CurrentCentenePolicy N/A

Concert Genetic Testing: General Approach to Genetic and Molecular Testing (PDF)

Provides Centene-affiliated health plans' general medical necessity criteria for genetic and molecular testing not addressed in more specific policies, including targeted familial variant analysis, carrier screening, single-gene/multigene panels, prenatal single-gene diagnosis, tumor biomarker analysis, oncology algorithmic tests, and other tests.

Policy Summary

PayerCentene

PolicyConcert Genetic Testing: General Approach to Genetic and Molecular Testing (PDF)

Policy CodePolicy N/A

Change TypeCriteria updates and clarifications (administrative and substantive)

Effective Date

Next Review Date

Key ActionDocument appropriate clinical evaluation and prior standard testing, and ensure tests demonstrate clinical validity and utility per referenced guidelines when ordering genetic or molecular tests.

SourceLink

POLICY UPDATE CHANGES

Overview, coding, reference-table, background and references updated; added General Tumor Biomarker Analysis, Oncology Algorithmic Tests, and Other Tests sections.

Definitions and notes updated (added clinical validity definition per NIH-DOE and added clinical utility definition).

Added suspected neoplasm and/or malignancy to Oncology Algorithmic Tests criteria (previously only allowed for confirmed neoplasm).

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

Removed age restriction for Single Gene or Multigene Panel Analysis for adult-onset tests; testing requires clinical features of the condition.

Consolidated several Known Familial Variant Analysis criteria into this general policy and removed subjective criterion about condition severity.

Replaced 'coverage criteria' phrasing with 'criteria' throughout and updated background, coding, reference tables, notes and definitions (added definitions for clinical validity, clinical utility, algorithmic test, autosomal recessive).

8Policy sections with specific criteria (familial variant, carrier, single/multi gene, prenatal, tumor biomarker, oncology algorithmic, other, definitions)

CLIA requiredLaboratory accreditation requirement for tumor/other tests

SeveralSections updated

V1.2025Policy version

11/2024Last revision date

Coverage Summary

This policy (V1.2025; Last revision: 11/2024) provides a general approach and medical necessity criteria for genetic and molecular testing that are not addressed by more specific policies. It applies to targeted familial variant analysis, targeted carrier screening, single-gene and multigene panel testing, prenatal single-gene diagnosis, tumor biomarker analysis, oncology algorithmic tests, and other genetic/molecular tests. The policy stance is covered with criteria, meaning tests meeting the listed criteria may be considered medically necessary. This is a general policy for genetic and molecular testing and references more specific policies for detailed criteria and coding guidance.

Policy metadata

Policy versionV1.2025

Last revision date11/2024

Scope summaryProvides Centene-affiliated health plans' general medical necessity criteria for genetic and molecular testing not addressed in more specific policies, including targeted familial variant analysis, carrier screening, single-gene/multigene panels, prenatal single-gene diagnosis, tumor biomarker analysis, oncology algorithmic tests, and other tests.

Laboratory accreditation requirementCLIA required

Coverage stancecovered_with_criteria

Medical-Necessity Criteria

MEDICAL-NECESSITY CRITERIA

The criteria below is intended for the evaluation of genetic testing that has not been more specifically addressed by criteria in another policy or another section of this policy.

ALL of the following

I: Targeted mutation analysis for a known familial variant for a genetic condition is considered medically necessary when:
Medically necessary when
- The member/enrollee is 18 years or older (if the condition is adult-onset).
- The member/enrollee has a close relative with a known pathogenic or likely pathogenic variant causing the condition.

General Principles, Evaluation Criteria, and Definitions

General principles and evaluation criteria (introductory)

Policy establishes assessment of clinical validity and clinical utility when determining coverage for genetic and molecular tests.

ALL of the following

Clinical validity should be measured (sensitivity, specificity, positive predictive value, negative predictive value) to determine how accurately the test identifies the condition.
Clinical utility should be considered: whether test and subsequent interventions improve health outcomes and what risks occur as a result of testing.
Tests should be evaluated per generally accepted standards of medical practice and evidence-based guidelines, including NCCN, ACOG, NSGC, ACMG, CDC ACCE model, and other referenced guidance.

Germline variants are genetic alterations in egg or sperm cells that are present in every cell and can be inherited by offspring; somatic variants arise in specific cells or cell groups and are not inherited. Genetic testing can identify germline and somatic variants for purposes of diagnosis, prognosis, determining treatment options, and assessing familial risk. Solid tumor and hematologic malignancy testing focuses on somatic oncogenic mutations to inform treatment beyond standard care.

