General Approach to Genetic and Molecular Testing (Genetic Testing: General Approach)
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Defines medical necessity criteria and coverage approach for germline and somatic genetic/molecular tests (familial variant, carrier screening, single- and multi-gene panels, tumor biomarker and algorithmic tests) including documentation, lab accreditation, counseling, and prior authorization expectations.
Added 'General Tumor Biomarker Analysis', 'Oncology Algorithmic Tests', and 'Other Tests' sections to the policy.
Updated criteria assessing for clinical validity and utility across multiple test categories (single gene/multigene panels, tumor biomarker analysis, oncology algorithmic tests, other tests).
Updated definition of targeted prenatal screening to include full gene sequencing or targeted mutation analysis for pathogenic/likely pathogenic variants.
Removed age restriction for adult-onset tests when clinical features of the condition are present.
Coverage and Medical Necessity Criteria
Known Familial Variant Analysis — Medically Necessary
Targeted mutation analysis for a known familial variant is medically necessary when ALL of the following are met:
Targeted mutation analysis for a known familial variant of uncertain significance (VUS) is investigational; targeted analysis for other non-specified indications is investigational.
Targeted Carrier Screening — Medically Necessary
Carrier screening via full gene sequencing or targeted mutation analysis may be medically necessary when ALL of the following are met:
Carrier screening for other indications is considered investigational.
Single Gene or Multigene Panel Analysis — Medically Necessary
Single-gene or multigene testing may be medically necessary when ALL of the following are met:
Genetic testing via single-gene or multigene panel analysis is investigational for all other indications.
Tumor Biomarker Analysis — Medically Necessary
Tumor biomarker analysis is medically necessary when the following criteria are met for the respective context:
Prenatal diagnosis for adult-onset single-gene disorders via invasive testing (amniocentesis, CVS, PUBS) is not medically necessary; VUS in this context is investigational.
General tumor biomarker analysis is investigational for other indications.
Oncology Algorithmic Tests — Medically Necessary
Oncology algorithmic testing is medically necessary when ALL of the following are met:
Oncology algorithmic testing is investigational for all other indications; see referenced algorithmic testing policy for test-specific criteria.
Other Tests — Medically Necessary
Other genetic/molecular tests are medically necessary when ALL of the following are met:
Other tests are investigational for indications not meeting these criteria.
General coverage criteria — analytic validity, clinical validity, clinical utility
Covered when tests demonstrate appropriate analytic validity, clinical validity, and clinical utility and when pretest evaluation and counseling support testing.
Policy revisions emphasize clinical validity and utility across test categories.
Policy expanded to include suspected neoplasm as an indication.
Prenatal diagnosis content was moved into this policy and definitions were updated.
General criteria sources
Policy references and professional guidance that underpin the coverage criteria:
See policy reference list for full citations.
Prenatal diagnosis by invasive procedures (amniocentesis, chorionic villus sampling, or percutaneous umbilical blood sampling) for adult-onset single-gene disorders is not medically necessary when performed solely for prediction of conditions that manifest in adulthood. This policy designates invasive prenatal single-gene testing for adult-onset disorders (for example, hereditary cancer syndromes such as BRCA1/2) as not medically necessary and considers testing for variants of uncertain significance investigational.
The National Society of Genetic Counselors (NSGC) recommends against prenatal genetic testing for known adult-onset conditions when the result will not affect pregnancy management or childhood care. Prospective parents should receive pre-test genetic counseling to discuss natural history, available interventions, ethical considerations (including potential impact on a child’s future autonomy), and the limits and implications of testing prior to pursuing prenatal testing for adult-onset conditions.
Coverage and payment for genetic and molecular testing are governed by the member’s specific coverage documents and applicable state and federal requirements. Benefits are administered according to the terms, conditions, exclusions, and limitations of the evidence of coverage, certificate of coverage, policy, contract, and Health Plan administrative procedures; these plan-level rules may restrict coverage even when policy criteria are met.
For example, this policy explicitly lists prenatal diagnosis for single-gene disorders via amniocentesis, chorionic villus sampling, or percutaneous umbilical blood sampling as not medically necessary when the indication is an adult-onset condition (e.g., hereditary cancer syndromes). Variants of uncertain significance detected in the familial context are considered investigational and are not appropriate indications for invasive prenatal diagnosis.
The policy discourages several uses of genetic testing that lack clinical justification: targeted analysis of a familial variant of uncertain significance (VUS) is investigational; carrier screening performed outside the defined reproductive or preconception contexts or without qualifying family or population risk is investigational; and ordering broad single-gene or multigene panels, tumor biomarker tests, or algorithmic tests when the specific clinical validity and clinical utility criteria are not met is considered investigational or not medically necessary.
