Biomarker Testing / Genetic & Molecular Testing Coverage Criteria
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Governs state-mandated coverage, medical necessity, and prior authorization requirements for biomarker and genetic/molecular tests for BCBSRI Commercial Products and Medicare Advantage Plans.
No material clinical or coverage changes in this revision.
Coverage Criteria and Medical Necessity
Carrier screening criteria
Covered when criteria are met as specified below; InterQual/online authorization tool criteria often used.
First-degree relatives include biological parent, brother, sister, or child; second-degree relatives include grandparent, aunt/uncle, niece/nephew, grandchild, and half-sibling.
Genetic/hereditary testing criteria
Genetic screening/testing for hereditary conditions when germline testing will benefit the individual:
Germline testing must be likely to benefit the individual by informing diagnosis, prognosis, or management.
Cancer-related testing
Genetic testing for cancer:
Panel tests represented by multiple CPTs require per-component authorization; panels lacking evidence for individual genes may render the entire panel not covered for Medicare Advantage and not medically necessary for Commercial Products.
Panel testing policy
Panel testing coverage stance:
For panels filed with specific individual CPT codes, refer to the Coding section; panel composition is variable and determined by the testing laboratory.
General medical necessity
Coverage depends on clinical validity and clinical utility specific to the condition and test context.
Evidence of analytical and clinical validity and demonstrated clinical utility is required; panel composition and clinical relevance vary by laboratory and over time.
Not medically necessary
Not medically necessary criteria:
Such tests are excluded from coverage until evidence supports clinical validity and utility; whole panels may be NMN if individual components lack evidence.
Some genetic testing services may be contractually excluded for self-funded groups that have chosen to exclude the expanded coverage of biomarker testing under R.I.G.L. §27-19-81. Providers should review the member's Benefit Booklet for plan-specific exclusions and refer to the Coding section and related policies to determine whether a requested test is covered, not medically necessary, or excluded for that member.
A genetic panel is defined as a test that simultaneously evaluates multiple genes (for example, via NGS, massive parallel sequencing, or chromosomal microarray). The policy expressly excludes panels that report on gene expression profiling, since those assays generally do not directly evaluate genetic variants.
Services determined to be not medically necessary or services that are medically necessary but are non‑covered benefits (for example, due to a plan's contractual exclusions) are excluded from coverage. Benefits and eligibility are governed by the member's subscriber agreement or employer agreement, which supersede this policy; providers should contact the provider call center or review the member's Benefit Booklet for member‑specific determinations.
Testing is considered not medically necessary when there is insufficient published evidence or strength of recommendation, when results would not reasonably be used in patient management, or when findings are unlikely to affect therapeutic decision‑making. In particular, panels or tests lacking adequate evidence of clinical validity or utility are excluded until sufficient evidence demonstrates they change management or improve health outcomes.
When a genetic panel contains one or more genes or variants for which evidence is insufficient to guide clinical management, the policy states that the entire genetic panel may be considered not covered for Medicare Advantage and not medically necessary for Commercial Products. Tests with extremely limited published data or insufficient clinical validity are considered not medically necessary.
If a service is determined to be not medically necessary or is a non‑covered benefit, laboratories and providers must follow authorization requirements. Per policy, if a laboratory provides a service that was not authorized, the service will be denied as the financial liability of the participating laboratory and may not be billed to the member. Providers may not charge members for non‑covered services unless the member was informed and provided written agreement in advance.
Covered Indications and Use Cases
Diagnosis, treatment, appropriate management, or ongoing monitoring when test provides clinical utility
Covered when the test result provides clinical utility as defined by statute and this policy and directly informs diagnosis, treatment, appropriate management, or ongoing monitoring.
Refer to online authorization tool or attached coding grids for test- and indication-specific criteria.
Carrier screening covered conditions
Carrier screening is covered under the following circumstance sets when ALL criteria below are met:
First- and second-degree relationships defined in policy.
