ModifiedUnitedHealthcarePolicy CS151TN.K

Carrier Testing Panels for Genetic Diseases (for Tennessee Only)

Medical policy governing carrier (reproductive) genetic screening panels for Medicaid and CoverKids members in Tennessee, including recommended panel sizes, indications, and tests considered not medically necessary.

Policy Summary

PayerUnitedHealthcare

PolicyCarrier Testing Panels for Genetic Diseases (for Tennessee Only)

Policy CodePolicy CS151TN.K

Change TypeDefinitions and supporting sections updatedarchived prior version

Effective DateAug 1, 2025

Next Review Date

Key ActionDocument pre-test genetic counseling and the rationale for panel size when ordering reproductive carrier screening.

SourceLink

POLICY UPDATE CHANGES

Updated definition of 'Gene Panel' and refreshed Supporting Information, Clinical Evidence, FDA, and References sections.

<=6proven panel size (general)

<=15proven panel size (with criteria)

16+not medically necessary panel size

CFTR, SMN1recommended genes

Tennessee

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08/01/2025policy updated

Coverage Criteria for Reproductive Carrier Screening

inv-01: Reproductive Carrier Screening — Covered Criteria

Covered when ALL of the following are met according to panel size:

Panels up to 6 genes: Reproductive Carrier Screening Panels comprised of up to six genes are proven and medically necessary.<=6 genes

Covered for general reproductive carrier screening.

Panels up to 15 genes with criteria: Reproductive Carrier Screening Panels of up to 15 genes are proven and medically necessary when an individual and/or their reproductive partner meets at least one of: Ashkenazi Jewish ancestry (at least one parent or grandparent of AJ descent) OR a biological first- or second-degree relative affected by one or more of the conditions evaluated by the panel.<=15 genes + ancestry or family history

Coverage limited to specified ancestry or affected relative criteria.

inv-02: Not Medically Necessary

Not medically necessary conditions: Reproductive Carrier Screening Panels comprised of 16 or more genes; Carrier Screening for all other indications (outside reproductive carrier screening).>=16 genes or non-reproductive indications

These uses are considered unproven and not medically necessary due to insufficient evidence of efficacy.

inv-03: Coverage-related clinical criteria (guideline-derived)

Professional society guidance summarized relevant testing priorities and criteria:

Core recommended screening: Offer carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and thalassemias/hemoglobinopathies to all individuals who are pregnant or considering pregnancy.

ACOG Committee Opinions and Practice Advisory recommend these core tests.

When to consider ECS: Consider expanded carrier screening (ECS) when consensus criteria are met: disorder carrier frequency (e.g., >1/100 per ACOG criteria), well-defined phenotype with detrimental impact, early-onset/severe presentation, and when prenatal diagnosis would affect management — and only after genetic counseling and shared decision-making.

ACOG and NSGC guidance emphasize criteria and counseling prior to ECS.

ACMG tier recommendations: Follow ACMG tiered approach: offer Tier 3 (≥1/200 carrier frequency including X-linked conditions) to all pregnant patients and those planning pregnancy; reserve Tier 4 (<1/200) for consanguinity or specific family/personal history.

ACMG practice resource recommends tier-based screening and population-neutral paradigms.

Carrier screening performed for indications other than reproductive carrier screening (for example, testing outside the context of preconception or prenatal reproductive risk assessment) is considered unproven and not medically necessary. The policy explicitly lists "Carrier Screening for all other indications" among services lacking sufficient evidence of efficacy to support coverage.

Available studies of expanded carrier screening have substantial heterogeneity in study designs, laboratory methods, and populations, and many are observational with high risk of bias. These limitations reduce the ability to draw definitive conclusions about the clinical impact of ECS compared with guideline-based minimal screening and constrain claims of demonstrated benefit.

The Royal College of Obstetricians and Gynaecologists (RCOG) concludes there is insufficient evidence to recommend routine testing of all prospective parents. RCOG also highlights a lack of standardization among ECS panels and advises that providers understand the specific panel composition and rely on clinicians with appropriate genetics expertise for interpretation.

Panels that include 16 or more genes are designated in this policy as unproven and not medically necessary. Rationale includes insufficient evidence of efficacy for very large panels, variability in panel composition and detection rates across laboratories, and observational study designs with risk of bias that limit demonstrated clinical utility. Large panels may also increase identification of conditions with mild phenotypes and the downstream counseling and resource burden without clear evidence of improved reproductive outcomes.

RCOG does not endorse routine, universal expanded carrier screening for all prospective parents given the current evidence base. The organization recommends targeted testing for those at elevated risk and emphasizes the need for standardized panel composition and appropriate clinical interpretation before broader implementation.

