CurrentBlue Cross Blue Shield - Rhode IslandPolicy N/A

Medical Coverage Policy Genetic Testing Services

Defines medical necessity, prior authorization requirements, coverage limitations, and coding/administrative rules for genetic testing services (including panels, genomic sequencing, carrier testing, cancer and reproductive testing) for Blue Cross Blue Shield Rhode Island Medicare Advantage and Commercial plans.

Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyMedical Coverage Policy Genetic Testing Services

Policy CodePolicy N/A

Change TypeNo material change

Effective Date05|01

Next Review DateN/A

Key ActionSubmit authorization requests via the BCBSRI online authorization tool (participating providers) or fax to Utilization Management at (401) 272-8885; if a test is not in the online tool, fax the request.

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes noted in this update.

VariesCoverage varies by code/contract

RequiredPrior authorization for Medicare Advantage

RecommendedPrior authorization for Commercial Products

ConditionalPanel component-level authorization

Coverage Summary

Scope: This policy defines medical necessity, prior authorization requirements, coverage limitations, and coding/administrative rules for genetic testing services including panels, genomic sequencing procedures, carrier screening, cancer, and reproductive testing for BCBSRI Medicare Advantage and Commercial plans. It applies to genomic sequencing procedures (GSPs), multianalyte assays (including NGS and chromosomal microarray), and panel tests where code-level rules and contract benefits determine coverage.

Coverage stance: mixed. Coverage varies by code and contract (Varies), prior authorization is required for Medicare Advantage and recommended for Commercial products, and panel component-level authorization is conditional (panel component-level authorization noted as conditional in stats).

High-level guidance: Prior authorization must be obtained via the BCBSRI online authorization tool (participating providers) or by fax for others; benefits and which tests are covered depend on the member's contract and the specific CPT/PLA/MAAA codes submitted. For panels represented by multiple CPT codes, per-component authorization is required (each CPT entered and processed independently).

Dates and subject: Subject: Genetic Testing Services. Effective date: 05|01. Policy last reviewed: 02|21|2024.

Key policy facts

PayerBlue Cross Blue Shield - Rhode Island

PolicyMedical Coverage Policy Genetic Testing Services

SubjectGenetic Testing Services

Coverage stancemixed

Effective date05|01

Last review02|21|2024

Medical Necessity Criteria

General Criteria for Genetic/Carrier Testing

Genetic screening or testing is considered medically necessary when the diagnostic test of the individual's germline will benefit the individual and ONE of the following is met:

ANY of the following

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

General Criteria for Carrier Screening / Partner Screening / Panel Testing

Panel or carrier testing may be considered when the following general criteria are met:

ALL of the following

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.
One individual is known to be a carrier.
Previous carrier screening or individual targeted gene testing for the gene variant(s) of interest has not been performed.
One or both individuals are members of a population known to have carrier rate that exceeds threshold considered appropriate for testing for a particular condition.

Genetic Testing for Cancer

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

ANY of the following

Testing therapeutic of cancer cells from an affected individual to benefit the individual by directing targeted treatment based on specific somatic variants.
Testing an asymptomatic patient to determine future risk of cancer.

Panel Testing Authorization Requirement

Panel authorization rules for tests represented by multiple CPT codes:

ALL of the following

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

Not Medically Necessary / Not Covered

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

ANY of the following

There is insufficient clinical evidence or strength of recommendation.
Services are unlikely to impact therapeutic decision-making in the clinical management of the patient.
Results would not reasonably be used in management of a patient.
When there is not enough research to show that a gene and/or gene variant alone in a genetic panel test may be useful for guiding management and to improve net health outcomes; then the entire genetic test is considered not covered (Medicare Advantage) and not medically necessary (Commercial).

Provider Actions & Administrative Rules

Prior Authorization

Authorization required via online tool or fax

Requests for authorization of genetic testing should be submitted via the BCBSRI online authorization tool (available to participating providers); non-participating providers may fax requests to Utilization Management at (401) 272-8885. If a genetic test is not found in the online tool, fax authorization request to Utilization Management.

Prior Authorization

Panel testing CPT-level authorization

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

Documentation Required

Ordering physician must obtain authorization

Laboratories or third parties are not allowed to obtain clinical authorization or participate in the authorization process on behalf of the ordering physician; only the ordering physician shall be involved in authorization, appeals, and documentation of clinical appropriateness.

Denial Risk

Denial if unauthorized

If a laboratory provides a laboratory service that has not been authorized, the service will be denied and may have financial responsibility implications for the provider or member.

Billing Rule

Benefits vary by contract

Benefits and coverage (including which genetic tests are covered, medically necessary, or not covered) vary between groups/contracts; refer to the member Benefit Booklet, Evidence of Coverage, or Subscriber Agreement for applicable genetic benefits.

Coding

Coding / Coverage Grid (referenced)mixed

No codes listed

When a panel test is represented by multiple CPT codes, authorization is required for each component and/or gene/gene variant; each individual CPT code must be entered into and processed through the online authorization tool independently.

Providers should submit authorization requests via the BCBSRI online authorization tool (participating providers) or fax Utilization Management at (401) 272-8885 if not participating or if the test is not found in the online tool. Laboratories or third parties may not obtain clinical authorization on behalf of the ordering physician; the ordering physician must complete authorization and related administrative processes.

Background & Evidence Context

Background: Molecular pathology procedures analyze nucleic acids (DNA, RNA) to detect germline or somatic variants and inform diagnosis, prognosis, therapeutic selection, or histocompatibility testing. Code selection is typically based on the specific gene(s) analyzed.

Genomic Sequencing Procedures (GSPs) and other molecular multianalyte assays (including next-generation sequencing [NGS], massive parallel sequencing, and chromosomal microarray) simultaneously assay multiple genes or regions and may target panels, the exome, or whole genome. These technologies enable analysis of many genes at once and have increased availability of multigene panels for inherited disorders, cancer, and reproductive testing.

Analytic and clinical validity: While limited direct comparisons exist, concordance between NGS and Sanger sequencing has been reported as >99% for several indications. However, newer sequencing methods were initially associated with higher error rates and panels can generate large amounts of ancillary information of uncertain significance.

Variants of uncertain significance (VUS) are common and increase with panel size, approaching nearly 50% for large gene panels. Clinical validity and clinical utility of panels are condition-specific; many panels include variants with variable penetrance and limited clinical management guidance, and published data are lacking to demonstrate improved health outcomes for some panel uses.

Panel composition is not standardized: different commercial products for the same condition may test different gene sets and panel contents can change over time as new variants are discovered. These factors contribute to variable evidence for clinical outcomes and potential harms when clinical management pathways are not well defined.

Evidence highlights

Concordance NGS vs SangerReported >99% concordance for certain tests

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

Term	Definition
First-degree relative	Biological parent; brother, sister, or child.
Carrier testing	Analysis to identify a person with one abnormal allele for a disorder; used in autosomal recessive/X-linked or autosomal dominant contexts as described.
Germline variants	Variants present in DNA of every cell and can be passed to offspring.
Somatic variants	Variants limited to specific cells acquired over time and generally not passed to offspring.

OpenPayer

Medical Coverage Policy Genetic Testing Services

Coverage Summary

Medical Necessity Criteria

Provider Actions & Administrative Rules

Coding

Background & Evidence Context

Definitions

Medicare Local Coverage Determinations

Revision History