Predictive genetic testing of minors for adult-onset conditions should generally be deferred when the result will not affect medical management during childhood. Professional guidance supports postponing predictive testing until the individual can participate in decision-making, unless an intervention begun in childhood would reduce morbidity or mortality.
Denials may be issued when requested testing does not meet the Health Plan’s medical necessity criteria or when the request conflicts with plan terms, exclusions, or applicable coverage documents. Providers should document clinical indications, counseling, and rationale showing how the requested test meets the policy’s clinical validity and clinical utility requirements to reduce the risk of denial.
Examples of Covered Indications
Covered broad test categories – clinical validity and utility requirement
Covered broad test categories when clinical validity and clinical utility are demonstrated:
See respective sections for specific eligibility and documentation requirements.
Diagnostic evaluation indications — when genetic diagnosis informs care
Diagnostic evaluation indications where genetic testing may be medically necessary:
Clinical evaluation and uncertainty after standard testing should precede panel testing (see single/multigene criteria).
Oncology indications — somatic/tumor testing for therapy guidance
Oncology indications for somatic/tumor testing:
Criteria align with NCCN guidance; tumor testing should be performed in CLIA-approved laboratories.
Prenatal assessment — aneuploidy and targeted prenatal diagnosis with counseling
Prenatal assessment and prerequisites for targeted prenatal diagnosis:
Prenatal testing for adult-onset conditions is generally not recommended unless pregnancy or childhood management would be affected; confirmation in an affected child may be required to ensure informative testing for recurrence risk.
Prenatal diagnostic testing and carrier screening — cited ACOG and NSGC guidance
Prenatal diagnostic testing and carrier screening are informed by professional guidance:
See referenced ACOG and NSGC documents for detailed recommendations and counseling expectations.
Eligibility and Ordering Requirements
For targeted familial variant analysis to be eligible, the close relative must have a documented pathogenic or likely pathogenic (P/LP) variant in the gene of interest. The policy requires that the familial P/LP variant be present in a first-, second-, or third-degree relative to support targeted testing, and specifies that targeted analysis for a familial VUS is investigational.
Eligibility for targeted familial variant testing requires documentation that the family member’s variant is classified as pathogenic or likely pathogenic and that an association between the gene and the disease has been established. The member’s relationship to the affected relative (e.g., first-, second-, or third-degree) should be clearly documented in the clinical record.
Testing requests for targeted familial variant analysis must include evidence of the known familial P/LP variant (for example, prior laboratory report confirming the variant and classification). Absent documentation of a familial P/LP variant, targeted testing is not supported.
Top-level eligibility principles require that any genetic test ordered demonstrate adequate analytic validity, clinical validity, and clinical utility. Tests should be ordered only when pretest evaluation, counseling, and documentation support that the result will influence clinical management or reproductive decision-making.
When a known familial P/LP variant exists, the policy favors targeted variant analysis as the preferred first-line test. Ordering broader single-gene or multigene panels in this context requires explicit justification demonstrating why targeted testing would be insufficient and how broader testing meets clinical validity and utility criteria.
If no known familial P/LP variant is documented, single-gene or multigene panel testing may be appropriate when the member displays clinical features of the suspected condition, non-genetic causes have been excluded, and testing meets the policy’s clinical validity and utility standards. Panel testing should be guided by clinical indication and not performed routinely when a targeted familial test is available.
Documentation supporting eligibility must include the member’s clinical presentation, family history specifying the relative with the P/LP variant, and prior testing results if available. For carrier screening, evidence of pregnancy or reproductive planning and population or family risk (for example, carrier frequency >=1% in the population) should be provided when applicable.
When deciding between targeted and broader testing approaches, providers must consider analytic and clinical validity, the gene content of panels, and the potential for variants of uncertain significance; multigene panels are supported when clinically warranted and when the panel’s validity and utility are clear.
Provider Responsibilities and Operational Requirements
Verify CLIA lab accreditation and test validity
Testing for tumor biomarker analysis and other tests designated as medically necessary must be performed in a Clinical Laboratory Improvement Amendments (CLIA)–approved laboratory; prior authorization processes should verify laboratory accreditation and that the test meets clinical validity and clinical utility criteria.
- CLIA requirement applies to tumor biomarker and other tests: “Testing is being performed in a Clinical Laboratory Improvement Amendments (CLIA) approved laboratory.”
- Prior auth should verify laboratory accreditation and that the test meets clinical validity/utility standards described in the policy.