Indications Covered by This Policy

inv-31: Reproductive carrier screening for individuals planning pregnancy or currently pregnant; panels up to 6 genes for general use; up to 15 genes when ancestry or affected relative criteria met.

Reproductive carrier screening is intended to identify at-risk couples and inform reproductive decision-making:

Indication - preconception or prenatal: Preconception and prenatal carrier screening is intended to identify individuals or couples at increased risk of having a child with an autosomal recessive or X-linked condition and to inform reproductive decision-making and availability of prenatal diagnostic options.

ECS and targeted panels have been reported to influence pregnancy management and diagnostic testing decisions.

inv-32: Preconception and prenatal carrier screening to identify at-risk couples and inform reproductive decision-making.

Purpose: Preconception and prenatal carrier screening is used to identify at-risk couples and can inform pregnancy management decisions, including pursuit of prenatal diagnostic testing or other reproductive options.

Cohort studies report changes in reproductive planning and use of prenatal diagnosis after ECS.

Applicable Codes and Panel Thresholds

Applicable CPT/PLA Codes (reference)mixed

0400U	Obstetrics (expanded carrier screening), 145 genes by next generation sequencing, fragment analysis and multiplex ligation dependent probe amplification, DNA, reported as carrier positive or negative.
81412	Ashkenazi Jewish associated disorders (e.g., Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Tay-Sachs disease), genomic sequence analysis panel, must include sequencing of at least 9 genes, including ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1.
81443	Genetic testing for severe inherited conditions (e.g., cystic fibrosis, Ashkenazi Jewish-associated disorders [e.g., Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia), genomic sequence analysis panel, must include sequencing of at least 15 genes (e.g., ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH).
81479	Unlisted molecular pathology procedure

Panel gene count thresholds

Panel gene count thresholdsReproductive carrier screening panels of up to 6 genes are proven and medically necessary; panels of up to 15 genes are proven and medically necessary when the individual or their reproductive partner meets at least one criterion (Ashkenazi Jewish ancestry OR a biological first- or second-degree relative affected by one or more conditions evaluated by the panel). Panels comprised of 16 or more genes are considered unproven and not medically necessary.

Covered without additional criteriaPanels up to 6 genes (general reproductive carrier screening)

Covered with ancestry or family-history criteriaPanels up to 15 genes when Ashkenazi Jewish ancestry (≥1 parent or grandparent) OR a biological first- or second-degree relative is affected by a condition on the panel

Not medically necessaryPanels of 16 or more genes and carrier screening for non-reproductive indications are unproven and not medically necessary

Provider Actions, Documentation, and Billing Guidance

Note

Code reference and applicability

The listed procedure and PLA codes are provided for reference only; inclusion does not imply coverage or guarantee reimbursement and tests billed under these codes must meet the policy’s medical necessity criteria and any applicable benefit plan requirements.

Codes shown in policy: 0400U, 81412, 81443, 81479.
Refer to federal, state, or contractual benefit plan for coverage and reimbursement rules.

Note

Prior authorization not specified

This policy does not specify any explicit prior authorization requirements in the provided excerpts.

Prior Authorization

Verify plan-level prior authorization

Eligibility Requirements

This policy does not list additional, separate top-level eligibility nodes beyond the covered and not medically necessary constructs described elsewhere in the document. Coverage determinations are driven by panel size thresholds and specified ancestry or family-history criteria; apply the detailed criteria under the "Covered Criteria" and "Not Medically Necessary" sections when assessing eligibility.

There are no additional standalone eligibility requirements provided in the extracted brief. Refer to the covered indications and family-history criteria (e.g., Ashkenazi Jewish ancestry or an affected first- or second-degree relative) for guidance on member eligibility for panels up to 15 genes.

No separate prior testing prerequisites or sequencing of tests (step therapy) are specified as top-level eligibility requirements in the brief. Evaluate requests against the policy’s panel-size and clinical criteria instead.

The brief does not include distinct specialty- or provider-specific eligibility nodes. Ordering and interpretation are expected to involve clinicians with appropriate genetics knowledge and pre-test genetic counseling is strongly recommended, per the policy guidance.

There are no additional member- or program-specific eligibility nodes extracted in the brief. Apply the state and contractual benefit plan rules as noted in the Instructions for Use when determining coverage applicability.

The extracted brief contains no further standalone eligibility criteria related to laboratory accreditation or specific test platforms; laboratories should nonetheless report methodology and test composition consistent with the code descriptions referenced in the policy.

Not Covered / Exclusions

Reproductive carrier screening panels comprised of 16 or more genes are considered not covered (not medically necessary) under this policy. Additionally, carrier screening performed for non-reproductive indications is not covered. For reproductive carrier screening, apply the policy’s coverage thresholds and ancestry/family-history criteria to determine medically necessary panels.

