CurrentBlue Cross Blue Shield - Rhode IslandPolicy N/A

Genetic Testing Services (Genetic & Molecular Testing Coverage Criteria)

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Policy governing medical necessity, prior authorization, and coverage determinations for genetic and molecular testing services for BCBSRI members, affecting ordering providers and participating laboratories.

Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyGenetic Testing Services (Genetic & Molecular Testing Coverage Criteria)

Policy CodePolicy N/A

Change TypeNo material changes

Effective DateApr 1, 2026

Next Review DateN/A

Key ActionSubmit prior authorization requests through the BCBSRI online prior authorization tool (fax to Utilization Management if not in the tool).

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

Medicare AdvantagePlans requiring prior authorization

04/01/2026Policy effective date

Per-CPT auth requiredPanel testing rule

AvailableCoding grid

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CurrentBlue Cross Blue Shield - Rhode IslandPolicy N/A

Genetic Testing Services (Genetic & Molecular Testing Coverage Criteria)

Customize your policy alerts

Sign up for all Blue Cross Blue Shield - Rhode Island policy alerts

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

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Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyGenetic Testing Services (Genetic & Molecular Testing Coverage Criteria)

Policy CodePolicy N/A

Change TypeNo material changes

Effective DateApr 1, 2026

Next Review DateN/A

Key ActionSubmit prior authorization requests through the BCBSRI online prior authorization tool (fax to Utilization Management if not in the tool).

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

Medicare AdvantagePlans requiring prior authorization

04/01/2026Policy effective date

Per-CPT auth requiredPanel testing rule

AvailableCoding grid

MultipleRelated policies

Coverage Criteria and Limitations

Medical necessity criteria — Genetic testing may be considered medically necessary when the following criteria are met depending on test category and context

Genetic testing may be considered medically necessary when the following criteria are met depending on test category and context:

Carrier screening (preconception or prenatal): Covered when ALL of the following are met: (1) 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 an elevated carrier rate for the condition, AND (2) previous carrier screening or individual targeted gene testing for the gene variant(s) of interest has not been performed.see policy for degree of relation and population carrier rate

First-degree relatives include a biological parent, brother, sister, or child. Second-degree relatives include a biologic grandparent, aunt, uncle, niece, nephew, grandchild, or half-sibling.

Genetic testing for cancer: Considered medically necessary when either: testing an asymptomatic patient to determine future cancer risk OR therapeutic (somatic) testing of cancer cells to direct targeted treatment based on specific somatic variants.N/A

General medical necessity — General coverage stance and limitations

General coverage stance and limitations

General coverage prerequisites: Genetic tests are considered medically necessary when clinical validity and clinical utility are demonstrated; tests lacking demonstrated clinical utility or sufficient clinical validity are considered not medically necessary.

Specific code- and indication-level criteria are provided in the referenced coding grid.

Services that are not covered include genetic tests with insufficient clinical evidence or strength of recommendation, tests whose results would not reasonably be used in the management of a patient, and tests that are unlikely to impact therapeutic decision-making in clinical management. For Commercial Products some genetic testing services may be contract exclusions for self-funded groups per the state Biomarker Testing Mandate policy; see the Coding section and the member's Benefit Booklet for plan-specific coverage details.

Tests that have extremely limited published data or insufficient evidence demonstrating clinical validity are considered not medically necessary because the available evidence is inadequate to determine their effect on health outcomes.

When a genetic panel test lacks sufficient research showing that the panel or an individual gene/variant on the panel is useful for guiding patient management and improving net health outcomes, the entire panel is considered not covered for Medicare Advantage Plans and not medically necessary for Commercial Products. For panel tests that are reported using specific CPT codes, refer to the policy's code grid and the PLA/MAAA policy for code-level determinations.

Specific tests that lack demonstrated clinical utility or have insufficient clinical validity are explicitly considered not medically necessary. These determinations reflect insufficient evidence that the test improves clinical management or health outcomes and therefore such tests are not eligible for coverage.

Indications Considered Covered

Covered indications — Carrier screening when specified family history, known carrier status, or high population carrier rate and no prior targeted testing; germline testing to confirm diagnosis, identify etiology, or assess future disease risk; cancer genetic testing for risk assessment or somatic testing to guide targeted therapy.

