ModifiedCommunity Health Plan WashingtonPolicy N/A

General Approach to Genetic and Molecular Testing

Governs medical necessity review and general criteria for genetic, molecular, and related laboratory tests not specifically addressed by other Concert policies; applies to providers submitting testing for plan members.

Policy Summary

PayerCommunity Health Plan Washington

PolicyGeneral Approach to Genetic and Molecular Testing

Policy CodePolicy N/A

Change TypeMaterial revisions and consolidations (definitions, prenatal guidance, oncology criteria)

Effective DateN/A

Next Review DateN/A

Key ActionDocument pretest counseling and perform testing in CLIA-approved laboratories; obtain prior authorization when required.

SourceLink

POLICY UPDATE CHANGES

Updated definition of targeted prenatal screening to include full gene sequencing or targeted mutation analysis for pathogenic or likely pathogenic variants.

Removed General Criteria for Tumor Biomarker Analysis and Oncology Algorithmic Tests sections and consolidated under General Criteria for Other Tests.

Added Prenatal Diagnosis for Single Gene Disorders section including references to NSGC, ACOG, and CDC/ACCE framework.

Replaced 'investigational' policy language with 'Current evidence does not support…' throughout the policy.

multipleRelated policies

pre/post advisedCounseling

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Coverage Criteria — Genetic & Molecular Testing

Known Familial Variant Analysis

Targeted mutation analysis for a known familial pathogenic variant is medically necessary when ALL of the following are met:

Known familial variant criteria: A. Member is 18 years or older (if the condition is adult-onset); B. Member has a close relative with a known pathogenic or likely pathogenic variant causing the condition; C. An association between the gene and disease has been established.

Current evidence does not support targeted analysis for familial variants of uncertain significance or for other indications.

Targeted Carrier Screening

Carrier screening for a genetic disorder may be considered medically necessary when ALL of the following are met:

Carrier screening core: A. Member is considering pregnancy or is currently pregnant; B. The genetic disorder is a recessive condition with childhood onset; C. One of the following is true: 1) The member has a close relative with a known pathogenic or likely pathogenic variant associated with the disorder; OR 2) The member's reproductive partner is a carrier for the genetic disorder; OR 3) The member or the reproductive partner are members of a population with a carrier rate of 1% or higher; OR 4) The member or reproductive partner has a first- or second-degree relative affected with the genetic disorder.population carrier rate of 1% or higher

Current evidence does not support carrier screening for other indications.

Single Gene or Multigene Panel Analysis

Genetic testing via single-gene or multigene panel may be medically necessary when ALL of the following are met:

Single-gene/multigene panel criteria: A. Member displays clinical features of the suspected genetic condition; B. Diagnosis remains uncertain after appropriate clinical evaluation and other standard laboratory tests/imaging have been performed; C. The test has clinical validity, demonstrated by accurately determining diagnostic, prognostic, or clinical information for the disease; D. The test has clinical utility, demonstrated by at least one of the following: determining therapeutic effectiveness or harm, directly impacting clinical management, determining prognosis, or providing/refining estimates of natural history or recurrence risk.

Current evidence does not support single-gene or multigene panel testing for all other indications.

Prenatal Diagnosis for Single-Gene Disorders

Prenatal diagnostic testing (amniocentesis, CVS, PUBS) for single-gene disorders may be medically necessary when ANY of the specified parental or couple conditions are met AND additional conditions apply:

Prenatal single-gene diagnostic criteria: Member meets any listed parental criteria (e.g., at least one biological parent has a known pathogenic variant for an autosomal dominant condition; both biological parents are known carriers for an autosomal recessive condition; one biological parent is suspected or known to be a carrier for an X-linked condition), AND the test will (1) determine if a therapeutic intervention is effective or harmful, OR (2) directly impact clinical management, OR (3) determine prognosis, OR (4) provide or refine estimates of natural history, recurrence risk, or predicted course of the genetic condition, AND there is no known familial pathogenic or likely pathogenic variant for which targeted variant analysis would be more appropriate, AND non-genetic causes for the member's clinical features have been ruled out, AND an association between the gene (or multigene panel) and disease has been established.

Pretest counseling should address test performance, potential results, and the option to decline testing; prenatal testing for adult-onset single-gene disorders is considered not medically necessary when it will not affect pregnancy or childhood management.

