Genetic Testing Services
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Defines medical necessity, prior authorization, and coverage stance for genetic and molecular testing services for BCBSRI Medicare Advantage and Commercial products, including panel testing and multianalyte assays.
No material clinical or coverage changes in this revision.
Coverage Criteria
General genetic testing medical necessity
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.
General germline testing criteria from policy; used by online authorization tool.
Carrier screening (preconception or prenatal)
Covered when ALL of the following are met:
First- and second-degree relatives defined in policy.
Genetic testing for cancer
Considered medically necessary when any of the following are met:
Includes both germline cancer risk assessment and somatic tumor profiling to guide therapy.
Medical Necessity Requirement
Covered when clinical utility and clinical validity are demonstrated; conversely tests with insufficient evidence are not covered.
Per‑test coverage and code‑level determinations are provided in the referenced coding spreadsheet effective 6/1/2026.
Genetic testing services are not covered for Medicare Advantage Plans and are considered not medically necessary for Commercial Products when any of the following apply: there is insufficient clinical evidence or strength of recommendation; test results would not reasonably be used in the management of the patient; or the service is unlikely to impact therapeutic decision-making in the clinical care of the member. Some services may also be excluded for specific self‑funded groups per their benefit booklets and the state Biomarker Testing Mandate exceptions — refer to the Coding section and the applicable Benefit Booklet for plan‑specific coverage.
Laboratories and third parties are not permitted to obtain prior authorization or otherwise participate on behalf of the ordering physician; only the ordering physician may complete authorization, appeals, or related administrative processes. Services provided without required authorization may be denied and assessed as the financial responsibility of the providing laboratory or entity.
Tests for which there is insufficient published data or an insufficient evidence base demonstrating clinical validity are considered not medically necessary. When available evidence does not establish that the test reliably identifies a clinically meaningful variant or that the result will inform management to improve health outcomes, the test will not be covered.
Entire genetic panel tests are considered not covered for Medicare Advantage Plans and not medically necessary for Commercial Products when there is insufficient evidence that the panel as composed leads to improved health outcomes, or when one or more genes/variants in the panel lack evidence of clinical utility. For panel tests represented by individual CPT codes, coverage determinations are made per the attached code grid and the PLA/MAAA policy as applicable.
The policy identifies that several tests lack demonstrated clinical utility due to extremely limited published data or insufficient evidence of clinical validity; such tests are considered not medically necessary. Where evidence is inadequate to determine effects on health outcomes, the tests are excluded from coverage.
Covered Indications
Diagnostic confirmation, etiologic diagnosis, asymptomatic risk assessment, cancer risk assessment, somatic tumor profiling to direct targeted therapy
Genetic testing is covered for the following clinical indications when the general medical necessity requirements are met:
Apply prior authorization and per‑test criteria from the online tool and attached code grid as applicable.
Genetic tests with demonstrated clinical utility and validity for specified indications as listed in external coding & coverage spreadsheet
Coverage for specific genetic tests and codes is determined by demonstrated clinical utility and validity and is listed in the external coding and coverage spreadsheet.
See attached grid for which codes may be covered, medically necessary if criteria are met, not medically necessary, or not covered.
Eligibility Requirements
Eligibility for genetic testing requires that the test be expected to benefit the individual and meet the applicable medical‑necessity criteria in the online authorization tool or this policy (for example, diagnostic confirmation, etiologic diagnosis of a clinical syndrome, asymptomatic risk assessment, or cancer‑related indications). Specific eligibility nodes and per‑test requirements are implemented in the authorization tool and external coding grid referenced in this policy.
For carrier screening (preconception or prenatal), coverage requires that one or more of the following be present: a first‑ or second‑degree relative affected by the condition, one individual known to be a carrier, or membership in a population with an elevated carrier rate; additionally, previous carrier screening or targeted testing for the variant(s) of interest must not have been performed. Other eligibility elements (family history, prior testing, and indication‑specific criteria) are implemented through the online authorization criteria sets and the attached coding spreadsheet.
Coding
| PLA/MAAA | Proprietary Laboratory Analyses and Multianalyte Assays with Algorithmic Analyses referenced; see separate PLA/MAAA Policy |
| See attached spreadsheet | Genetic Testing Codes and Coverage Effective 6/1/2026 (external XLSX referenced) |
Provider Actions & Requirements
Prior authorization required for MA; recommended for Commercial (see attached spreadsheet)
For those tests indicated in the attached code grid, prior authorization is required for Medicare Advantage Plans and recommended for Commercial Products; for Fully-Funded Commercial Products only, contracted BCBSRI primary care providers may be exempt effective 10/1/2025. See the attached external coding spreadsheet for per-test determinations.
- Prior authorization required for Medicare Advantage when indicated in the attached code grid.
- Prior authorization recommended for Commercial Products when indicated in the attached code grid.
