ModifiedUnitedHealthcarePolicy CS1S1KY.07

Carrier Testing Panels for Genetic Diseases (Kentucky Only)

This policy governs coverage and medical necessity criteria for reproductive carrier genetic screening panels for UnitedHealthcare members in Kentucky, including guidance on panel size, Ashkenazi Jewish–focused panels, and recommendations for pre-test genetic counseling.

Policy Summary

PayerUnitedHealthcare

PolicyCarrier Testing Panels for Genetic Diseases (Kentucky Only)

Policy CodePolicy CS1S1KY.07

Change TypeDefinitions and supporting sections updated

Effective DateJul 1, 2025

Next Review Date

Key ActionDocument that pre-test genetic counseling was offered and verify plan-specific coverage and any UnitedHealthcare prior authorization requirements before testing.

SourceLink

POLICY UPDATE CHANGES

Definitions updated for 'Gene Panel' and clinical evidence, FDA, and references sections were updated to reflect current information; previous policy version CS1S1KY.06 archived.

≤6panel size proven and medically necessary without additional criteria

≤15panel size proven and medically necessary with specified criteria

16+panels considered unproven and not medically necessary

CF & SMAACOG recommended core tests

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policy applies only to

Coverage Criteria for Reproductive Carrier Screening

Reproductive Carrier Screening

Covered when the following panel-size–based criteria are met:

Reproductive Carrier Screening up to 6 genes: Reproductive carrier screening panels of up to six genes are proven and medically necessary.<=6 genes

Supported by policy statement.

Reproductive Carrier Screening up to 15 genes with qualifying criteria: Reproductive carrier screening panels of up to 15 genes are proven and medically necessary when an individual and/or their reproductive partner meet at least one of the following: (1) a biological first- or second-degree relative has been affected by one or more of the conditions evaluated by the panel; or (2) Ashkenazi Jewish ancestry (individual or reproductive partner has at least one parent or grandparent of Ashkenazi Jewish descent).<=15 genes + family history or AJ ancestry

Two qualifying criteria specified.

Coverage-relevant evidence and guideline statements

Guideline statements and evidence summaries that informed the coverage stance:

ACOG baseline recommendations: Offer carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and hemoglobinopathies to all individuals who are pregnant or considering pregnancy; hemoglobinopathy testing may be performed using hemoglobin electrophoresis or molecular genetic testing and should be offered regardless of self-reported race/ethnicity.

ACOG Committee Opinions (2017, reaffirmed) and 2022/2024 guidance cited.

Evidence on expanded/genomic approaches: Expanded or genomic sequencing–based carrier screening can identify substantially more findings (examples: NextGen reported reporting of up to 728 condition classes with 78% of participants having at least one finding; Haque et al. modeled fetal risk across large commercial ECS cohorts), but implementation raises concerns about clinical utility, counseling burden, and workflow impact.

Supported by cohort studies (NextGen, Haque et al.) showing high detection rates and increased counseling time.

Counseling and follow-up implications: Positive results from ECS commonly prompt partner testing and require pre- and post-test genetic counseling; genomic-scale screening substantially increases counseling workload (NextGen reported median 64 minutes preparation per positive result).

Guideline-informed coverage considerations

Professional society recommendations that inform coverage and testing considerations:

ACOG recommendations and ECS criteria: ACOG recommends offering hemoglobinopathy testing to all individuals planning pregnancy or at the first prenatal visit if no prior testing has been performed, and recommends offering carrier screening for CF and SMA to all individuals who are pregnant or considering pregnancy. ACOG advises that if ECS is considered, conditions included should have a well-defined, early-onset, and clinically significant phenotype, have carrier frequency >1/100, be prenatally diagnosable, and panels should not include adult-onset conditions.

ACOG Committee Opinions and reaffirmations cited.

ACMG tiered approach: ACMG recommends a tiered carrier screening strategy: Tier 3 (includes autosomal recessive and X-linked conditions) should be offered to all pregnant patients and those planning pregnancy; Tier 4 screening is reserved for known or possible consanguinity or when family/personal history warrants broader testing.

ACMG Practice Resource (Gregg et al., 2021).

NSGC conditional recommendation: NSGC conditionally recommends offering expanded carrier screening (ECS) to all individuals considering reproduction, pregnant individuals, and their partners, with shared decision-making that considers individual values, access barriers, and counseling resources.

