DraftBlue Cross Blue Shield - Rhode IslandPolicy N/A

Biomarker and Genetic/Molecular Testing Coverage and Prior Authorization

Know when Blue Cross Blue Shield - Rhode Island releases new policies or updates existing guidance.

Governs coverage, medical necessity, and prior authorization requirements for biomarker and genetic/molecular testing for BCBSRI Commercial Products and Medicare Advantage Plans in accordance with the Rhode Island biomarker testing mandate. Affects ordering providers, laboratories, and covered members.

Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyBiomarker and Genetic/Molecular Testing Coverage and Prior Authorization

Policy CodePolicy N/A

Change TypeNo material change

Effective DateSep 1, 202643d

Last ReviewMay 20, 2026

Next Review DateMay 20, 2026

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

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

Commercial onlyMandate applies to Commercial Products

09/01/2026Policy effective date

Required for MAPrior authorization for MA

Exemption 10/01/2025PCP prior auth exemption (Commercial)

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RestrictedPanel test restrictions

Coverage and Medical Necessity Criteria

Medical necessity criteria

Covered when ALL of the following (category-specific) criteria are met or when criteria in the online authorization tool are satisfied

General categories

Carrier screening: One or both individuals have a first- or second-degree relative who is affected; OR one individual is a known carrier; OR one or both individuals are members of a population with a high carrier rate; AND previous carrier screening or targeted testing for the variant(s) of interest has not been performed.
First-degree: parent, sibling, child. Second-degree: grandparent, aunt/uncle, niece/nephew, grandchild, half-sibling.
Genetic screening/testing for hereditary conditions: Testing is medically necessary when any of the following are met: to confirm a suspected diagnosis in a symptomatic patient; to identify a causative etiology for a clinical syndrome with multiple possible underlying conditions; or testing an asymptomatic individual to determine future disease risk.
Genetic testing for cancer: Testing is medically necessary when any of the following are met: testing an asymptomatic patient to determine future risk of cancer; or therapeutic testing of tumor (somatic) specimens to direct targeted treatment based on specific somatic variants.

Panel testing coverage determination

Panel testing limitation: If there is insufficient evidence that an individual gene or gene variant within a genetic panel provides clinical utility to guide management and improve net health outcomes, then the entire genetic panel test is considered not covered for Medicare Advantage Plans and not medically necessary for Commercial Products.

Each component CPT for a multi-code panel requires separate prior authorization processing.

General coverage criteria for panel and genetic testing

Covered when ALL of the following context-dependent conditions are met (general statements in this section):

Panel test appropriateness: Testing is intended to address a specific clinical question — for example, to establish whether a clinical diagnosis is hereditary, to determine a specific variant, or to classify a tumor or guide treatment; panel composition and clinical utility must be appropriate to that clinical context.

Supported by intended uses for panels

Analytic/Clinical validity: Clinical validity and clinical utility are condition-specific; tests lacking sufficient evidence of clinical validity or utility are considered not medically necessary.

Supported by discussion of clinical validity, utility, and limitations

Coding/coverage alignment: Coverage and medical necessity determinations depend on the specific procedure codes and indication as listed in the attached HCPCS/PLA/MAAA/code grids; refer to those grids for code-level coverage and prior authorization requirements.

See coding sections and grids

Some employer-sponsored plans are self-funded and may have contract exclusions that limit or remove coverage for expanded biomarker testing. For those groups, coverage determinations for genetic testing services (including which services require prior authorization, which are considered not medically necessary, or which are excluded) are governed by the member’s specific benefit booklet and employer agreement rather than this policy.

Tests that lack demonstrated clinical utility or have insufficient evidence of clinical validity are considered not medically necessary. When published data are extremely limited or do not establish a likely effect on health outcomes, the test will be treated as not medically necessary under this policy.

If a service is determined to be not medically necessary or is a non-covered benefit under a member’s plan, the provider may not charge the member for that service unless the provider has informed the member in advance and obtained the member’s written agreement to accept financial responsibility. Additionally, services furnished by a laboratory that were not properly authorized will be denied as the financial liability of the participating laboratory and may not be billed to the member.

A test is not medically necessary when there is insufficient clinical evidence or strength of recommendation, when results would not reasonably be used in patient management, or when the service is unlikely to affect therapeutic decision-making. For multi-gene panels, if individual genes or variants within the panel lack demonstrated clinical utility to guide management, the panel may be considered not medically necessary or not covered.

There are specific tests for which published evidence is extremely limited or absent; when the evidence does not support clinical validity or utility, those tests are considered not medically necessary. The policy treats such tests as unsupported because available studies are insufficient to determine their effect on patient health outcomes.

When services are determined to be not medically necessary or are non-covered benefits under the member’s plan, they may be denied and providers may not bill members unless the member has been informed and provided written consent in advance. Providers should confirm member-specific benefits because the subscriber or employer agreement controls coverage and supersedes this policy.