Carrier screening when family history, known carrier status, or high population carrier rate: Carrier screening (preconception or prenatal) is covered when 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 carrier rate that exceeds a threshold appropriate for testing, AND previous carrier screening or targeted testing for the gene/variant(s) of interest has not been performed.population carrier rate exceeds threshold considered appropriate for testing

First- and second-degree relatives defined per policy.

Germline testing to confirm diagnosis or assess future risk: Germline genetic testing is considered medically necessary when testing will benefit the individual and is being used to confirm a suspected diagnosis in a symptomatic patient, to identify a causative etiology for a clinical syndrome with multiple possible underlying conditions, or to test an asymptomatic individual to determine future disease risk.N/A

Coding and Code-Level Guidance

Referenced code categories and guidancemixed

PLA/MAAA

Proprietary Laboratory Analyses and Multianalyte Assays with Algorithmic Analyses referenced; see separate PLA/MAAA policy for PLA codes

Genetic testing codes (referenced external grid)mixed

see spreadsheet

Genetic Testing Codes and Coverage Effective 4/1/2026 (external Excel grid lists CPT/HCPCS/etc. and coverage status)

Carrier screening population threshold

Threshold descriptionOne 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.

ContextApplied to carrier screening (preconception or prenatal) to determine when screening is medically necessary.

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

Family history linkageCarrier screening also considered when one or both individuals have a first- or second-degree relative who is affected.

Reference for implementationSpecific population carrier-rate thresholds and degree-of-relation definitions are implemented in the online authorization tool per policy guidance.

Provider Requirements and Prior Authorization

Prior Authorization

Prior authorization required for Medicare Advantage; panel-level CPTs require per-code auth

For those tests indicated in the attached code grid, prior authorization is required for Medicare Advantage Plans and recommended for Commercial Products. Panel testing requires prior authorization for each component and/or gene/gene variant when the panel is represented by multiple CPT codes; each individual CPT code must be entered into and processed through the online authorization tool independently.

Prior authorization required for Medicare Advantage; recommended for Commercial Products.
Panel testing: authorization required per component/CPT when multiple CPTs represent a panel.

Prior Authorization

PCP exemption for Fully‑Funded Commercial Products effective 10/1/2025

Effective 10/1/2025, for Fully‑Funded Commercial Products only, prior authorization requests may not be needed when the requesting physician is a BCBSRI‑contracted Primary Care Provider in an included specialty (Internal Medicine, Pediatric Medicine, Family Practice, Obstetrics and Gynecology, Doctor of Osteopathic Medicine, NP/PCP, PA). Prior authorization continues to be required for all other Commercial Products and Medicare Advantage Plans.

Services Not Covered / Not Medically Necessary

Panels that do not demonstrate clinical utility or that would not change patient management are not covered for Medicare Advantage Plans and not medically necessary for Commercial Products. For panels represented by multiple CPT codes, prior authorization and coverage are determined at the per-CPT code level according to the policy's coding grid.

Tests without demonstrated clinical utility or with insufficient clinical validity are explicitly considered not medically necessary (not covered). The policy treats such tests as lacking sufficient evidence to impact clinical outcomes and therefore ineligible for coverage under the stated product lines.

Definitions

Genetic Testing

DefinitionAnalysis of chromosomes, DNA, RNA, genes, or gene products to detect inherited (germline) or noninherited (somatic) genetic variants related to disease or health.

ScopeIncludes germline and somatic testing methods used for diagnosis, prognosis, and treatment selection.

Common technologiesMay include sequencing (NGS/MPS), genomic sequencing procedures, multigene panels, and chromosomal assays.

Carrier Testing

DefinitionTesting to identify individuals who carry one abnormal allele for a disorder; often offered when family members have a genetic condition or when individuals belong to higher-risk populations.

IndicationsMay be offered to people with affected family members, identified carriers in the family, or members of ethnic/racial groups with higher carrier rates.