Evidence gaps, inconsistency in laboratory methods and panel composition, and predominance of observational study designs with potential bias limit the ability to demonstrate clinical utility for very large or pan-ethnic expanded carrier screening panels. These study limitations constrain claims that ECS improves reproductive outcomes beyond targeted guideline-based screening.

Because RCOG advises that routine universal ECS for all prospective parents is not supported by current evidence, the policy does not endorse such universal testing. This position reinforces that universal ECS without demonstrated benefit may not be an appropriate basis for coverage.

Definitions

Carrier Screening

DefinitionCarrier screening: Genetic testing performed on an individual without symptoms to determine whether that individual may have a genetic variant associated with a disorder that could be passed to biological children (ACOG 2017, reaffirmed 2023).

PurposeIdentify individuals or reproductive partners at risk of having a child with an autosomal recessive or X-linked condition.

ContextMay be offered pan-ethnically or based on ancestry/family history per professional society guidance (e.g., ACOG, ACMG).

First‑Degree Relative

DefinitionFirst‑Degree Relative: includes parents, siblings, and children (NCCN, 2025).

Use in policyEligibility for expanded panel coverage (up to 15 genes) may be met if a biological first‑degree relative is affected by one or more conditions evaluated by the panel.

Background

Carrier screening is performed to identify individuals or reproductive partners at increased risk of having children with autosomal recessive or X-linked conditions. Professional societies recommend offering screening for cystic fibrosis (CFTR), spinal muscular atrophy (SMN1), and hemoglobinopathies/thalassemias to individuals who are pregnant or considering pregnancy. Screening may be pan-ethnic or tailored by ancestry, and genetic counseling is strongly recommended before testing.

Policy Revision History

2025-08-01policy_revisionLatest

Updated definition of 'Gene Panel' and refreshed Supporting Information, Clinical Evidence, FDA, and References sections; previous policy version CS151TN.J archived.

Policy Summary

PayerUnitedHealthcare

PolicyCarrier Testing Panels for Genetic Diseases (for Tennessee Only)

Policy CodePolicy CS151TN.K

Change TypeDefinitions and supporting sections updatedarchived prior version

Effective DateAug 1, 2025

Next Review Date

Key ActionDocument pre-test genetic counseling and the rationale for panel size when ordering reproductive carrier screening.

SourceLink

On This Page

inv-33: Individuals who are pregnant or considering pregnancy and their partners — professional recommendations (CF, SMA, hemoglobinopathy).

Who should be offered screening: Offer carrier screening (at minimum CF, SMA, and hemoglobinopathy/thalessemia testing) to individuals who are pregnant or considering pregnancy and their partners; consider ECS per NSGC and after counseling as a conditional option.

ACOG recommends CF/SMA/hemoglobinopathy screening for all pregnant or preconception individuals; NSGC conditionally recommends offering ECS to reproductive individuals and partners.

Verify the member’s federal, state, and contractual benefit plan terms for any prior authorization or coverage rules before ordering/testing; UnitedHealthcare may use third‑party tools to assist benefit administration.

Follow the applicable benefit plan language when it differs from this policy.

Step Therapy

Panel size and criteria

Coverage is tiered by panel size: panels of up to 6 genes are considered proven and medically necessary; panels of up to 15 genes are medically necessary only when ancestry or family‑history criteria are met.

Panels ≤6 genes: proven and medically necessary.
Panels ≤15 genes: medically necessary when the individual or partner has Ashkenazi Jewish ancestry or a first‑ or second‑degree relative affected by a condition on the panel.

Step Therapy

Step therapy not specified

No step therapy or mandated sequencing of tests (for example, ordering a limited panel first then expanding) is specified in the document excerpts.

Note

Tiered/step approach per guidelines

Professional society guidance (ACMG, ACOG) describes tiered or targeted approaches and recommends offering core screening (e.g., CFTR and SMN1) as part of these frameworks.

ACMG tiered approach: Tier 1 = CF + SMA + risk‑based; Tier 3 recommended to all pregnant patients and those planning pregnancy.
ACOG recommends offering CF, SMA, and hemoglobinopathy screening to all individuals who are pregnant or considering pregnancy.

Documentation Required

Genetic counseling recommendation

Pre‑test genetic counseling is strongly recommended to inform the person being tested about the advantages and limitations of carrier screening.

Counseling should address test scope, limitations, and potential reproductive implications.

Documentation Required

Genetic counseling documentation

Document pre‑ and post‑test genetic counseling when possible, including the rationale for panel size when testing choices impose substantial counseling needs.

Record counseling content and decisions, especially for larger or genomics‑based panels due to increased preparation and follow‑up time.

Documentation Required

Documentation of offer and counseling

Document that carrier screening (including offer of CF, SMA, hemoglobinopathy screening) was discussed and that shared decision‑making/genetic counseling occurred when ECS is performed.

