CurrentBlue Cross Blue Shield - Rhode IslandPolicy N/A

Medical Coverage Policy Genetic Testing Services

Defines coverage, medical necessity criteria, prior authorization requirements, and exclusions for genetic testing services (including panels, genomic sequencing, carrier testing, germline and somatic testing) for Blue Cross Blue Shield - Rhode Island Medicare Advantage and Commercial products.

Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyMedical Coverage Policy Genetic Testing Services

Policy CodePolicy N/A

Change TypeNo material change

Effective DateApr 1, 2025

Next Review Date

Key ActionSubmit authorization requests via the BCBSRI online authorization tool or fax to Utilization Management at (401) 272-8885; panel components must be entered and authorized per individual CPT code and only the ordering physician may obtain authorization.

SourceLink

POLICY UPDATE CHANGES

No material clinical/coverage changes

conditionalCoverage depends on criteria/authorization

panelPanel tests require per-CPT authorization

variesBenefits vary by contract/group

Coverage Summary

This policy addresses coverage for Genetic Testing Services (including panels, genomic sequencing, carrier testing, germline and somatic testing) for Blue Cross & Blue Shield of Rhode Island products. Coverage is conditional and depends on meeting the policy's stated medical necessity criteria, prior authorization requirements, and contract/group benefit rules. It applies to both Medicare Advantage and Commercial payer products, with specific authorization requirements and exclusions described in the policy.

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Medical Necessity Criteria

General Medical Necessity Criteria

Genetic screening or tests for genetic or hereditary conditions is considered medically necessary when the diagnostic test of the individual's germline will benefit the individual and ONE of the following criteria is met:

General Medical Necessity Criteria - top level any

Identify causative etiology: To identify a causative etiology for a clinical syndrome for which there are multiple possible underlying conditions
Confirm suspected diagnosis: To confirm a suspected diagnosis in a patient with signs and/or symptoms of the condition
Asymptomatic risk testing: To test an asymptomatic individual to determine future risk of disease

Cancer-related Genetic Testing

Genetic testing for cancer is considered medically necessary when ONE of the following criteria is met:

Cancer-related Genetic Testing - top level any

Somatic testing to direct targeted treatment: Testing of cancer cells from an affected individual to direct targeted treatment based on specific somatic variants (therapeutic benefit)
Asymptomatic testing for future cancer risk: Testing an asymptomatic patient to determine future risk of cancer

Carrier Screening / Reproductive Screening

General criteria used in the online authorization tool when specific criteria not identified for test requested (panel testing subject to additional criteria): Covered when ALL of the following are met:

Carrier Screening / Reproductive Screening - top level all

First- or second-degree relative affected: One or both individuals have a first- or second-degree relative who is affected
First-degree relatives include a biological parent; brother, sister, or child.
Known carrier: One individual is known to be a carrier
Previous testing not performed: Previous carrier screening or individual targeted gene testing for the gene variant(s) of interest has not been performed

Not Medically Necessary / Not Covered

Genetic testing services are not covered for Medicare Advantage Plans and not medically necessary for Commercial Products when ANY of the following apply:

Not Medically Necessary / Not Covered - top level any

Insufficient evidence: There is insufficient clinical evidence or strength of recommendation
Unlikely to impact therapeutic decision-making: Services are unlikely to impact therapeutic decision-making in the clinical management of the patient
Results not reasonably used in management: Results would not reasonably be used in management of a patient
Gene/variant not shown to guide management: The gene and/or gene variant alone in a genetic panel is not shown to be useful for guiding management or improving net health outcomes (entire panel considered not covered in that case)

Provider Actions & Authorization

Prior Authorization

Authorization required for indicated tests

For tests indicated in the attached code grid, authorization is required for Medicare Advantage Plans and recommended for Commercial Products; requests should be submitted via BCBSRI online authorization tool or faxed to Utilization Management at (401) 272-8885.

Submit requests via the BCBSRI online authorization tool (available to BCBSRI-participating providers).
Fax requests to Utilization Management at (401) 272-8885.

Prior Authorization

Panel authorization per CPT component

Panel authorization is required for each component and/or gene/gene variant of panel testing when represented by multiple CPT codes; each individual CPT code must be entered and processed independently through the online authorization tool.

Each individual CPT code must be entered and processed independently.

Documentation Required

Ordering physician must submit authorization

Only the ordering physician may be involved in authorization, appeal, or administrative processes; laboratories or third parties may not obtain authorization on behalf of the ordering physician and unauthorized services provided by a participating laboratory will be denied and not billed to the member.

Laboratories or third parties may not obtain authorization on behalf of the ordering physician; unauthorized services provided by a participating laboratory will be denied and may not be billed to the member.

Billing Rule

Coverage determined by diagnosis code

For some tests, medical necessity and coverage is determined by the diagnosis code submitted with the claim; refer to code grid and Comments column for diagnosis coding guidance.

See the attached code grid and the Comments column for guidance on diagnosis coding related to coverage determination.

Operational note: Medicare Advantage and Commercial product rules differ — for tests indicated in the code grid, authorization is required for Medicare Advantage Plans and recommended for Commercial Products. Benefits and coverage may vary by group/contract; providers must verify the member's specific benefit booklet, evidence of coverage, or subscriber agreement and confirm authorization requirements for the member's plan prior to testing.

Background

Background: Molecular pathology procedures analyze nucleic acids (DNA, RNA) to detect germline or somatic variants, and include genomic sequencing procedures (GSPs) and other molecular multianalyte assays that simultaneously assay multiple genes or regions. GSPs commonly use massively parallel/next-generation sequencing (NGS) and may target specific genes, the exome, or the genome. Panel testing (multigene/NGS panels) can improve efficiency by analyzing many genes simultaneously and may be less costly in some cases, but panel composition varies by laboratory and changes over time. Analytic validity of many NGS panels approaches that of direct (Sanger) sequencing, with reported concordance >99% in some settings; however, NGS yields more variants of uncertain significance (VUS), and VUS rates increase with panel size (approaching nearly 50% for large panels). Clinical validity and clinical utility of panels are condition-specific and depend on whether identified variants have established links to disease and clear management pathways; where evidence is insufficient, services may be considered not medically necessary.

Evidence items

Concordance NGS vs SangerReported >99% for certain tests (cancer susceptibility, inherited disorders, hereditary hearing loss)

VUS rateVariants of uncertain significance increase with panel size, reaching nearly 50% for large gene panels

Definitions / Glossary:

• First-degree relative: Biological parent, brother, sister, or child.

• Genetic testing: Analysis of chromosomes, DNA, RNA, genes, or gene products to detect inherited (germline) or noninherited (somatic) genetic variants related to disease or health.

• Carrier: Person with one abnormal allele for a disorder; may be unaffected for autosomal recessive or X-linked disorders.

• Germline variants: Variants present in the DNA of every cell, including gonads, that can be passed to offspring.

• Somatic variants: Variants restricted to specific cells/tissues that are not passed to offspring if not present in gonads.

• Pharmacogenomics: Study of how a person’s genetic makeup affects drug response.

Document Type/Name	Number
Molecular Pathology Procedures	L35000
LCD Reference Article: Molecular Pathology Procedures	456199

OpenPayer

Medical Coverage Policy Genetic Testing Services

Coverage Summary

Medical Necessity Criteria

Provider Actions & Authorization

Coding

Background

Medicare Determinations

Revision History