Background

Genetic testing analyzes chromosomes, DNA, RNA, genes, or gene products to detect inherited (germline) or acquired (somatic) variants used to guide diagnosis, prognosis, and therapy selection. These services include single-gene tests, multigene panels, genomic sequencing procedures (GSPs), and multianalyte assays with algorithmic analyses (MAAAs); panel composition and clinical validity vary by laboratory and condition.

Member Eligibility Requirements

Eligibility requirements for genetic testing (e.g., family history criteria, prior testing prerequisites, and any product-specific limits) are specified in the policy's medical necessity criteria and the attached coding grid. Providers should consult the online prior authorization tool and the Genetic Testing Codes and Coverage spreadsheet for code- and indication-specific eligibility rules.

Providers must follow the policy's stated prerequisites for coverage: confirm applicable family-history or prior-testing requirements, ensure the requested test meets medical necessity criteria, and obtain any required prior authorization per product type and the coding grid. See the online authorization tool and the attached Genetic Testing Codes and Coverage effective 4/1/2026 for details.

Revision History

2026-01-01provider_updateLatest

Provider Update published (January/February 2026).

2025-11-01provider_update

Provider Update published (November 2025).

2025-09-01provider_update

Policy Summary

PayerBlue Cross Blue Shield - Rhode Island

PolicyGenetic Testing Services (Genetic & Molecular Testing Coverage Criteria)

Policy CodePolicy N/A

Change TypeNo material changes

Effective DateApr 1, 2026

Next Review DateN/A

Key ActionSubmit prior authorization requests through the BCBSRI online prior authorization tool (fax to Utilization Management if not in the tool).

SourceLink

On This Page

Panels are subject to additional criteria; see Policy Statement and Prior Authorization sections.

Cancer genetic testing and somatic testing: Genetic testing for cancer is considered medically necessary when testing an asymptomatic patient to determine future cancer risk OR when therapeutic testing of cancer cells (somatic testing) directs targeted treatment based on specific somatic variants.N/A

Therapeutic somatic testing must be expected to benefit the individual by directing targeted treatment.

Coverage and indication-specific determinations are made per the external genetic testing codes and coverage spreadsheet.

Code- and indication-level determinations: Coverage and medical necessity determinations for specific genetic testing codes and indications are made per the external Genetic Testing Codes and Coverage spreadsheet (Genetic Testing Codes and Coverage Effective 4/1/2026).

Refer to the attached coding grid for whether a code is covered, medically necessary if criteria are met, not medically necessary, or not covered; some codes require criteria to be met for approval.

Exemption applies only to Fully‑Funded Commercial Products and only when the requesting physician is a BCBSRI‑contracted PCP in the listed specialties.
Effective date: 10/1/2025.

Documentation Required

Use attached coding grid for code-level coverage and prior authorization indications

Coverage and medical necessity determinations for specific genetic testing codes are made per the attached coding grid (Genetic Testing Codes and Coverage Effective 4/1/2026); some codes may be covered only if stated criteria are met.

Refer to the external Genetic Testing Codes and Coverage spreadsheet for code-level coverage and any criteria required for approval.

Documentation Required

Ordering physician must submit authorizations; labs may not obtain authorization

Ordering physicians must submit authorization requests; do not delegate authorization or appeals to laboratories or their agents. Only the ordering physician shall be involved in the authorization, appeal, or other administrative processes related to prior authorization/medical necessity.

Laboratories are not allowed to obtain or participate in authorization on behalf of the ordering physician.
Only the ordering physician may prepare/submit authorization and appeals documentation.

Step Therapy

No step therapy requirements specified

This policy does not specify any step therapy requirements for genetic testing.

No explicit step therapy requirements are specified in this policy section.

Billing Rule

Submit authorization requests via BCBSRI online tool; fax option for others

Requests for authorization of genetic testing should be submitted via the BCBSRI online prior authorization tool for BCBSRI‑participating providers; all other providers may fax requests to Utilization Management at (401) 272‑8885. If a genetic test is not found in the online tool, fax the request to Utilization Management.

BCBSRI‑participating providers: use online prior authorization tool.
Non‑participating providers or tests not found online: fax requests to Utilization Management at (401) 272‑8885.

Documentation Required

Reference the Genetic Testing Codes and Coverage grid for code‑level determinations

Providers should reference the attached coding grid (Genetic Testing Codes and Coverage Effective 4/1/2026) for code‑level coverage determinations and for diagnosis coding guidance in the Comments column.