Reproductive carrier screening panels composed of 16 or more genes are considered unproven and not medically necessary. This policy explicitly lists Reproductive Carrier Screening Panels comprised of 16 or more genes and carrier screening for other unspecified indications as not supported due to insufficient evidence of efficacy, and such tests may be denied when submitted for coverage.

The American College of Obstetricians and Gynecologists (ACOG) advises that carrier screening panels should not include adult-onset conditions. Panels that report adult-onset conditions as part of routine reproductive carrier screening are discouraged and not aligned with ACOG consensus criteria for carrier panel composition.

Panel composition should prioritize conditions recommended by professional societies: ACOG recommends including cystic fibrosis (CFTR) and spinal muscular atrophy (SMN1) as core tests, and hemoglobinopathy testing (by electrophoresis or molecular methods) should be offered to all individuals planning pregnancy or at first prenatal visit if not previously performed. Routine, universal genomic-scale testing of all prospective parents is not currently recommended by some organizations due to limited standardization of ECS panels and insufficient evidence to support broad implementation.

The rationale for deeming panels of 16 or more genes unproven and not medically necessary is based on the policy determination that evidence of clinical utility and efficacy for broader multi-gene reproductive carrier panels is insufficient. Therefore, panels beyond the defined supported sizes lack demonstrated benefit for routine reproductive carrier screening and are excluded from coverage.

Genomics-based carrier screening approaches that primarily report adult-onset conditions or broad secondary findings unrelated to reproductive risk are discouraged for routine carrier screening and are not supported by ACOG panel criteria. Reporting of such findings as part of reproductive carrier screening is therefore not covered under this policy.

Covered Indications

Reproductive carrier screening for individuals planning pregnancy or currently pregnant

Covered reproductive carrier screening for individuals planning pregnancy or who are currently pregnant when criteria below are met:

Panels up to 6 genes: Reproductive carrier screening panels comprised of up to six genes are proven and medically necessary for individuals planning pregnancy or who are currently pregnant.<=6 genes

Includes strong recommendation to include CFTR and SMN1 testing.

Panels up to 15 genes with qualifying family history or ancestry: Reproductive carrier screening panels comprised of up to 15 genes are proven and medically necessary when the individual and/or their reproductive partner meet at least one of the following: (1) a biological first- or second-degree relative affected by one or more of the conditions evaluated by the panel; or (2) Ashkenazi Jewish ancestry (individual or reproductive partner has at least one parent or grandparent of Ashkenazi descent).<=15 genes + first-/second-degree relative affected OR AJ ancestry

AJ-focused panels may include conditions more prevalent in Ashkenazi Jewish descent (examples listed in policy).

Eligibility Requirements

Coverage for reproductive carrier screening panels of up to 15 genes requires that the individual or their reproductive partner have a documented biological first- or second-degree relative affected by one or more of the conditions evaluated by the panel. This family-history requirement must be present to meet medical necessity for panels larger than the base covered size.

No additional eligibility criteria are specified in this placeholder item.

ACOG recommends offering hemoglobinopathy testing (by hemoglobin electrophoresis or molecular genetic testing) to all individuals planning pregnancy or at the first prenatal visit if no prior testing has been performed. This recommendation should be considered when assessing eligibility for carrier testing and when documenting prior testing status.

This inventory consolidates duplicate ACOG guidance: hemoglobinopathy testing should be offered to all individuals planning pregnancy or at first prenatal visit when prior testing has not been completed; consider this recommendation when determining test necessity.

ACOG guidance consistently emphasizes offering hemoglobinopathy testing to individuals planning pregnancy or at the first prenatal visit if prior testing has not been performed; providers should document prior testing and offer hemoglobinopathy screening accordingly.

Provider Actions and Documentation

Note

Offer recommended carrier screening tests

Offer recommended carrier screening tests per professional guidelines. ACOG recommends offering carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and hemoglobinopathy/thalassemia testing to all individuals who are pregnant or considering pregnancy. Providers should offer these core tests and consider additional screening consistent with patient ancestry, family history, and shared decision-making.

Offer CF, SMA, and hemoglobinopathy testing to all individuals planning pregnancy or at the first prenatal visit.
Consider panel testing guided by ACOG/NSGC recommendations and patient-specific factors.

Documentation Required

Genetic counseling and follow-up documentation

Pre-test genetic counseling is strongly recommended prior to ordering carrier screening. Document counseling and the patient's informed decision in the medical record. If testing identifies a positive or uncertain result, arrange appropriate follow-up, including partner testing when indicated, referral to genetics/genetic counseling, and documentation of those actions.

