Concert Genetic Testing: General Approach to Genetic and Molecular Testing (PDF)
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Policy defines general medical necessity criteria for genetic and molecular tests not specifically addressed elsewhere, including known familial variant analysis, targeted carrier screening, single-gene or multigene panel analysis, prenatal diagnosis for single-gene disorders, and other laboratory tests; includes definitions, references, and counseling recommendations.
Updated definition of targeted carrier screening to include full gene sequencing or targeted mutation analysis and moved prenatal diagnosis criteria into this policy; removed age restriction for adult-onset single-gene panel testing.
Replaced 'investigational' language with 'Current evidence does not support…' throughout policy.
Removed criteria for General Criteria for Tumor Biomarker Analysis and General Criteria for Oncology Algorithmic Tests; these now fall under General Criteria for Other Tests.
Removed note that criteria are intended for evaluation of genetic testing not addressed elsewhere and that state-level regulations may necessitate review of National Guidelines, NCDs/LCDs and/or FDA approvals.
Replaced 'investigational' policy statement with 'Current evidence does not support…' wording throughout the policy.
Background, rationale, and references were updated.
Coverage Summary
Policy provides general medical necessity criteria for genetic and molecular tests not specifically addressed elsewhere and applies a consolidated approach across five main criteria sets: Known familial variant analysis, Targeted carrier screening, Single-gene or multigene panel analysis, Prenatal diagnosis for single-gene disorders, and Other laboratory tests.
Each criteria set requires documentation of specific conditions (for example, parental or family carrier/variant status for familial variant analysis and prenatal diagnosis, pregnancy or preconception status and population carrier frequency thresholds for targeted carrier screening, relevant clinical features and prior diagnostic workup for single- or multi-gene testing, and demonstrated test validity/utility for other tests).
The policy coverage stance is covered_with_criteria: tests are considered medically necessary when the applicable set of detailed criteria are met; when criteria are not met, the policy states that Current evidence does not support the requested testing.
Medical‑Necessity Criteria
General Criteria for Known Familial Variant Analysis for a Genetic Condition
Targeted mutation analysis for a known familial variant is medically necessary when ALL of the following are met:
ALL of the following
- 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
- An association between the gene and disease has been established
Known Familial Variant Analysis - Not Supported
Current evidence does not support targeted mutation analysis when ANY of the following apply:
ANY of the following
- Known familial variant is of uncertain significance
- Known familial variant analysis for all other indications not specified as medically necessary
General Criteria for Targeted Carrier Screening
Carrier screening for a genetic disorder via full gene sequencing or targeted mutation analysis may be medically necessary when ALL of the following are met:
ALL of the following
- The member/enrollee is considering pregnancy or is currently pregnant
- The genetic disorder is a recessive condition with a childhood onset
One of the following
- The member/enrollee has a close relative with a known pathogenic or likely pathogenic variant associated with the disorder
- The member/enrollee's reproductive partner is a carrier for the genetic disorder
- The member or the member/enrollee's reproductive partner are members of a population known to have a carrier rate of 1% or higher for the genetic condition>= 1%
Carrier frequency threshold per ACOG
- The member or the member/enrollee's reproductive partner has a first- or second-degree relative who is affected with the genetic disorder
Targeted Carrier Screening - Not Supported
Current evidence does not support carrier screening for:
ANY of the following
- All other indications not described in the medically necessary criteria
General Criteria for Single Gene or Multigene Panel Analysis
Genetic testing via single-gene or multigene panel analysis may be medically necessary when ALL of the following are met:
ALL of the following
- The member/enrollee displays clinical features of the suspected genetic condition
- The diagnosis remains uncertain after appropriate clinical evaluation and other standard laboratory tests/imaging/etc. have been performed
- The test has clinical validity, demonstrated by accurately determining diagnostic, prognostic or clinical information for a disease
- The test has clinical utility, as demonstrated by at least one qualifying impact on management or prognosis (see policy for examples)
Single Gene or Multigene Panel Analysis - Not Supported
Current evidence does not support single-gene or multigene panel analysis for:
ANY of the following
- All other indications not described as medically necessary
Prenatal Diagnosis for Single Gene Disorders
Prenatal diagnostic testing (amniocentesis, CVS, PUBS) may be medically necessary when ALL of the following apply:
ALL of the following
