codes and clinical rationale in the authorization submission

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.

Scope — analytesIncludes chromosomes, DNA, RNA, genes, and gene products.

Scope — variant typesDetects both inherited (germline) and noninherited (somatic) genetic variants.

Carrier Testing

DefinitionA carrier has one abnormal allele for a disorder; in autosomal recessive or X-linked disorders carriers are typically unaffected, and carrier testing identifies individuals with a single abnormal allele.

Who is offered testingCarrier testing may be offered to people with family members who have a genetic condition, to family members who are identified carriers, and to members of ethnic or racial groups with higher carrier rates.

Relation to screening criteriaCarrier screening criteria require one or both individuals to have an affected first- or second-degree relative or known carrier status.

Germline Variants

DefinitionGermline variants are present in the DNA of every cell of the body from conception and include cells in the gonads; they can be transmitted to offspring.

Timing and distributionPresent from the moment of conception and found in all body cells, including reproductive cells.

Heritability implicationBecause germline variants are in gonadal cells, they can be passed to offspring.

Somatic Variants

DefinitionSomatic variants arise over time and are restricted to specific cell(s) or tissues derived from them; if limited to non‑gonadal cells, they are not passed to offspring.

Acquired vs inheritedSomatic variants are acquired during life rather than inherited at conception.

Transmission noteSomatic variants are not transmitted to offspring unless present in gonadal cells.

Pharmacogenomics

DefinitionPharmacogenomics studies how a person’s genetic makeup affects their body’s response to drugs.

Clinical purposeUsed to inform drug selection and dosing based on genetic variants that influence pharmacokinetics or pharmacodynamics.

Test typesIncludes testing for gene variants that alter medication metabolism or response (pharmacogenomic testing).

Variant of Uncertain Significance (VUS)

DefinitionVariant of uncertain significance (VUS): a genetic variant for which the clinical significance is unknown based on current evidence.

ImplicationVUS results may not determine clinical outcome and require cautious interpretation; testing may identify VUS and methods may not detect all variants.

Policy relevanceHigh VUS rates (noted for large panels) and uncertainty in clinical validity can affect medical necessity determinations.

OpenPayer

Medical Coverage Policy — Genetic Testing Services

Coverage and Medical Necessity Criteria

When Genetic Testing Is Covered

Coding and Billing Guidance

Authorization and Provider Responsibilities

Tests and Panels Not Covered

Patient and Family Eligibility Requirements

Background and Context

Definitions

Policy Revision History