Other Laboratory Tests

Other laboratory tests are medically necessary when ALL of the following are met:

Other lab tests criteria: A. Member displays relevant clinical features consistent with intended use of the test; B. The test has clinical validity demonstrated by accurately determining diagnostic, prognostic, or clinical information for the disease; C. The test has clinical utility demonstrated by at least one of the following: determining therapeutic effectiveness or harm, directly impacting clinical management, determining prognosis, or providing/refining estimates of natural history or recurrence risk; D. Testing is performed in a CLIA-approved laboratory and the test's sensitivity, specificity, and residual risk are understood.

Current evidence does not support other laboratory tests for all other indications; prenatal diagnosis for adult-onset single-gene disorders and testing for VUS are not medically necessary under these criteria.

Prenatal Diagnosis for Single Gene Disorders (counseling & indications)

Prenatal genetic testing for single gene and adult-onset conditions is governed by counseling and specific indications:

Prenatal testing for adult-onset conditions: Testing for known adult-onset conditions should not be offered if pregnancy or childhood management will not be affected unless prospective parents receive pretest genetic counseling that includes discussion of natural history, availability of treatments or interventions, potential impact on a child's future autonomy, and potential for genetic discrimination; genetics specialist or genetic counselor consultation is recommended prior to testing.

Reflects NSGC and ACOG guidance; routine prenatal testing for adult-onset conditions that will not affect management is not recommended.

General Criteria / Test Evaluation

Tests are evaluated for analytic validity, clinical validity, clinical utility, and ethical/legal/social implications using the ACCE model and published definitions:

Test evaluation framework: Tests must demonstrate adequate analytic validity, clinical validity (including sensitivity, specificity, positive and negative predictive values), and clinical utility such that the test and any subsequent interventions lead to improved health outcomes; risks, benefits, and ethical/legal/social implications must be documented per the CDC ACCE 44-question framework.Use ACCE 44-item framework

Clinical validity and clinical utility definitions per NIH/CDC references.

Oncology Algorithmic Tests / Tumor Biomarker Analysis

Oncology algorithmic and tumor biomarker testing coverage requires demonstration of analytic validity and high-level evidence of improved outcomes:

Oncology algorithmic/TBT requirements: Tumor biomarker and algorithmic tests must have high analytic validity and evidence that use of the test improves clinical outcomes compared with not knowing the results; coverage criteria have been expanded to include suspected neoplasm as well as confirmed malignancy.High levels of evidence demonstrating outcome improvement

Policy updates aligned with guideline and evidence expectations for oncology algorithmic tests.

Targeted mutation analysis for a known familial variant of uncertain significance (VUS) is not supported. The policy explicitly states: Current evidence does not support targeted mutation analysis for a known familial variant of uncertain significance, and targeted analysis should be limited to situations meeting the covered criteria (e.g., close relative with a known pathogenic/likely pathogenic variant and adult-onset age criteria) (see targeted familial variant criteria).

Prenatal testing that seeks to identify variants related only to adult-onset conditions should not be performed when results will not affect pregnancy management or the child’s care. The policy indicates prenatal diagnosis for adult-onset single-gene disorders is considered not medically necessary and that variants of uncertain significance are not supported in the prenatal context.

Routine prenatal genetic testing for adult-onset conditions is not recommended when the information will not change pregnancy care or childhood management. National Society of Genetic Counselors (NSGC) guidance is cited: prospective parents should meet with a genetic counselor because prenatal testing for known adult-onset conditions is not recommended if pregnancy or childhood management will not be affected, and counseling should include natural history, interventions, autonomy, and discrimination concerns.

Consistent with CDC/ACCE and ACOG frameworks, pretest counseling must cover test performance (sensitivity/specificity, predictive values), possible results, and implications so that families can make informed decisions; testing that lacks clinical utility in the prenatal or pediatric period should generally be deferred.

An example of a coverage exclusion is prenatal diagnostic testing for adult-onset single-gene disorders (for example, hereditary cancer syndromes such as BRCA1/2). The policy explicitly states that prenatal diagnosis for adult-onset single-gene disorders is considered not medically necessary when it will not impact pregnancy or childhood management.

The policy further clarifies that targeted mutation analysis for familial variants of uncertain significance is not supported, and prenatal testing should prioritize situations where a known pathogenic/likely pathogenic familial variant or other covered indication exists.

Wording throughout the policy has been standardized to replace language that previously used the term 'investigational' with the phrase 'Current evidence does not support…'. This change aligns policy statements to emphasize that tests lacking demonstrated analytic/clinical validity or clinical utility are not supported for coverage.