Member meets any of the following parental/genetic risk criteria
- At least one biological parent has a known pathogenic variant for an autosomal dominant condition
- Both biological parents are known carriers of an autosomal recessive condition
- One biological parent is suspected or known to be a carrier of an X-linked condition
Test demonstrates clinical utility via one of the following
- The test will determine if a particular therapeutic intervention is effective (or ineffective) in the member/enrollee, or if a particular intervention may be harmful
- The test will directly impact the member/enrollee's clinical management
- The test will determine prognosis
- The test will provide or refine estimates of natural history, recurrence risk, or predicted course of the genetic condition
- There is no known pathogenic or likely pathogenic familial variant for which targeted variant analysis would be more appropriate
- Non-genetic causes for the member/enrollee's clinical features have been ruled out (e.g., pathogens, drug toxicity, environmental factors)
- An association with the gene or multigene panel and disease has been established
Prenatal Diagnosis for Single Gene Disorders - Not Supported
Current evidence does not support prenatal diagnosis via amniocentesis, CVS, or PUBS for the following:
ANY of the following
- Adult-onset single-gene disorders (e.g., hereditary cancer syndromes such as BRCA1/2) - considered not medically necessary
- Variants of unknown significance (VUS)
- All other indications not described as medically necessary
General Criteria for Other Laboratory Tests
Other laboratory tests are considered medically necessary when ALL of the following are met:
ALL of the following
- The member/enrollee displays relevant clinical features consistent with the intended use of the test
- The test has clinical validity, demonstrated by accurately determining diagnostic, prognostic or clinical information for a disease
- The test has clinical utility, demonstrated by at least one of: determining therapeutic efficacy/harm, directly impacting clinical management, determining prognosis, or providing/refining estimates of natural history/recurrence/predicted course
- Testing is performed in a Clinical Laboratory Improvement Amendments (CLIA) approved laboratory
Other Laboratory Tests - Not Supported
Current evidence does not support other laboratory tests for:
ANY of the following
- All other indications not described as medically necessary
Definitions and Policy Scope
Policy-level notes and structural changes cited in revision history:
ALL of the following
- Removed criteria for General Criteria for Tumor Biomarker Analysis and General Criteria for Oncology Algorithmic Tests as those now fall under General Criteria for Other Tests.
- Removed note that criteria below are intended for evaluation of genetic testing not addressed elsewhere and that state-level regulations may necessitate review of National Guidelines, NCDs/LCDs and/or FDA approvals.
- Replaced 'investigational' policy statement language with 'Current evidence does not support…' throughout the policy.
- Background, rationale, and references were updated.
Provider Actions & Prior Authorization
Clinical evaluation and prior testing documentation
For single-gene or multigene panel testing, document the member's clinical features and that the diagnosis remains uncertain after appropriate clinical evaluation and other standard laboratory tests/imaging/etc. have been performed; ensure testing is performed in a CLIA-certified laboratory and document laboratory usage.
Prenatal diagnostic test appropriateness
Ensure prenatal diagnostic testing (amniocentesis, CVS, PUBS) is reserved for cases meeting parental carrier/variant risk criteria and demonstration of clinical utility; when a familial pathogenic or likely pathogenic variant is known, targeted familial variant testing is preferred.
Genetic counseling recommendation
Pre-test and post-test genetic counseling is strongly advised and should be documented to facilitate informed decision-making, discussion of possible secondary/incidental findings, and planning for return of results.
Adhere to referenced guidelines and documentation
Providers should review applicable National Guidelines, NCDs/LCDs, and FDA approvals where state regulations require, and document the medical necessity rationale when ordering genetic or molecular tests.
Genetic counseling/ethical considerations for minors and prenatal testing
Follow professional society position statements (ACMG, NSGC, ACOG) regarding testing of minors for adult-onset conditions, prenatal testing, carrier screening, and counseling; document counseling and informed consent as appropriate.
Coding
| No codes listed |
Background & Evidence
Background consolidates general criteria for genetic and molecular testing not otherwise addressed and incorporates guideline and professional society references including ACOG, ACMG/AMP, NSGC, and CDC (ACCE model) to inform evaluation of analytic and clinical validity and clinical utility.
The policy emphasizes that tests should demonstrate clinical validity (accuracy: sensitivity, specificity, predictive values) and clinical utility (meaningful impact on management, prognosis, therapy, or family/reproductive decisions), and that testing should be performed in a CLIA‑approved laboratory when applicable.