Indications Covered When Medical Necessity Met

Diagnosis, treatment, appropriate management, or ongoing monitoring when test provides clinical utility as demonstrated by evidence (FDA, CMS, guidelines)

Evidence-based clinical utility: Testing is medically necessary when results (germline or somatic) provide clinical utility supported by medical/scientific evidence, FDA labeling, CMS NCD/LCD determinations, or nationally recognized guidelines/consensus statements, and when the result will affect diagnosis, treatment, ongoing management, or monitoring for the individual.

Clinical utility definition and references support this requirement

Carrier screening when carrier/family history or population risk and prior testing considerations are met

Carrier screening indications: Covered when ALL of the following are met: one or both individuals have a first- or second-degree relative affected; OR one individual is a known carrier; OR one or both individuals belong to a population with a higher carrier rate for the condition; AND previous carrier screening or targeted testing for the variant(s) of interest has not been performed.

References and practice resources support expanded carrier screening; see definitions for relative degrees.

Coding and Reporting Guidance

Coding and reporting guidancemixed

PLA codes	Proprietary Laboratory Analyses codes (PLA) for proprietary tests, ADLTs/CDLTs; PLA takes precedence when available.
CPT multi-code panels	Panel tests represented by multiple CPT codes must have each individual CPT code entered and prior authorized independently.

Genetic Testing and Biomarker HCPCS/PLA/MAAA codesHCPCS | PLA | MAAA

HCPCS

See attached HCPCS code grids for MAAA, Pathology/Lab, and PLA codes and coverage determinations.

Special test categoriesmixed

Whole Exome / Whole Genome

Whole exome and whole genome sequencing for diagnosis of genetic disorders (see attached grids).

Carrier screening indications

Indications (summary)Carrier screening (preconception or prenatal) is considered medically necessary when one or more of the following apply: one or both individuals have a first- or second-degree relative affected; one individual is a known carrier; one or both individuals are members of a population with an elevated carrier rate for the condition.

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

Degree definitionsFirst-degree relatives: biological parent, brother, sister, or child. Second-degree relatives: grandparent, aunt/uncle, niece/nephew, grandchild, or half-sibling.

Coding grids

Coverage determinationCoverage status varies by specific biomarker/genetic testing codes as listed in the attached Medicare Advantage and Commercial code grids; refer to those grids for whether a code may be covered, medically necessary if criteria are met, not medically necessary, or not covered.

Provider Responsibilities and Authorization Procedures

Note

Provider Responsibilities — Overview

Summary of required provider actions related to prior authorization, documentation, and member billing. Providers must verify member benefits, follow the authorization process, and avoid charging members for services determined to be not medically necessary or non‑covered unless a written agreement exists.

Verify member benefits and eligibility prior to ordering testing.
Follow the BCBSRI prior authorization process for Medicare Advantage and Commercial Products as indicated.
Do not bill members for services denied as not medically necessary or non‑covered unless a signed, advance written agreement exists.

Prior Authorization

How to Request Prior Authorization

For services with prior authorization indicated in the attached code grids, prior authorization is required for Medicare Advantage Plans and recommended for Commercial Products. Requests must be submitted via the BCBSRI online prior authorization tool for BCBSRI‑participating providers. Non‑participating providers and any requests not available in the online tool should fax prior authorization requests to Utilization Management at (401) 272-8885.

Services Not Covered or Not Medically Necessary

Panel tests that include individual genes or variants without demonstrated clinical utility are considered not covered for Medicare Advantage Plans and not medically necessary for Commercial Products. Coverage for panel testing and any panel represented by component CPT/PLA/HCPCS codes is determined by the coding grids referenced in the policy; each CPT component of a multi-code panel requires separate prior authorization entry and review.

Tests with insufficient clinical validity or with extremely limited published evidence of clinical utility are considered not medically necessary and may be denied. Where the evidence does not establish a likely improvement in health outcomes, those tests are not covered under this policy.

Services that the policy explicitly determines to be not medically necessary, or benefits that are designated non‑covered according to the member’s plan documents, may be excluded from payment. For self‑funded groups with contract exclusions, the group’s benefit booklet and employer agreement determine coverage scope and supersede this policy.

Member and Test Eligibility

Eligibility for coverage of genetic testing varies by test category and is defined by the medical necessity criteria in this policy and in the online authorization tool. For carrier screening, eligibility requires that one or both individuals have a first‑ or second‑degree relative affected, be a known carrier, or belong to a population with a higher carrier rate, and that prior targeted testing for the variant(s) of interest has not been performed.