- Exemption: Effective 10/1/2025, contracted PCPs for Fully-Funded Commercial Products may not need prior authorization.
Authorization and coverage tied to external code grid (see attached spreadsheet)
Coverage and prior authorization requirements are tied to an external coding grid: the attached spreadsheet specifies which genetic testing codes may be covered, medically necessary if criteria are met, not medically necessary, or not covered for Medicare Advantage and Commercial products effective 6/1/2026.
- Refer to the external spreadsheet (Genetic Testing Codes and Coverage Effective 6/1/2026) for code-level coverage and authorization requirements.
- Some tests' medical necessity is determined by the diagnosis code submitted with the claim per the attached grid.
Provider must follow authorization and documentation processes as specified
Ordering providers must follow the policy's authorization and documentation processes exactly as stated; any additional or alternative administrative requirements are not specified in this segment.
Step therapy: none specified
No step therapy requirements are specified in this portion of the policy.
Submit authorizations via BCBSRI online tool; panels require per‑CPT entry
Submit authorization requests using the BCBSRI online prior authorization tool (available to BCBSRI-participating providers); providers not in the online tool must fax requests to Utilization Management at (401) 272-8885. For panel testing represented by multiple CPT codes, prior authorization is required for each component/CPT code and must be entered and processed independently.
- Use BCBSRI online prior authorization tool when available to the provider.
- Fax prior authorization requests to Utilization Management at (401) 272-8885 if the provider cannot use the online tool or the test is not found online.
- For panels represented by multiple CPT codes, submit prior authorization for each individual CPT code separately.
Verify member benefits and obtain consent before billing for non‑covered services
Verify member benefits and eligibility prior to testing. Do not charge members for services determined not medically necessary unless the member has been informed and provided written agreement to pay out-of-pocket in advance.
- Confirm member-specific benefits and eligibility via provider call center or member documents.
- Obtain written informed agreement before billing a member for services that are not medically necessary.
Labs/third parties may not obtain or facilitate authorization or appeals
Laboratories and third parties are prohibited from obtaining or facilitating prior authorization or appeals on behalf of the ordering physician; if a laboratory or third party supports any portion of the authorization process, BCBSRI will deem it a violation and may take severe action, and services provided without authorization will be denied as the laboratory's financial liability.
- Only the ordering physician shall be involved in authorization, appeal, or other administrative processes related to prior authorization/medical necessity.
- If a laboratory provides a service that has not been authorized, the service will be denied and billed as the financial liability of the participating laboratory.
Insufficient evidence (clinical utility/validity) may lead to denial
Tests that lack demonstrated clinical utility or have insufficient evidence of clinical validity are considered not medically necessary and may be denied.
- Entire genetic panel tests may be not covered when there is insufficient evidence that the panel improves health outcomes.
- Tests with extremely limited published data or insufficient evidence of clinical validity are considered not medically necessary.
Ordering physician must submit authorizations and follow code‑level guidance
Ensure the ordering physician submits any required prior authorization and follows policy requirements; follow the external code grid and online tool instructions for documentation and code entry.
- Ordering physician is responsible for submitting prior authorization requests.
- Follow the external coding grid for per-test requirements and claim coding guidance.
Ordering physician must submit prior authorization; PCP exemption for contracted PCPs (10/1/2025)
The ordering physician must submit prior authorization requests; for Fully-Funded Commercial Products only (effective 10/1/2025), contracted BCBSRI primary care providers in listed specialties may be exempt from prior authorization requirements for certain tests.
- Ordering physician is responsible for prior authorization submission.
- PCP exemption (effective 10/1/2025) applies to credentialed specialties listed in the policy for Fully-Funded Commercial Products only.
Not Covered / Not Medically Necessary
Panels or tests that lack sufficient evidence of clinical utility are not covered for Medicare Advantage and are considered not medically necessary for Commercial Products. When a panel cannot be shown to improve net health outcomes, the entire panel is excluded; per‑code determinations for panels filed with specific CPT codes are available in the policy's coding grid and the PLA/MAAA policy.
Tests that do not demonstrate clinical utility or lack sufficient evidence of clinical validity are explicitly considered not covered (Medicare Advantage) or not medically necessary (Commercial Products). The policy states that when evidence is inadequate to determine the impact on health outcomes, coverage is denied.
Background
Molecular pathology and genomic sequencing procedures analyze DNA and RNA to detect germline or somatic variants and to guide testing selection based on specific genes or regions. Next‑generation sequencing‑based panels, exome, genome, and other multianalyte assays may assay multiple genes or regions and panel composition varies by laboratory; clinical validity and clinical utility are condition‑specific. The policy notes limitations of genetic testing including possible failure to detect all variants, identification of variants of uncertain significance, genetic and phenotypic heterogeneity, and potential laboratory error, all of which affect interpretation and clinical application.
Definitions
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