Expect updated prior authorization expectations after policy changes
Policy revisions and consolidation emphasize clinical validity and clinical utility across test categories; providers should expect that prior authorization criteria and documentation expectations may change and should document clinical features and rationale when ordering tests.
- Policy updates added and reorganized tumor biomarker, oncology algorithmic, and other test categories and emphasized clinical validity/utility.
- Document clinical features and rationale to support prior authorization decisions.
Check plan-level prior authorization requirements
Prior authorization requirements for genetic and molecular testing are governed by the Health Plan's administrative policies and member coverage documents; providers should check plan-level procedures before ordering tests.
- Coverage decisions and administration of benefits are subject to terms, exclusions, and limitations of coverage documents and Health Plan procedures.
Prefer targeted familial variant testing first
When a known familial pathogenic or likely pathogenic (P/LP) variant exists in a relative, targeted familial variant analysis is preferred over broader single‑gene or multigene panel testing unless broader testing is clinically indicated.
- Known familial variant testing criteria: targeted analysis medically necessary when a close relative has a known P/LP variant.
- Panels are only appropriate when no known familial P/LP variant exists or broader testing is otherwise clinically indicated.
Confirm affected-child molecular diagnosis for prenatal recurrence testing
When ordering prenatal recurrence testing, confirm molecular diagnosis in the affected child when available to ensure informative testing for subsequent pregnancies and document the need for testing.
- A diagnosis established by molecular testing of the affected child is usually necessary to ensure recurrence testing is informative and risk assessment is accurate.
- Pretest counseling per ACOG should be provided and documented.
Follow plan-specific administrative and coverage rules
Coverage is subject to the Health Plan's administrative policies and member coverage documents; providers must follow plan-level procedures and check for any plan-specific limitations or exclusions when ordering and billing tests.
- The policy guide is not a contract or guarantee of payment; coverage and benefit administration are subject to coverage documents and applicable legal/regulatory requirements.
Provide required clinical documentation supporting medical necessity
Clinical documentation must demonstrate that the member meets the specific criteria for the test class (for example: age and family variant status for targeted familial variant analysis; pregnancy/reproductive status for carrier screening; confirmed neoplasm and CLIA lab for tumor biomarker testing).
- Document age or adult‑onset condition considerations for familial variant testing.
- Document pregnancy/reproductive intent and indication for carrier screening.
- Document confirmed neoplasm and CLIA lab testing for tumor biomarker analysis.
- Document that the test has demonstrated clinical validity and clinical utility per policy criteria.
Perform and document pretest counseling and informed consent
Provide pretest counseling and informed consent that discusses test sensitivity and specificity, potential results (positive, negative, indeterminate), residual risk, implications for management and family, and the patient’s option to decline testing.
- ACOG Committee Opinion No. 693: discuss test performance, types of potential results, risks, limitations, and benefits before testing.
- Document that counseling was provided and that the patient had the option to decline testing.
Follow applicable coverage documents and legal requirements
Providers must follow applicable coverage documents (evidence of coverage, certificate of coverage, policy/contract) and state/federal requirements when submitting claims for genetic and molecular testing.
- Coverage decisions and benefit administration are subject to all terms, conditions, exclusions, and limitations of the coverage documents.
Denial risk when requests do not meet medical necessity criteria
Requests that do not meet the policy's stated medical necessity criteria for the specific test class may be denied; examples include ordering targeted familial variant analysis without a close relative with a known P/LP variant or ordering carrier screening outside specified reproductive contexts.
- Targeted familial VUS testing is investigational and may be denied.
- Carrier screening outside pregnancy/reproductive planning or population‑risk criteria is investigational.
- Single/multi‑gene panels ordered without meeting diagnostic uncertainty and prior evaluation criteria risk denial.
- Tumor biomarker tests without a confirmed neoplasm or without CLIA lab testing risk denial.
Non‑coverage risk for tests without demonstrated clinical validity/utility
Tests that lack demonstrated clinical validity and clinical utility as required by the policy are subject to non‑coverage decisions; providers should document evidence that the requested test meets these standards.
- Policy revisions emphasize assessment of analytic validity, clinical validity, and clinical utility before coverage is allowed.
- Document how the test will determine therapy, impact management, determine prognosis, or refine natural history/recurrence risk.
Coverage is subject to member coverage document terms
Coverage decisions and benefit administration are governed by the terms, conditions, exclusions, and limitations of the member’s coverage documents; failure to meet those terms may result in denial or nonpayment.
- This policy guides medical necessity determinations but does not guarantee payment; follow the member’s evidence of coverage and plan contract.