Population risk thresholds are condition-specific; refer to guidance in authorization tool.
Prior testing for the specific variants would preclude coverage of repeat testing for the same targets.
Covered uses
Covered uses include tests that provide actionable clinical information in the contexts below:
May include single-gene tests or focused panels when clinically indicated.
Panel testing may be appropriate when phenotype is nonspecific and multiple genes are implicated.
Refer to NCCN and other guideline-based criteria as applicable; prior authorization/authorization tool criteria apply.
Per policy, per-component authorization is required for panels represented by multiple CPT codes; refer to coding grids.
Member and Test Eligibility Requirements
Eligibility for carrier screening requires that one or more of the following be met: a first‑ or second‑degree relative is affected by the condition; one individual is a known carrier; or one or both individuals belong to a population with an elevated carrier rate appropriate for testing. Additionally, previous carrier screening or targeted testing for the specific gene/variant must not have been performed.
Carrier testing may be offered to individuals who have family members with a genetic condition, family members identified as carriers, or who are members of ethnic or racial groups with a higher carrier rate for a particular condition. First‑degree relatives include biological parent, sibling, or child; second‑degree relatives include grandparent, aunt/uncle, niece/nephew, grandchild, and half‑sibling.
More generally, eligibility for genetic testing is established when testing will provide clinical utility to the individual — for diagnosis, to clarify a clinical syndrome, to determine hereditary cancer risk, or to guide treatment and monitoring — and when analytical and clinical validity and clinical utility are supported by evidence or authoritative guidance.
Coding, CPT/HCPCS/PLA and Coverage Grids
| PLA codes | Proprietary Laboratory Analyses codes for proprietary clinical laboratory tests (PLA/ADLT/CDLT) when available; PLA takes precedence over other CPT codes for the same service. |
| Molecular pathology and GSP/NGS codes | CPT codes based on specific gene(s) analyzed and genomic sequencing procedures (GSPs)/NGS methods; code selection typical for molecular pathology and genomic sequencing. |
| See attached grids | Medicare Advantage and Commercial Products coverage grids for biomarker testing codes (MAAA, PLA, pathology/laboratory codes). |
| Topic-specific HCPCS/PLA groupings | Multiple topic headings listed (e.g., circulating tumor DNA, gene expression profiling, whole exome/genome sequencing, next generation sequencing for solid tumors, multianalyte assays with algorithmic analyses, liquid biopsy, multicancer early detection testing, and many other topic-specific lists) — see attached grids for specific codes. |
Provider Actions, Prior Authorization, and Billing Guidance
Prior Authorization Requirements
Prior authorization review may be required for Medicare Advantage Plans and recommended for Commercial Products in accordance with the Biomarker Testing Mandate. For services with prior authorization indicated in the attached code grids, prior authorization is required for Medicare Advantage Plans and recommended for Fully‑Funded Commercial Products unless an exemption below applies.
- For Medicare Advantage Plans: prior authorization is required when indicated on the attached coding grids.
- For Commercial Products: prior authorization is recommended; Fully‑Funded Commercial Products have a PCP exemption effective 2025-10-01 (see PCP exemption callout).
- Panel testing: when a panel is represented by multiple CPT codes, prior authorization is required for each CPT code — enter each CPT individually in the online authorization tool.
Submission Route and Ordering‑Provider Responsibilities
Requests for authorization of biomarker testing should be submitted via the BCBSRI online prior authorization tool (available to BCBSRI‑participating providers). If a test or CPT code is not found in the online tool, fax the prior authorization request to Utilization Management at (401) 272-8885. Laboratories are not permitted to obtain authorization on behalf of the ordering physician — only the ordering physician may initiate authorization, appeals, or provide necessary documentation.
- Submission route: BCBSRI online prior authorization tool for participating providers; fax to Utilization Management (401) 272-8885 if not available online.