For diagnostic or hereditary testing, eligibility is determined by whether testing addresses a specific clinical question (for example, confirming a suspected diagnosis, identifying the causative variant, or clarifying a phenotype with a broad differential) and whether the test result is expected to inform management, monitoring, or treatment decisions as supported by clinical evidence or guidelines.

Eligibility and coverage decisions also depend on the specific billing codes and indications listed in the attached coding grids. Providers must refer to those grids and the online authorization tool to determine whether prior authorization is required and whether the member’s diagnosis and prior testing meet policy criteria.

Background

Biomarker testing encompasses analysis of a patient’s tissue, blood, or other biospecimen for indicators such as gene mutations or protein expression and includes single‑analyte tests, multi‑gene panels, and whole exome/genome sequencing. Clinical utility is defined as a test result that informs treatment or monitoring strategies and impacts clinical decision‑making. While panels can increase diagnostic breadth and efficiency, they may also yield variants of uncertain significance and their clinical validity and utility are condition‑specific.

Definitions

Biomarker

DefinitionA biomarker is a characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a specific therapeutic intervention; examples include gene mutations or protein expression.

ContextBiomarkers are the analytes assessed by biomarker testing and are referenced in state statute definitions governing coverage.

Actionable noteBiomarkers may inform diagnosis, prognosis, or treatment selection when demonstrated to have clinical utility.

Biomarker testing

DefinitionBiomarker testing is the analysis of a patient's tissue, blood, or other biospecimen for the presence of a biomarker and includes single-analyte tests, multi-plex panel tests, and whole genome sequencing.

Scope

Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyBiomarker and Genetic/Molecular Testing Coverage and Prior Authorization

Policy CodePolicy N/A

Change TypeNo material change

Effective DateSep 1, 202643d

Last ReviewMay 20, 2026

Next Review DateMay 20, 2026

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

SourceLink

On This Page

Diagnosis of hereditary disorders, phenotype evaluation, cancer panels and tumor profiling

Covered when criteria are met and clinical utility is demonstrated; indication and utility vary by panel composition and evidence.

Hereditary disorder diagnosis: Testing is medically necessary when used to confirm a suspected hereditary diagnosis in a symptomatic individual or to determine whether a condition is hereditary and/or identify the specific variant.

Panel composition must be appropriate to the clinical question

Phenotype evaluation with broad differential: Testing is medically necessary when evaluating a clinical syndrome with multiple potential genetic causes to help establish a specific diagnosis.

Panels may improve breadth/efficiency but may yield variants of uncertain significance

Cancer panels and tumor profiling: Testing is medically necessary when assessing for hereditary cancer syndromes in unaffected individuals or when performing somatic tumor profiling to inform cancer type/subtype and select targeted therapy.

Intended uses for cancer panels vary by indication

Preconception and prenatal expanded carrier screening; hereditary cancer risk assessment using multigene panels

Covered when supported by cited systematic reviews, practice resources, or guideline recommendations (e.g., ACMG, NCCN) and when clinical utility for the intended use is demonstrated.

Preconception/prenatal expanded carrier screening: Expanded carrier screening panels are covered when clinical indications are met (see carrier screening criteria) and when use is consistent with cited systematic reviews and practice resources supporting pan-ethnic or expanded approaches.

Supported by referenced systematic reviews and ACMG practice resource

Hereditary cancer risk assessment using multigene panels: Multigene hereditary cancer panels are covered when guideline-based indications are met (for example as described in nationally recognized guidelines) and when results will inform risk assessment, management, or treatment decisions.

Supported by cited evaluations of multigene panel clinical actionability and guidelines

Prior authorization mappingThe attached grids indicate which HCPCS/PLA/MAAA codes require prior authorization for Medicare Advantage Plans and which are recommended or exempt for Commercial Products.

Granularity for multi-code panelsWhen panel testing is represented by multiple CPT components, each CPT code/component must be entered and prior authorized separately per the coding grids and policy guidance.

BCBSRI online prior authorization tool — preferred for participating providers.
Fax prior authorization requests to Utilization Management: (401) 272-8885 when online tool entry is not available or for non‑participating providers.
Panel testing: enter each individual CPT code representing components/genes into the online tool and process independently.

Billing Rule

Code-Level Authorization

Coverage and prior authorization expectations are determined by the attached coding grids for Medicare Advantage Plans and Commercial Products. Refer to the coding grids to determine whether a code is covered, not covered, or requires prior authorization and to identify any diagnosis‑specific requirements.

See attached coding grids for MA and Commercial coverage and PA status.
Diagnosis coding on the claim may determine medical necessity for some biomarker tests — review the Comments column on the grids.

Denial Risk

Denial for Insufficient Evidence

Tests lacking sufficient clinical evidence or demonstrated clinical utility may be denied as not medically necessary. Providers should ensure documentation supports clinical utility and that submitted evidence meets the criteria in the online authorization tool or policy references.

