CurrentBlue Cross Blue Shield - Rhode IslandPolicy N/A

Medical Coverage Policy | Genetic Testing Services

Defines coverage, medical necessity criteria, and prior authorization requirements for genetic testing services (germline and somatic) for Blue Cross & Blue Shield of Rhode Island Medicare Advantage Plans and Commercial Products, including panel testing and molecular pathology/NGS considerations.

Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyMedical Coverage Policy | Genetic Testing Services

Policy CodePolicy N/A

Change TypeNo material change

Effective DateJan 1, 2024

Next Review Date

Key ActionSubmit prior authorization requests via the BCBSRI online prior authorization tool (or fax to Utilization Management at 401-272-8885 when not available) and enter each CPT code separately for multi-code panel tests.

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes identified in this brief (has_material_change=false).

MultipleCoverage varies by code and indication

2024Effective date year

0Explicit policy number

Coverage Summary

Defines coverage, medical necessity criteria, and prior authorization requirements for genetic testing services (germline and somatic), including molecular pathology and next-generation sequencing. Coverage stance: mixed.

Medical‑Necessity Criteria

General genetic testing medical necessity

Genetic screening or testing is considered medically necessary when ALL of the following contexts apply and ONE of the listed reasons is met:

ALL of the following

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

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title": "General genetic testing medical necessity

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Carrier screening (preconception or prenatal testing)

Carrier screening is considered medically necessary when ONE of the following is met:

ANY of the following

One or both individuals have a first- or second-degree relative who is affected
First-degree: biological parent, brother, sister, or child; Second-degree: biologic grandparent, aunt, uncle, niece, nephew, grandchildren, and halfsibling.
One individual is known to be a carrier
One or both individuals are members of a population known to have a carrier rate that exceeds a threshold considered appropriate for testing for a particular condition

Genetic testing for cancer

ANY of the following

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

Panel testing

Panel tests are subject to additional criteria and prior authorization rules:

ALL of the following

Panel testing prior 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 and processed independently in the online authorization tool
See Prior Authorization section: each CPT code must be entered and processed through the online authorization tool independently.
If a gene/gene variant in a panel lacks sufficient evidence that it can be used to manage treatment decisions and improve net health outcomes, the entire genetic panel test is considered not covered for Medicare Advantage Plans and not medically necessary for Commercial Products
When there is not enough research to show that a gene and/or gene variant alone in a genetic panel test may be used to manage treatment decisions and improve net health outcomes, the entire panel is considered not covered/not medically necessary.

Not Covered / Not Medically Necessary

Not covered / Not medically necessary

ANY of the following

Services with insufficient clinical evidence or strength of recommendation
Results would not reasonably be used in management of a patient
Services unlikely to impact therapeutic decision-making in the clinical management of the patient
Genetic panels where there is not enough research to show that a gene and/or gene variant alone in a genetic panel test may be used to manage treatment decisions and improve net health outcomes (entire panel considered not covered / not medically necessary)

Provider Actions & Authorization

Prior Authorization

Prior authorization required / recommended

Prior authorization must be obtained for tests listed in the code grid: required for Medicare Advantage Plans and recommended for Commercial Products. Submit requests via the BCBSRI online prior authorization tool (available to participating providers) or fax to Utilization Management at (401) 272-8885 when the test is not in the tool or the provider is not in the tool.

Online prior authorization tool (BCBSRI participating providers)
Fax: Utilization Management (401) 272-8885
Medicare Advantage: prior authorization required
Commercial Products: prior authorization recommended

Prior Authorization

Panel testing authorization entry

When a panel test is represented by multiple CPT codes, each individual CPT code must be entered into and processed through the online authorization tool independently.

Each CPT in a multi-code panel must be entered and processed independently in the online authorization tool

Documentation Required

Use of InterQual or CMS criteria

Medicare Advantage policies follow applicable CMS National and Local Coverage Determinations; if those determinations do not specify medical necessity criteria, InterQual criteria may be used and are accessible in the online authorization tool.

Medicare Advantage: follow CMS NCDs/LCDs
When CMS criteria are unspecified, InterQual may be used
InterQual criteria available in the online authorization tool

Billing Rule

Laboratory authorization prohibition

Laboratories or their representatives are not permitted to obtain prior authorization or participate in the authorization process on behalf of the ordering physician; if a laboratory provides a service that was not authorized, the service will be denied and the participating laboratory may be financially liable.

Only the ordering physician may obtain authorization or participate in appeal/authorization processes
Unauthorized lab-provided services will be denied and may be the financial liability of the laboratory

Background & Evidence

Genetic testing can guide diagnosis, prognosis, risk assessment, and treatment decisions for both symptomatic and asymptomatic individuals. Technologies include molecular pathology, next-generation sequencing (NGS)/massively parallel sequencing, chromosomal microarray, germline and somatic testing, carrier testing, and pharmacogenomics.

Panel tests can improve efficiency by evaluating multiple genes simultaneously but panel composition is highly variable across laboratories and over time. Newer sequencing techniques have enabled broad panels but may introduce additional uncertain findings.

Limitations include that testing methods may not detect all variants, laboratory error is possible, and many identified variants have uncertain clinical consequences. Expanded panels increase the frequency of variants of uncertain significance (VUS), approaching nearly 50% for large gene panels.

For many panels, published evidence of clinical utility is limited; clinical management pathways are not well-defined for moderate- or low-penetrance genes, and there is insufficient evidence that some panels improve net health outcomes.

Key evidence points

NGS vs Sanger concordance>99% reported concordance in several publications for cancer susceptibility testing, inherited disorders, and hereditary hearing loss

VUS rate for large panelsNearly 50% for large gene panels

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

Second-degree relative: biologic grandparent, aunt, uncle, niece, nephew, grandchildren, and halfsibling.

Genetic panel: a test that simultaneously evaluates multiple genes (includes panels performed by NGS, massive parallel sequencing, and chromosomal microarray analysis; excludes gene expression profiling).

OpenPayer

Medical Coverage Policy | Genetic Testing Services

Coverage Summary

Medical‑Necessity Criteria

Not Covered / Not Medically Necessary

Provider Actions & Authorization

Coding

Background & Evidence

Medicare Determinations

Revision History