- Panel testing submission: enter each individual CPT code separately into the online tool and process each component independently.
- Provider action: only the ordering physician may handle authorizations/appeals; laboratories and their representatives must not submit or facilitate authorizations.
PCP Exemption (Fully‑Funded Commercial Products)
Effective 2025-10-01, for Fully‑Funded Commercial Products only, prior authorization requests may not be needed when the requesting physician is a BCBSRI contracted Primary Care Provider credentialed in one of the following specialties: Internal Medicine; Pediatric Medicine; Family Practice; Obstetrics and Gynecology; Doctor of Osteopathic Medicine; NP (Nurse Practitioner)/PCP; PA (Physician Assistant). This exemption does not apply to Self‑Funded Commercial Products or Medicare Advantage Plans.
- Exemption applies only to Fully‑Funded Commercial Products and only when the ordering provider is a BCBSRI‑contracted PCP in the listed specialties.
- No step‑therapy is specified as part of this PCP exemption.
- Prior authorization remains required for all other Commercial Products and Medicare Advantage Plans.
Coding Grid and Coverage Reference
Refer to the attached coding grids for Medicare Advantage Plans and Commercial Products for details on which HCPCS/PLA/MAAA and pathology/laboratory codes require prior authorization, which codes are covered when criteria are met, and which are not medically necessary or not covered. Use the grids to determine diagnosis code requirements and related policy references.
- Coding grid requirement: see attached grids for HCPCS/PLA/MAAA, pathology/lab codes, and CPT code coverage indicators.
- Provider action: consult the grids to confirm whether prior authorization is required, recommended, or not applicable for a given code and member plan.
- Tests lacking demonstrated clinical utility are identified in the grids and may be flagged as Not Medically Necessary (NMN) or Not Covered.
Prior Authorization, Benefit Verification, and Financial Liability
For member‑specific benefit and eligibility determinations, contact the provider call center. If services are determined to be not medically necessary or non‑covered, do not bill the member unless the member has been informed in writing and has agreed in advance to assume financial responsibility.
- Prior authorization / benefit verification: contact the provider call center for member‑specific benefit information before ordering tests.
- Member financial liability: services determined NMN or non‑covered may result in denial and potential member liability if the member provided prior written consent to pay.
- Unauthorized lab services: if a laboratory provides a service that has not been authorized, the service may be denied and financial liability may fall to the participating laboratory (not the member).
Not Covered and Excluded Tests
When individual genes or variants within a panel lack sufficient evidence of clinical utility, the policy treats entire genetic panels as not covered for Medicare Advantage and not medically necessary for Commercial Products. For Medicare Advantage coverage determinations and commercial product medical necessity, providers must assess whether individual gene testing (rather than a broad panel) is appropriate given the available evidence.
Tests that lack demonstrated clinical utility or have insufficient evidence of clinical validity are considered not medically necessary. The policy cites examples where very limited published data preclude determination of an effect on health outcomes, and thus such tests are excluded from coverage until evidence supports clinical validity and utility.
Definitions
Background
Biomarker testing encompasses analysis of tissue, blood, or other biospecimens for biomarkers (for example, gene mutations or protein expression) and includes single‑analyte tests, multiplex panels, genomic sequencing procedures (GSPs/NGS), chromosomal microarray, whole exome/genome sequencing, circulating tumor DNA assays, proprietary laboratory analyses (PLA), and multianalyte assays with algorithmic analyses (MAAA). Panel composition is variable and determined by the laboratory; panels do not include gene expression profiling under this policy.
Revision History and Policy Updates
Policy effective date updated to 2026-08-01.
Clinical policy last reviewed on 2026-04-15.
Effective 2025-10-01, fully-funded Commercial Products may exempt BCBSRI-contracted PCPs from prior authorization for biomarker testing.
NCCN guideline reference cited (accessed 2023-07-21) added to references supporting genetic/familial high-risk assessment guidance.
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