Covered Indications

Targeted familial pathogenic/likely pathogenic variant testing (adult-onset)

Targeted familial pathogenic/likely pathogenic variant testing is covered when ALL of the following are met:

Targeted familial variant testing (adult-onset): A. Member is age 18 years or older for adult-onset conditions; B. A close relative (first-, second-, or third-degree) has a known pathogenic or likely pathogenic variant; C. Gene-disease association has been established.

Targeted testing for familial variants of uncertain significance is not supported.

Carrier Screening: pregnancy/preconception indications

Carrier screening is covered when ALL of the following are met:

Carrier screening indications: A. Member is planning pregnancy or currently pregnant; B. The condition is autosomal recessive with childhood onset; C. One of: 1) a close relative has a known pathogenic/likely pathogenic variant; OR 2) reproductive partner is a carrier; OR 3) member or partner are from a population with carrier rate ≥1%; OR 4) first- or second-degree relative affected with the disorder.

Provider Actions & Documentation Requirements

Documentation Required

Clinical evaluation and prior workup required

Document the clinical evaluation and prior diagnostic workup before ordering genetic or other specialized laboratory testing. Providers should record relevant clinical features, results of standard laboratory tests, imaging, and other evaluations that demonstrate the diagnosis remains uncertain after appropriate assessment.

Document clinical evaluation and prior workup (e.g., history, exam, imaging, standard labs) before testing.
Ensure the diagnosis remains uncertain after appropriate evaluation and standard diagnostic workup have been performed.

Documentation Required

Known familial variant testing documentation

Targeted testing for a known familial variant is appropriate when a close relative has a documented pathogenic or likely pathogenic variant and the gene–disease association is established. Include documentation identifying the relative, the specific familial variant, and evidence that the variant is pathogenic/likely pathogenic. Targeted analysis is not supported for familial variants of uncertain significance.

Include the familial relationship and the specific variant (nucleotide/protein change) in the record.

Coding and Key Value Details

Referenced but not exhaustive: Tests, CPT, and ICD codesmixed

No codes listed

No explicit CPT/HCPCS/ICD codes listed in this sectionmixed

No codes listed

Carrier frequency threshold — population carrier rate threshold used (e.g., 1%)

Carrier frequency thresholdPopulation carrier rate of 1% or higher

ContextApplies when member or reproductive partner are members of a population known to have a carrier rate ≥1% for the genetic condition

Use in screening criteriaCounts as one of the qualifying indications for targeted carrier screening when planning pregnancy or pregnant

Age definition for adult-onset — onset typically after age 18

Age defining adult-onsetSigns, symptoms, or manifestations typically begin after age 18 years

Implication for testing

Not Covered / Exclusions

Not covered: Targeted mutation analysis for familial variants of uncertain significance (VUS) and prenatal diagnosis for adult-onset single-gene disorders when testing would not affect pregnancy or childhood management. The policy specifies these situations as not supported by current evidence.

Claims for targeted familial variant testing must meet the covered criteria (e.g., documented close relative with a known pathogenic/likely pathogenic variant and age/onset requirements); otherwise testing described above is considered not covered.

Not covered: Routine prenatal genetic testing for known adult-onset conditions when results will not affect pregnancy care or management during childhood. NSGC and ACOG guidance cited in the policy recommend deferring predictive testing for adult-onset conditions unless childhood interventions would reduce morbidity or mortality, and emphasize mandatory pretest counseling when testing is considered.

The policy requires documentation that testing would affect management or prognosis to support coverage; absent that, prenatal testing for adult-onset conditions is not recommended and may be considered not medically necessary.

Eligibility Requirements

Eligibility for targeted familial variant testing requires documentation that a close relative has a known pathogenic or likely pathogenic variant. The known familial pathogenic/likely pathogenic variant in a first-, second-, or third-degree relative is a core requirement for coverage of targeted mutation analysis.

In addition, when the condition is adult-onset, the member must meet the policy’s age criterion (member is 18 years or older) for the indication to be considered medically necessary.

Before ordering single-gene or multigene panel testing, the diagnosis should remain uncertain after an appropriate clinical evaluation and standard laboratory and imaging studies. The policy requires that clinical features consistent with the suspected condition persist and that the test demonstrates clinical validity and clinical utility (i.e., testing will impact therapy, management, prognosis, or recurrence risk estimation).