Services supported by insufficient evidence or without demonstrated clinical utility may be denied.
If denied for insufficient evidence, denial reasons will cite lack of demonstrated clinical utility or insufficient clinical validity.

Denial Risk

Member Charging and Denial Risk

If a laboratory provides a laboratory service that has not been authorized, the service will be denied as the financial liability of the participating laboratory and may not be billed to the member. In addition, providers may not charge members for services determined to be not medically necessary or non‑covered unless the member has been informed and has agreed in writing in advance to accept financial responsibility.

Laboratories may not obtain authorization on behalf of the ordering physician; unauthorized lab services will be denied as lab financial liability.
Providers may not bill members for denied/non‑covered services unless there is an advance written agreement from the member.

Documentation Required

Provider Actions — Ordering Physician Responsibilities

The ordering physician must be involved in the authorization and appeal processes. Laboratories and their representatives are prohibited from obtaining authorization or participating in the authorization or appeal on behalf of the ordering physician. Violations may result in severe actions, including termination from the BCBSRI provider network.

Only the ordering physician may initiate authorizations or appeals; labs and third parties may not act on their behalf.
If a lab supports any portion of the authorization process improperly, BCBSRI may take severe action up to network termination.

Note

Verify Member Benefits

Verify member benefits and eligibility before ordering or submitting claims. For member‑specific benefit determinations, contact the provider call center.

Call the provider call center for member‑specific benefit and eligibility information.
Confirm product type (e.g., Fully‑Funded Commercial, Self‑Funded, Medicare Advantage) to determine PA exemptions or requirements.

Billing Rule

Coding Grid Reference

See the attached coding grids for specific code coverage status, medical necessity criteria, and prior authorization expectations for both Medicare Advantage Plans and Commercial Products.

Refer to coding grids for MA and Commercial indicating coverage and PA expectations.

Includes single-analyte tests, multiplex panels, and large-scale genomic assays as specified in the statute.

UsePerformed to detect gene mutations, protein expression, or other indicators that may impact clinical decision-making.

Clinical utility

DefinitionClinical utility means the test result provides information used in formulation of a treatment or monitoring strategy that informs a patient's outcome and impacts clinical decision-making.

ImplicationA test may include some information not immediately actionable, but clinical utility is judged by whether results inform management decisions.

Coverage relevanceClinical utility is required to establish medical necessity for biomarker and genetic testing under this policy.

Panel

DefinitionA genetic panel is a test that simultaneously evaluates multiple genes (as opposed to sequential single-gene testing), performed by methods such as next-generation sequencing (NGS), massive parallel sequencing, or chromosomal microarray analysis.

ExclusionPanel definition excludes gene expression profiling panels that do not directly evaluate genetic variants.

Variation notePanel composition is not standardized; different laboratories and products may include different gene sets and compositions may change over time.

Carrier Testing

DefinitionCarrier testing identifies individuals who carry a single abnormal allele for a genetic disorder and is offered to those with family members affected, known carriers in the family, or members of ethnic/racial groups with higher carrier rates.

Indication linkageCarrier screening is medically necessary when criteria are met, including family history, known carrier status, elevated population carrier rate, and lack of prior targeted testing.

Inheritance contextCarriers are typically unaffected for autosomal recessive or X-linked disorders but may be affected or at risk for autosomal dominant conditions.

Germline Variants

DefinitionGermline variants are genetic alterations present in the DNA of every cell from conception and may be transmitted to offspring, including variants present in gonadal cells.

Clinical implicationDetection of germline variants can inform reproductive risk and hereditary disease diagnosis.

ContrastGermline variants differ from somatic variants, which arise later and may not be heritable.

Somatic Variants

DefinitionSomatic variants arise over time in specific cells or cell lines and, if limited to non-gonadal cells, are not passed on to offspring.

Use caseSomatic variant testing is commonly used in tumor profiling to guide cancer subtype classification and targeted therapy selection.

ContrastSomatic variants are distinguished from germline variants by their acquired and often tissue-restricted nature.

Pharmacogenomics

DefinitionPharmacogenomics studies how a person's genetic makeup affects drug response.

ApplicationPharmacogenomic testing can inform medication selection and dosing when genetic variants affect drug metabolism or response.

ScopeConsidered a category of biomarker testing when genetic variants inform therapeutic decisions.

Expanded carrier screening

DefinitionExpanded carrier screening refers to screening multiple genes or panels for autosomal recessive and X-linked conditions in preconception and prenatal settings.

Evidence baseExpanded carrier screening and its clinical utility are discussed in cited systematic reviews and practice resources (see references such as Wang et al. and ACMG practice resources).

Policy noteCoverage and applicability of expanded carrier screening depend on the policy's carrier screening criteria (family history, known carrier, population risk) and prior testing requirements.

Catch payer policy changes before they impact reimbursement