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Biomarker and Genetic/Molecular Testing Coverage and Prior Authorization
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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.
No material clinical or coverage changes in this revision.
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
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):
Supported by intended uses for panels
Supported by discussion of clinical validity, utility, and limitations
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)
Clinical utility definition and references support this requirement
Carrier screening when carrier/family history or population risk and prior testing considerations are met
References and practice resources support expanded carrier screening; see definitions for relative degrees.
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.
Panel composition must be appropriate to the clinical question
Panels may improve breadth/efficiency but may yield variants of uncertain significance
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.
Supported by referenced systematic reviews and ACMG practice resource
Supported by cited evaluations of multigene panel clinical actionability and guidelines
Coding and Reporting Guidance
| 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. |
| HCPCS | See attached HCPCS code grids for MAAA, Pathology/Lab, and PLA codes and coverage determinations. |
| Whole Exome / Whole Genome | Whole exome and whole genome sequencing for diagnosis of genetic disorders (see attached grids). |
Provider Responsibilities and Authorization Procedures
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.
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.
- 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.
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 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.
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.
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.
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.
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.
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
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