Providers must document prior evaluation and why standard diagnostic workup did not establish the diagnosis; failure to show the diagnosis remains uncertain may lead to denial.

This section contains no top-level eligibility nodes in the inventory for the policy version provided.

Background

Background: This policy establishes general medical necessity criteria for genetic, molecular, and related laboratory tests that are not specifically addressed by other payer policies. It emphasizes demonstration of analytic validity, clinical validity, and clinical utility (using the ACCE model), requirement for appropriate prior clinical evaluation, and performance in a CLIA-approved laboratory when applicable.

The policy incorporates professional society guidance (e.g., NSGC, ACOG, CDC) for prenatal testing and carrier screening, and standardizes language to state 'Current evidence does not support…' for tests lacking evidence of clinical validity or utility.

Definitions

Targeted carrier screening definition — full gene sequencing or targeted mutation analysis for pathogenic/likely pathogenic variants

DefinitionA test that screens via full gene sequencing or targeted mutation analysis for a pathogenic or likely pathogenic variant in a gene associated with a specific genetic condition

Method examplesFull gene sequencing or targeted mutation analysis

Intended useUsed for carrier screening when member is considering pregnancy or is currently pregnant and other criteria are met

Clinical validity definition — accuracy (sensitivity, specificity, PPV/NPV)

DefinitionClinical validity: accuracy with which a test identifies a particular clinical condition (includes sensitivity, specificity, positive and negative predictive values)

Components

Revision History

11/24revision

Policy updated to V1.2025: definition of targeted prenatal screening revised to include full gene sequencing or targeted mutation analysis for pathogenic/likely pathogenic variants; Prenatal Diagnosis for Genetic Conditions moved into this policy; age restriction for adult-onset tests removed from single-gene/multigene panel criteria; added autosomal recessive definition; updated oncology guideline references.

11/25revision

Consolidated oncology criteria: removed separate General Criteria for Tumor Biomarker Analysis and General Criteria for Oncology Algorithmic Tests and placed under General Criteria for Other Tests; replaced 'investigational' language with 'Current evidence does not support…' throughout the policy.

12/25

Policy Summary

PayerCommunity Health Plan Washington

PolicyGeneral Approach to Genetic and Molecular Testing

Policy CodePolicy N/A

Change TypeMaterial revisions and consolidations (definitions, prenatal guidance, oncology criteria)

Effective DateN/A

Next Review DateN/A

Key ActionDocument pretest counseling and perform testing in CLIA-approved laboratories; obtain prior authorization when required.

SourceLink

On This Page

Single-gene or Multigene Panels: covered indications

Single-gene or multigene panels are covered when ALL of the following are met:

Panel testing indications: A. Member has clinical features suggestive of the suspected genetic condition; B. Diagnosis remains uncertain after appropriate clinical evaluation and standard laboratory/imaging workup; C. The test demonstrates clinical validity; D. The test demonstrates clinical utility by affecting therapy, clinical management, prognosis, or providing/refining natural history or recurrence risk information.

Testing is not supported when diagnosis is already certain or when validity/utility are not demonstrated.

Prenatal diagnostic testing for single-gene disorders: covered indications

Prenatal diagnostic testing (amniocentesis/CVS/PUBS) for single-gene disorders is covered when ANY of the parental/couple risk scenarios below are met AND required conditions apply:

Prenatal diagnostic testing indications: A. Member meets any parental/couple risk criteria (e.g., at least one biological parent has a known pathogenic variant for an autosomal dominant disorder; both parents are known carriers of an autosomal recessive disorder; one parent is suspected/known carrier for X-linked disorder); B. Testing will determine therapeutic effectiveness, directly impact clinical management, determine prognosis, or provide/refine natural history/recurrence risk; C. No known familial pathogenic variant exists for which targeted analysis is more appropriate; D. Non-genetic causes have been ruled out; E. Gene-disease association established.

Prenatal diagnosis for adult-onset single-gene disorders is considered not medically necessary when it will not affect pregnancy or childhood management; VUS not supported.

Pregnancy with increased risk of fetal genetic disorder

Pregnancy with increased risk of fetal genetic disorder includes the following risk categories:

Increased pregnancy risk categories: Advanced maternal or paternal age; prior child with structural birth defect or previous fetus/child with autosomal trisomy or sex chromosome aneuploidy; structural anomalies on ultrasound; parental carrier of chromosome rearrangement or genetic disorder; parental aneuploidy or mosaicism; biological parent affected by an autosomal dominant disorder.