Indicate which tier or panel was offered and the clinical rationale per professional society recommendations.

Denial Risk

Panel size exceeding policy limits

Reproductive carrier screening panels comprised of 16 or more genes are considered unproven and not medically necessary and may be denied.

Denial Risk

Implementation and resource risk

Ordering large or very broad panels may increase the counseling burden, detect mild or unfamiliar phenotypes, and strain clinical resources needed for appropriate follow‑up.

Studies report increased counselor preparation time (median 64 minutes) and potential implementation challenges.
Be prepared for follow‑up testing of partners and complex result interpretation.

Billing Rule

Benefit plan compliance required

When policy language conflicts with federal, state, or contractual benefit plan requirements, the applicable benefit plan governs and failure to follow those requirements may result in denial.

Check and follow the member’s specific plan terms before ordering/testing.

Documentation Required

Pre-test counseling required (recommendation)

Pre‑test genetic counseling is strongly recommended and should be documented; ordering clinicians are expected to ensure counseling is provided before proceeding with carrier screening.

Policy emphasizes counseling prior to Carrier Screening to discuss advantages/limitations as applied to the individual.

Note

Ensure counseling before ordering

The policy recommends pre‑test genetic counseling prior to ordering carrier screening; while it does not explicitly restrict who may order, the ordering clinician should ensure appropriate counseling and interpretation resources are available.

Multiple provider types (e.g., OB/GYN, fertility specialists, genetic counselors) may refer or order testing in practice, but counseling remains important.

Note

Ordering clinician roles in practice

Participants in studies were referred by fertility specialists, obstetricians/gynecologists, and genetic counselors, indicating multiple provider types commonly order or refer for carrier screening.

Documentation Required

Provider expertise for testing and interpretation

Testing and interpretation should be performed or overseen by clinicians with appropriate genetics knowledge; interpretation of ECS panels should be done only by providers with clinical genetics expertise.

Providers should involve genetic counselors or clinicians experienced in genetics for interpretation and patient counseling.

ExamplesParent, sibling, child.

Second‑Degree Relative

DefinitionSecond‑Degree Relative: includes half‑siblings, aunts, uncles, grandparents, grandchildren, and nieces/nephews (NCCN, 2025).

Use in policyEligibility for expanded panel coverage (up to 15 genes) may be met if a biological second‑degree relative is affected by one or more conditions evaluated by the panel.

ExamplesHalf‑sibling, aunt/uncle, grandparent, grandchild, niece/nephew.

Gene Panel

DefinitionGene Panel: a testing panel that looks for genetic changes/variants in more than one gene in the same test (CDC 2024; MedlinePlus 2025).

ImplicationPanel composition and number of genes determine coverage tiering and medical necessity per this policy.

ExamplesPanels referenced include small targeted panels (≤6 genes), ancestry‑based panels, and larger multigene panels up to 15 genes for specified criteria.

Expanded Carrier Screening (ECS)

DefinitionExpanded carrier screening (ECS): multigene carrier testing panels (ranging from dozens to hundreds of genes) or genomic sequencing–based approaches offered pan‑ethnically to identify carrier status for autosomal recessive and X‑linked conditions.

Panel size examplesStudy panels reported range from ~23 genes up to 274 genes, 311, 400 genes, and genomic approaches covering hundreds of conditions.

ConsiderationsACOG and other societies recommend consensus criteria for inclusion (carrier frequency, well‑defined phenotype, detrimental impact) before considering ECS; panel heterogeneity affects comparability and clinical utility.

Detection rate (DR) and recurrence risk (RR)

DefinitionDetection rate (DR) and recurrence risk (RR): metrics calculated (e.g., by summing disease allele frequencies of pathogenic variants) to estimate the probability of detecting carriers (DR) and the recurrence risk for recessive conditions; methods vary across laboratories and affect reported DR/RR.

Method noteDifferences in calculation methods, variant detection (analytical sensitivity), and laboratory reporting can produce wide variation in DR and RR across labs.

Clinical importanceAccurate DR and RR statistics are critical for reproductive decision‑making and counseling.

ACMG Tiered Approach

DefinitionACMG tiered approach: a tiered carrier screening framework that stratifies conditions by carrier frequency to guide panel offerings (Tier 1: CF+SMA+risk‑based; Tier 2: ≥1/100 carrier frequency; Tier 3: ≥1/200 including X‑linked; Tier 4: <1/200).

Key recommendationsTier 3 screening should be offered to all pregnant patients and those planning pregnancy; Tier 4 should be reserved for known/possible consanguinity or specific family/personal history.

TerminologyACMG recommends using the term 'carrier screening' rather than 'expanded carrier screening' and promotes population‑neutral paradigms for screening.