Professional guidance cited in the rationale supports use of multigene panels when appropriate, recommends deferring predictive testing of minors for adult-onset conditions unless management is affected, and advises that pre-test and post-test genetic counseling is strongly recommended and documented to facilitate informed decision-making and address secondary/incidental findings.
Definitions
| Term | Definition |
|---|---|
| Adult-onset condition | A condition in which signs, symptoms, or manifestations typically begin after age 18. |
| Close relatives | First-, second-, and third-degree blood relatives (first-degree: parents, siblings, children; second-degree: grandparents, aunts, uncles, nieces, nephews, grandchildren, half siblings; third-degree: great grandparents, great aunts, great uncles, great grandchildren, and first cousins). |
| Clinical validity | Accuracy with which a test identifies a particular clinical condition, including sensitivity, specificity, positive predictive value, and negative predictive value. |
| Clinical utility | Risks and benefits resulting from genetic test use; whether testing and subsequent interventions improve health outcomes or impact management. |
| Targeted carrier screening | 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. |
| Germline pathogenic or likely pathogenic variants | Mutations in egg or sperm cells that are inherited and may be passed down in families (germline variants). |
| Recessive condition | Condition where both copies of a gene have a mutation (autosomal recessive) or an X-linked recessive condition in hemizygous individuals. |
| Health Plan | Means a health plan that has adopted this clinical policy and that is operated or administered, in whole or in part, by Centene Management Company, LLC, or affiliates, as applicable. |
Revision History
Policy developed. Semi-annual review. Updated title to reflect V1.2024 version; overview, coding, reference-table, background and references updated. Replaced 'coverage criteria' with 'criteria'; removed Policy Reference Table. For Single Gene or Multigene Panel Analysis: removed 'conventional diagnostic testing' and added 'clinical evaluation and other standard…'. Added General Tumor Biomarker Analysis, Oncology Algorithmic Tests, and Other Tests. Notes/definitions and background/rationale updated and NSGC added.
Semi-annual review. Updated title to reflect V1.2024 version; expanded Oncology Algorithmic Tests criteria (added 'suspected neoplasm and/or malignancy'), consolidated several Known Familial Variant criteria into this policy, removed subjective criteria points, and updated coverage criteria assessing clinical validity and utility across sets; coding, background, references updated.
Semi-annual review. Updated Oncology Algorithmic Tests criteria for consistency with guidelines; continued consolidations and rewording for clarity; coding, reference-table, background and references updated. Approval Date = 04/24.
Semi-annual review. Updated the definition of targeted prenatal screening to include full gene sequencing or targeted mutation analysis; removed age restriction criteria from Single Gene or Multigene Panel Analysis for adult-onset tests; added definition for autosomal recessive condition; moved Prenatal Diagnosis for Genetic Conditions into this policy; updated NCCN guideline references. (Revision Date = 08/24 / Approval Date = 11/24 recorded in subsequent entries.)
Semi-annual/annual review culminating in V1.2025: Updated targeted carrier screening definition to 'full gene sequencing or targeted mutation analysis'; moved prenatal diagnosis into policy; removed criteria for Tumor Biomarker Analysis and Oncology Algorithmic Tests into 'Other Tests' and removed the prior note about state-level regulations preceding criteria; replaced 'investigational' language with 'Current evidence does not support…' throughout; background, rationale, and references refreshed. Noted multiple semi-annual revisions since 03/23 and title/version updates; 11/24–11/25 revisions clarified criteria and consolidated/removals of tumor biomarker and oncology algorithmic criteria into 'Other Tests'.
Annual review: Removed criteria for General Criteria for Tumor Biomarker Analysis and General Criteria for Oncology Algorithmic Tests as they now fall under General Criteria for Other Tests; removed the prefatory note about state-level regulations necessitating review of National Guidelines, NCDs/LCDs and/or FDA approvals; replaced 'investigational' wording with 'Current evidence does not support…' throughout; background, rationale, and references updated. (Approval Date = 12/25 recorded.)
Replaced 'investigational' language with standardized non-coverage phrasing 'Current evidence does not support…' throughout the policy.
Administrative reorganization: Removed criteria for General Criteria for Tumor Biomarker Analysis and General Criteria for Oncology Algorithmic Tests; these now fall under General Criteria for Other Tests.
Terminology and editorial updates: Updated background, rationale, and references; standardized wording and refreshed guideline references (ACOG, ACMG, NSGC, CDC, NCCN, etc.).
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