Applicable Procedure and Reference Codes

Applicable procedure codes (reference)CPT

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 genomic sequence analysis panel, must include sequencing of at least 9 genes.
81443	Genetic testing for severe inherited conditions (panel).
81479	Unlisted molecular pathology procedure.

Billing Rule

Use listed CPT/HCPCS codes for reference when billing or authorizing

Applicable CPT/HCPCS codes are listed for reference; use them when preparing authorizations or claims but verify plan-specific rules for reimbursement.

0400U describes expanded carrier screening (145 genes) by NGS and other methods.
81412, 81443, and 81479 are listed as relevant panel or unlisted molecular pathology codes.

Not Covered

Reproductive carrier screening panels composed of 16 or more genes are considered unproven and not medically necessary and therefore are listed as not covered. Carrier screening for other unspecified indications is likewise identified as unproven and not covered due to insufficient evidence of efficacy.

ACOG discourages inclusion of adult-onset conditions in routine carrier screening panels. Panels that primarily report adult-onset conditions are not aligned with ACOG consensus criteria and are not covered under this policy for routine reproductive carrier screening.

The policy excerpt does not enumerate additional specific tests that are explicitly not covered. It does note that regulatory actions such as FDA approval alone are not sufficient justification for coverage; coverage decisions depend on demonstrated medical necessity and benefit.

Definitions

Carrier Screening — definition

DefinitionGenetic testing performed on an asymptomatic individual to determine whether they may have a genetic variant associated with a disorder that could be passed to biological children.

PurposeIdentifies carrier status for autosomal recessive and X-linked conditions to inform reproductive risk and counseling.

Guideline sourceACOG Committee Opinion referenced in policy (2017, reaffirmed 2023).

First-Degree Relative — definition

DefinitionFirst-degree relatives include parents, siblings, and children.

Use in policyPresence of an affected biological first-degree relative can qualify an individual for expanded panel coverage up to 15 genes.

Background

Carrier screening is genetic testing performed on asymptomatic individuals to identify whether they carry variants for autosomal recessive or X-linked conditions that could be passed to offspring. The primary clinical purpose of reproductive carrier screening is to identify carrier status in prospective parents so they can receive counseling, pursue partner testing when indicated, and make informed reproductive decisions. Professional guidelines (ACOG, ACMG, NSGC) recommend screening for cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies as core components of reproductive carrier screening.

Revision History

2025-07-01revisionLatest

Updated definition of 'Gene Panel' and updated Supporting Information: Clinical Evidence, FDA, and References; previous policy version CS1S1KY.06 archived.

Policy Summary

PayerUnitedHealthcare

PolicyCarrier Testing Panels for Genetic Diseases (Kentucky Only)

Policy CodePolicy CS1S1KY.07

Change TypeDefinitions and supporting sections updated

Effective DateJul 1, 2025

Next Review Date

Key ActionDocument that pre-test genetic counseling was offered and verify plan-specific coverage and any UnitedHealthcare prior authorization requirements before testing.

SourceLink

On This Page

Evidence from prospective sequencing studies.

Recommendation is conditional with low/moderate certainty evidence.

RCOG caution on universal ECS: RCOG notes insufficient evidence to recommend routine testing of all prospective parents, highlights lack of standardization among ECS panels, and recommends interpretation by clinicians with appropriate genetics expertise.

RCOG Scientific Impact Paper (2024).

Panels >=16 genes: Reproductive carrier screening panels comprised of 16 or more genes are considered unproven and not medically necessary.>=16 genes

Not covered per policy.

Individuals who are pregnant or considering pregnancy

Professional recommendation relevant to routine offers of carrier screening:

ACOG offer recommendation: ACOG recommends offering carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and hemoglobinopathies to all individuals who are pregnant or considering pregnancy.

Hemoglobinopathy testing may be by electrophoresis or molecular testing; ACOG emphasizes offering regardless of self-reported race/ethnicity.

ECS as a consideration: Expanded carrier screening (ECS) may be considered to detect a broader range of at-risk couples and can be used as an alternative to ethnicity-based screening because self-reported ethnicity is unreliable for genetic ancestry.

Supported by cohort and modeling studies showing higher carrier detection and missed carriers with ethnicity-based panels.