Recommend genetic counseling by qualified provider
Genetic counseling is recommended for patients at risk for inherited disorders and those undergoing genetic testing; counseling should be performed by an individual with expertise in genetic medicine and testing methods.
- Counseling should address test performance, potential results, residual risk, and implications for the patient and family.
- ACOG Committee Opinion No. 693 is referenced for counseling expectations.
Recommend counseling for carrier and prenatal testing
Genetic counseling is recommended for patients undergoing carrier screening, prenatal testing, or diagnostic genetic evaluation; counseling should be documented and include discussion of implications and follow‑up.
- Carrier screening and counseling ideally occur before pregnancy; counseling offered when carriers are identified.
- Document counseling provided and any decisions made by the patient.
Document counseling for patients undergoing genetic testing
Genetic counseling is recommended across multiple sections of the policy for patients at risk and those undergoing testing; document counseling and involve genetics experts when appropriate.
- Pretest counseling is recommended for all genetic testing and should be documented.
- Refer to professional guidance (ACOG, NSGC) as appropriate.
Use ACOG and professional guidance for counseling content
See ACOG Committee Opinion No. 693 and other professional guidance for counseling content and documentation expectations when ordering prenatal and other genetic tests.
- ACOG states that expectations regarding test performance and types of potential results should be discussed before testing and that patients may decline testing after counseling.
- Use referenced guidance to structure counseling and consent documentation.
No specific specialty restrictions—document clinical indication
The policy does not impose specific specialty restrictions on ordering clinicians within these chunks; however, ordering clinicians must document the clinical indication and meet the policy’s documentation requirements.
- No explicit provider specialty limitations are specified in these sections—document clinical evaluation, prior testing, and rationale.
- Follow plan-level administrative policies for any additional ordering requirements.
Follow plan-level rules for any ordering provider qualifications
No explicit ordering provider restrictions are defined in these policy excerpts; providers should follow plan-level administrative policies and applicable state or federal regulations when ordering tests.
- Adhere to coverage documents and Health Plan procedures for any provider qualifications required for authorization or payment.
No explicit ordering provider restrictions—adhere to plan policies
There are no explicit provider‑specialty requirements in these sections; follow applicable Health Plan administrative policies and document the clinical indication and supporting evidence when ordering genetic tests.
- Ensure documentation demonstrates the member meets the specific test criteria even if the policy does not restrict ordering to certain specialties.
Investigational or Not Medically Necessary Services
Targeted mutation analysis for a known familial variant of uncertain significance (VUS) is considered investigational and is not covered. Other investigational contexts include testing performed without meeting the stated clinical validity and clinical utility criteria for the indicated test class.
The policy identifies multiple investigational or not-covered scenarios that overlap: familial VUS testing, carrier screening outside defined reproductive contexts or population risk, and panels or tumor/algorithmic tests ordered without evidence of clinical validity or utility are considered investigational or not medically necessary.
Investigational determinations apply when tests lack sufficient evidence of analytic performance, clinical validity, or clinical utility, or when clinical documentation does not support that results would alter management or reproductive decisions.
Requests for testing in investigational or not-covered categories will generally be denied; providers should refer to the policy’s defined criteria and provide documentation when asserting medical necessity in atypical cases.
Coverage determinations may also be constrained by National Coverage Determinations (NCDs), Local Coverage Determinations (LCDs), and other applicable federal or state policies. Certain tests or indications may be excluded from coverage under these external determinations even if the plan’s clinical criteria would otherwise be met.
Definitions and Terminology
Background
Genetic testing identifies both germline and somatic variants. Germline variants are inherited changes present in every cell and passed to offspring, whereas somatic variants arise in a cell or group of cells (for example, within a tumor) and are not inherited. The policy covers a range of test types, from targeted familial variant analysis and carrier screening to single-gene and multigene panels, tumor biomarker analysis, and algorithmic oncology tests, and requires evidence of analytic validity, clinical validity, and clinical utility to support medical necessity.
Policy Revision History
Policy last reviewed; consolidated test categories and emphasized clinical validity and utility across test classes (added General Tumor Biomarker Analysis, Oncology Algorithmic Tests, and Other Tests).
Policy developed and approved; initial consolidation and addition of General Tumor Biomarker Analysis, Oncology Algorithmic Tests, and Other Tests; updated notes and definitions (V1.2024).
Minor expansions and rewording to align criteria with guidelines (added 'suspected neoplasm' to oncology algorithmic tests), moved prenatal/carrier criteria into this policy, updated definition of targeted carrier screening, and removed age restriction for adult-onset tests when clinical features present.
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