Molecular confirmation in the affected child is usually necessary to ensure informative recurrence testing and accurate risk assessment.

Oncology Algorithmic Tests / Tumor Biomarker Analysis: covered indications

Oncology algorithmic tests and tumor biomarker analysis are covered when ALL of the following are met:

Oncology algorithmic test criteria: A. The test demonstrates high analytic validity; B. There is high-level evidence that use of the test improves clinical outcomes compared with not knowing the results; C. Coverage is applicable for suspected neoplasm as well as confirmed malignancy.High levels of evidence demonstrating outcome improvement

Policy consolidated oncology algorithmic criteria under general test evaluation and requires demonstration of clinical utility (per Hayes et al. and guideline alignment).

Prior Authorization

Required counseling and test performance discussion

Pretest counseling by a qualified provider (or after consultation with genetics specialists) should be provided and documented. Counseling should cover possible result types (positive/pathogenic, negative, VUS), implications for management, possible incidental/secondary findings, and limits of test performance (sensitivity, specificity, residual risk). Document that the patient was given the opportunity to decline testing.

Document that pretest counseling occurred and the key topics discussed (potential results, incidental findings, benefits/limitations).
Document discussion of test performance characteristics (sensitivity, specificity, PPV/NPV, residual risk) relative to the patient’s clinical context.

Denial Risk

Denial conditions and laboratory requirements

Testing may be denied if documentation shows the diagnosis is already certain after an appropriate clinical evaluation, or if the test’s clinical validity or clinical utility for the requested indication has not been demonstrated. Tests performed outside CLIA-approved laboratories or without required counseling documentation are at risk for denial.

Denial risk if diagnosis is certain after appropriate evaluation.
Denial risk for tests performed in non-CLIA labs.
Denial risk if pretest counseling documentation is not provided.

Documentation Required

Other laboratory tests performed outside: CLIA and clinical justification

Other laboratory tests should be ordered only when the member displays clinical features consistent with the test’s intended use and when the test has established clinical validity and utility. Confirm testing will be performed in a CLIA-approved laboratory and document how results will affect clinical management.

Document relevant clinical features and rationale tying the test to management decisions.
Confirm testing will be performed in a CLIA-approved laboratory.

Note

Unspecified provider action note

If a section of the clinical documentation or order lacks specific actionable instructions (e.g., unspecified provider action), clearly note this in the record and seek clarification or a genetics consultation prior to testing to avoid inappropriate orders or denial.

Flag and resolve unspecified or ambiguous orders before specimen submission.
Consult genetics experts when test selection or interpretation is uncertain.

Lab and counseling requirements reiterated for coding considerations

Laboratory requirementTesting (other laboratory tests) must be performed in a CLIA-approved laboratory

Counseling requirementPre-test and post-test genetic counseling is strongly advised and documentation of counseling (including test performance and implications) is required

Prior authorizationPrior authorization requirements apply per payer processes; documentation of clinical evaluation and standard workup may be required before coverage consideration

Adult-onset condition — typical onset after age 18; predictive testing deferral guidance

DefinitionAdult-onset condition: signs, symptoms, or manifestations typically begin after age 18 years

Predictive testing guidancePredictive testing in prenatal or childhood contexts should generally be deferred unless interventions in childhood reduce morbidity or mortality

ApplicationMember must be ≥18 for targeted familial variant testing for adult-onset conditions unless counseling/justification per policy exceptions

Germline pathogenic variant definition — inherited mutations present in germ cells

DefinitionGermline pathogenic or likely pathogenic variants are mutations that occur in egg and sperm cells (germ cells) and are inherited/passed through families

Inheritance implicationThese variants are present in all cells of offspring and can be transmitted to future generations

Clinical noteMost germline mutations do not result in disease; pathogenic/likely pathogenic classification is required for targeted familial testing indication

Targeted carrier screening (expanded) — screening via full gene sequencing or targeted mutation analysis for pathogenic/likely pathogenic variants

DefinitionTargeted carrier screening: screening via full gene sequencing or targeted mutation analysis for a pathogenic or likely pathogenic variant in a gene associated with a specific genetic condition

Typical use caseApplied when member is considering pregnancy or is pregnant and other carrier-screening criteria are met (e.g., population carrier rate ≥1%, affected first-/second-degree relative, known familial variant)

Test modalitiesIncludes full gene sequencing or targeted mutation analysis as methods to detect pathogenic/likely pathogenic variants