Individuals who are pregnant or considering pregnancy (including reproductive partners) may be offered carrier screening and/or ECS

Society positions on offering carrier screening and ECS to reproductive individuals and partners:

ACOG baseline requirements: ACOG requires offering carrier screening for CF and SMA and recommends offering hemoglobinopathy/thalassemia screening to individuals who are pregnant or considering pregnancy; when ECS is considered, panels should meet consensus criteria (well-defined phenotype, early onset, significant impact, carrier frequency thresholds, prenatal diagnosability) and should not include adult-onset conditions.

ACOG Committee Opinions cited (2017, reaffirmed).

ACMG tiered recommendation: ACMG recommends a tiered approach where Tier 3 carrier screening (includes AR and X-linked conditions above specified carrier frequency thresholds) should be offered to all pregnant patients and those planning pregnancy; Tier 4 screening is reserved for consanguinity or significant family/personal history.

ACMG Practice Resource (Gregg et al., 2021).

NSGC conditional offer: NSGC conditionally recommends offering ECS to all individuals considering reproduction, pregnant individuals, and their partners, with shared decision-making and efforts to address access and counseling barriers.

Conditional recommendation with low/moderate certainty evidence.

Document that pre-test counseling was offered and provided, including discussion of benefits, limitations, and possible outcomes.

For positive carrier results, document offer of partner testing and any follow-up referrals or actions.

Maintain counseling and follow-up documentation in the medical record as part of coverage determination and continuity of care.

Documentation Required

Document counseling and offer of screening

Document the offer of carrier screening and the counseling discussion in the patient's record. Records should note which tests were offered, patient decisions, and any referrals or follow-up plans. Proper documentation supports clinical decision-making and may be required for coverage review.

Record that the screening offer occurred and the patient's acceptance or declination.
Include details of counseling content and any referrals to genetics or other specialists.

Prior Authorization

Benefit plan requirements govern

Benefit plan terms and applicable federal or state contractual requirements govern coverage decisions. Before ordering tests, verify plan-specific coverage, prior authorization rules, and any contract or regulatory differences. In case of conflict, the federal, state, or contractual requirements supersede this policy.

Check member's benefit plan for coverage details and prior authorization requirements.
When federal or state mandates apply, follow those requirements over the standard policy guidance.

Note

Provider actions — none specified

None explicitly stated in this portion of the document.

ReferenceNCCN (2025) definition cited in policy.

Second-Degree Relative — definition

DefinitionSecond-degree relatives include half siblings, aunts/uncles, grandparents, grandchildren, and nieces/nephews.

Use in policyA biological second-degree relative affected by a condition evaluated by the panel can qualify an individual for coverage of panels up to 15 genes.

ReferenceNCCN (2025) definition cited in policy.

Gene Panel — definition

DefinitionA testing panel that looks for genetic changes/variants in more than one gene in the same test.

MethodsPanels may use targeted genotyping or next-generation sequencing depending on the laboratory and platform selected.

Policy notePolicy updated the Gene Panel definition (see revision history).

Expanded carrier screening (ECS) — definition

DefinitionMultigene carrier testing panels ranging from tens to hundreds of genes; literature examples include panels from 23 to 274 genes and genomic approaches reporting hundreds of conditions.

ImplicationsExpanded panels detect substantially more carriers and at-risk couples but increase counseling workload and may report findings across a range of severity classes.

ExamplesStudies cited include panels analyzing 110 genes (Haque et al.) and reporting up to 728 condition classes in genomic sequencing (NextGen).

Hemoglobinopathy testing — definition and recommendation

DefinitionTesting by hemoglobin electrophoresis or molecular genetic testing to detect hemoglobinopathy traits.

ACOG recommendationACOG recommends offering hemoglobinopathy testing to all individuals planning pregnancy or at the first prenatal visit if no prior testing has been performed.

RationaleACOG no longer recommends race/ethnicity-based testing because self-reported race/ethnicity may not reflect genetic ancestry; universal offering improves identification of at-risk individuals.

Gene Panel — updated definition in policy

Updated definitionPolicy revised the definition of 'Gene Panel' to reflect current wording; the policy history notes the definition update on 07/01/2025.

ContextThe updated definition aligns with sources cited (CDC, MedlinePlus) describing a gene panel as testing multiple genes in the same test.

ReferenceSee Policy History/Revision Information (07/01/2025) and Definitions section in the policy document.