Policy Notes & Section Summaries

Oncology Algorithmic Tests: The criteria were expanded to allow testing for a suspected or confirmed neoplasm and/or malignancy; algorithmic tests combine multiple analytes and clinical data into an algorithmic score and require demonstrated clinical validity and clinical utility for the intended oncology use.

Known Familial Variant Analysis: Several known familial variant criteria were consolidated into this general policy; targeted mutation (known familial variant) testing is intended for situations with a known pathogenic or likely pathogenic variant in a close relative and requires documentation of the familial variant and gene–disease association.

Single Gene or Multigene Panel Analysis changes: Age-based restrictions for adult-onset tests were removed; testing for adult-onset conditions now requires the presence of clinical features of the condition and assessment of clinical validity and utility.

Targeted Carrier Screening definition change: The definition was updated to include tests performed by full gene sequencing or targeted mutation analysis for pathogenic or likely pathogenic variants associated with a specific genetic condition.

Prenatal Diagnosis move: Prenatal diagnosis criteria for single-gene disorders were moved into this general policy from a separate prenatal diagnosis policy and follow referenced guidance (e.g., ACOG, NSGC) with specific parental/family risk, disease natural history, and test sensitivity/specificity requirements.

Provider Actions and Documentation Requirements

Documentation Required

Clinical evaluation and prior testing documentation

Document that a thorough clinical evaluation and prior standard testing/imaging must be recorded demonstrating that the diagnosis remains uncertain before ordering single-gene or multigene panel testing.

Document clinical features of the suspected condition.
Document prior appropriate clinical evaluation and standard laboratory tests/imaging and that diagnosis remains uncertain.

Documentation Required

Family/pedigree evidence for familial variant testing

Document a close relative with a known pathogenic or likely pathogenic variant and that an association between the gene and the disease is established when requesting targeted familial variant analysis.

Coding

This brief contains no specific code groups; coding information was moved/updated and is covered under related specific testing policies. Consult the referenced specific genetic testing and oncology policies for CPT/HCPCS and other coding guidance and any updates.

Evidence and References

Guideline references cited in this policy include: ACOG (Practice Bulletins and Committee Opinions), ACMG/AMP standards, NSGC position statements, NCCN guidelines, the CDC ACCE model, AAP/ACMG guidance, and peer-reviewed literature (e.g., Hayes et al., Burke et al.).

Key referenced guidelines and sources specifically named include ACMG position statements on clinical utility, NSGC position statements on testing minors and use of multi-gene panels, ACOG practice bulletins on carrier screening and prenatal diagnostic testing, NCCN guidelines (e.g., Occult Primary), the CDC ACCE model for test evaluation, and selected literature such as Hayes 2021 and Burke 2014.

Thresholds

Clinical validity measuresSensitivity, Specificity, Positive Predictive Value, Negative Predictive Value

Revision History

11/2024revisionLatest

Overview, coding, reference-table, background and references updated; added General Tumor Biomarker Analysis, Oncology Algorithmic Tests, and Other Tests sections; replaced 'coverage criteria' with 'criteria' throughout policy.

11/2024revisionLatest

Semi-annual review; updated title to reflect V1.2024 version; definitions and notes updated (added clinical validity and clinical utility definitions).

04/2024

Policy Summary

PayerCentene

PolicyConcert Genetic Testing: General Approach to Genetic and Molecular Testing (PDF)

Policy CodePolicy N/A

Change TypeCriteria updates and clarifications (administrative and substantive)

Effective Date

Next Review Date

SourceLink

On This Page

An association between the gene and disease has been established.

ALL of the following

Targeted mutation analysis for a known familial variant of uncertain significance is considered investigational.
Known familial VUS should not be used as the basis for targeted family testing unless reclassified to P/LP.

title':'General Criteria for Known Familial Variant Analysis for a Genetic Condition','type':'criteria_group'

nodes_not_used_dummy_to_avoid_parser_error_if_any

Genetic counseling is recommended for patients at risk for inherited disorders and those considering genetic testing; counseling helps interpret results, understand familial implications, and can reduce inappropriate testing. Coverage determinations may be affected by state regulations, national guidelines, Local or National Coverage Determinations (LCDs/NCDs), and FDA approvals, which should be reviewed when applying these criteria.