The attached spreadsheet lists which codes may be covered, medically necessary if criteria are met, not medically necessary, or not covered.
Some tests’ medical necessity is determined by the diagnosis code submitted with the claim; see the Comments column or related policy references.

Denial Risk

Services without required authorization may be denied; labs cannot obtain auth for ordering physician

Services provided without required authorization may be denied; 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.

Unauthorized services may be denied.
Laboratories are not permitted to obtain authorization on behalf of the ordering physician; unauthorized lab services may be the lab's financial liability.

Denial Risk

Tests without demonstrated clinical utility/validity are not medically necessary and may be denied

Tests lacking demonstrated clinical utility or with insufficient clinical validity are considered not medically necessary and therefore may be denied; panels or tests with extremely limited published data are explicitly considered not medically necessary.

Panels or tests without sufficient evidence of clinical utility/validity are not medically necessary.
Such tests may be denied for both Medicare Advantage and Commercial Products.

Prior Authorization

Ordering physician must submit authorization; PCPs in listed specialties qualify for exemption when applicable

Effective 10/1/2025, BCBSRI‑contracted Primary Care Providers in the listed specialties must be the requesting (ordering) physician for the PCP exemption to apply; ordering physician must submit authorization requests per policy.

Ordering physician must be the requestor for authorization; PCP exemption limited to credentialed specialties listed in the policy.
Exemption applies only to Fully‑Funded Commercial Products; prior authorization still required for other products.

Relation to carrier-rate thresholdUsed with population carrier-rate thresholds — screening is appropriate when population carrier rate exceeds the policy-defined threshold.

Germline Variants

DefinitionVariants present in the DNA of every cell of the body from conception, including gonadal cells, and can be passed to offspring.

Clinical relevanceGermline testing can confirm inherited diagnoses, identify etiology for syndromes, or assess future disease risk.

Sample implicationDetected in germline (constitutional) samples; results have implications for relatives and reproductive planning.

Somatic Variants

DefinitionVariants that occur over time and are restricted to specific cells; if not present in gonadal cells, they are not passed to offspring.

Clinical relevanceSomatic (tumor) testing guides targeted therapy and treatment selection based on acquired variants.

Inheritance implicationNot heritable unless present in gonadal cells; generally limited to the affected tissue or tumor.

Germline Variants

Definition (duplicate)Germline variants are present in the DNA of every cell of the body, including gonads, and can be passed to offspring.

Reproductive importanceFindings inform family risk and may warrant cascade testing or reproductive counseling.

Typical use casesUsed for confirming inherited disorders and assessing future disease risk in asymptomatic individuals.

Somatic Variants

Definition (duplicate)Somatic variants occur over time, are restricted to specific cells, and are not passed to offspring if not present in gonadal cells.

Therapeutic rolePrimary application is in tumor profiling to direct targeted therapies based on somatic alterations.

Testing sampleTypically identified from tumor tissue or circulating tumor DNA rather than germline samples.

Pharmacogenomics

DefinitionPharmacogenomics studies how a person's genetic makeup affects his or her body's response to drugs.

Clinical applicationUsed to predict drug efficacy, dose optimization, and risk of adverse drug reactions based on genetic variants.

Test examplesMay include single-gene pharmacogenetic tests or panels that assess multiple drug-response genes.

Provider Update published (September 2025).

2025-05-01provider_update

Provider Update published (May 2025).

2025-02-01provider_update

Provider Update published (January/February 2025).

2024-09-01provider_update

Provider Update published (September 2024).

2024-07-01provider_update

Provider Update published (July 2024).

2024-03-01provider_update

Provider Update published (March 2024).

2023-11-01provider_update

Provider Update published (November 2023).

2023-06-01provider_update

Provider Update published (June 2023).

2023-04-01provider_update

Provider Update published (April 2023).

2023-02-01provider_update

Provider Update published (February 2023).

2022-08-01provider_update

Provider Update published (August 2022).

2022-03-01provider_update

Provider Update published (March 2022).

2021-10-01provider_update

Provider Update published (October 2021).