For tests more specifically addressed elsewhere, this policy directs readers to related specific genetic testing and oncology policies for detailed criteria and coding, including prenatal cell-free DNA, prenatal diagnosis, prenatal and preconception carrier screening, hereditary cancer susceptibility, molecular tumor analysis, algorithmic testing, and others.

Adult-onset condition: A condition in which signs, symptoms, or manifestations typically begin after age 18 years.

Childhood: The period of development until the 18th birthday.

Germline pathogenic or likely pathogenic variants: Mutations that occur in egg and sperm cells and are inherited by blood relatives.

Multifactorial conditions: Complex conditions caused by multiple genes or gene-environment interactions.

Close relatives: First-, second-, and third-degree blood relatives on the same side of the family (examples provided for each degree).

Clinical validity: Accuracy with which a test identifies a particular clinical condition (includes sensitivity, specificity, positive predictive value, negative predictive value as components).

Clinical utility: Risks and benefits resulting from genetic test use, including whether testing and subsequent interventions improve health outcomes.

Algorithmic test: A test that combines biomarkers and clinical data into an algorithm to generate disease risk assessment, prognosis, or clinical recommendation.

Recessive condition: A condition requiring mutations in both gene copies (autosomal recessive) or hemizygous mutation in one X chromosome for X-linked recessive.

Targeted carrier screening (updated): A 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.

Record pedigree/family evidence showing the close relative and the identified pathogenic or likely pathogenic (P/LP) variant.

Confirm and document that gene–disease association is established.

Note: testing for familial VUS is investigational and should not be used as a basis for familial testing.

Documentation Required

Pregnancy/carrier status documentation for carrier screening

For targeted carrier screening, document that the individual is pregnant or planning pregnancy (or intent to conceive) and provide evidence meeting at least one listed indication (family history of P/LP variant, partner carrier status, high‑risk population with ≥1% carrier rate, or affected first‑/second‑degree relative).

Indicate pregnancy status or intent to conceive.
Provide evidence of one qualifying indication: known familial P/LP variant in a relative; reproductive partner is a carrier; membership in a high‑carrier‑rate population (≥1%); or a first‑/second‑degree relative affected by the disorder.
Reference ACOG guidance for carrier screening panel selection and counseling.

Documentation Required

CLIA laboratory requirement for tumor and other tests

Document that tumor biomarker or other tests will be performed in a CLIA‑approved laboratory; CLIA accreditation is a required element of medical necessity for tumor biomarker analysis and for other tests in this policy.

Include the performing laboratory's CLIA approval/status.
Tumor biomarker analysis requires a confirmed neoplasm/malignancy and CLIA‑approved testing to meet medical necessity.
Other tests also require CLIA‑approved laboratory testing as stated in the policy.

Documentation Required

Assess and document clinical validity and utility

Assess and record the test's clinical validity (sensitivity, specificity, PPV, NPV) and clinical utility (how results will affect management, prognosis, therapy choice, or outcomes) per referenced frameworks and guidance.

Document measures of clinical validity (sensitivity, specificity, positive and negative predictive values).
Describe the clinical utility: how the test will impact clinical management, treatment decisions, prognosis, or reproductive risk estimates.
Reference established frameworks (e.g., CDC ACCE model, Burke et al.) and professional guidance when documenting validity and utility.

Documentation Required

Use guideline-consistent indications

Use indications and testing approaches consistent with referenced professional society guidance and document alignment with those guidelines when ordering testing.

Apply guideline‑consistent indications (examples: clinical features for single/multi‑gene tests; suspected or confirmed neoplasm for oncology algorithmic tests).
Reference NCCN, ACOG, NSGC, and ACMG guidance when applicable and document how the requested test aligns with those recommendations.

Oncology Algorithmic Tests criteria expanded to include 'suspected neoplasm and/or malignancy' (previously only confirmed neoplasm); criteria set name changed (former name: Oncology Algorithmic Tests); updated assessment for clinical validity and utility.

04/2024revised

Updated definition of targeted prenatal screening to include full gene sequencing or targeted mutation analysis for pathogenic/likely pathogenic variants; removed age restriction for Single Gene or Multigene Panel Analysis for adult-onset tests requiring clinical features; consolidated known familial variant criteria into general policy and removed subjective severity language.

03/2023administrative

Policy developed and organizational edits: replaced 'coverage criteria' phrasing with 'criteria'; added General Tumor Biomarker Analysis, Oncology Algorithmic Tests, and Other Tests; added definitions for clinical validity, clinical utility, and algorithmic test.