Capital Bluecross CHEK2 ATM BARD1 Coverage Update

Coverage Criteria & Rationale

Investigational / Not covered

Covered when ALL of the following are met

Investigational stance: Testing for CHEK2, ATM, and BARD1 variants in the assessment of breast cancer risk is considered investigational.

There is insufficient evidence to support a general conclusion concerning the health outcomes or benefits associated with this testing.

Coverage rationale and criteria — Coverage stance and clinical rationale summarized from guidelines and evidence

Coverage stance and clinical rationale summarized from guidelines and evidence:

Guideline-based testing availability: Genetic testing should be made available to individuals with a personal history of breast cancer and to individuals meeting NCCN hereditary cancer testing criteria; testing may include BRCA1/2, PALB2, and other genes (including CHEK2, ATM, BARD1) as appropriate for the clinical scenario and family history.

ASBrS consensus (Feb 2019) and NCCN v2.2024 referenced.

When to consider panel vs targeted testing: If a known familial pathogenic/likely pathogenic variant exists, targeted testing for that specific familial variant may be recommended; if no known familial variant and criteria are met, comprehensive multigene panel testing may be considered.

NCCN guidance; testing an affected family member first has highest likelihood of a positive result.

Clinical utility considerations: CHEK2 and ATM are moderate-penetrance genes (approximately 2–4× risk) and BARD1 is low-to-moderate penetrance (approximately 2–3×); direct evidence demonstrating clinical utility to improve health outcomes (including justification for risk-reducing mastectomy) is insufficient. Management should incorporate family history and existing screening guidelines.

Evidence summaries indicate limited direct clinical utility data.

Screening implications: For individuals with CHEK2, ATM, or BARD1 mutations, guidelines recommend annual mammography beginning at age 40 and consideration of annual breast MRI, particularly when lifetime breast cancer risk exceeds 20% based on risk models largely dependent on family history.>20% lifetime breast cancer risk (consider annual MRI)

NCCN breast cancer screening recommendations referenced.

Coverage criteria (legacy) — See successor policy MP 2.211 for current coverage criteria.

See successor policy MP 2.211 for current coverage criteria.

Retirement note: Genes addressed in MP 2.279 have been consolidated into successor policy MP 2.211; no active coverage criteria for these genes remain in this document window.

Refer to MP 2.211 for current coverage and authorization requirements.

Testing for CHEK2, ATM, and BARD1 variants in the assessment of breast cancer risk is designated investigational by this policy and therefore is not supported as medically necessary.

The evidence base is limited to studies of variant prevalence and risk estimates; although CHEK2 and ATM are described as moderate-penetrance (approximately 2–4× risk) and BARD1 as low-to-moderate (approximately 2–3× risk), direct evidence demonstrating that testing these genes improves net health outcomes is lacking and therefore the evidence is considered insufficient.

On 10/27/2022 PALB2 was removed from this policy and is now addressed in successor policy MP 2.211; subsequent policy history documents consolidation of genes into MP 2.211 (ad hoc retirement review 2/6/2024).

There is insufficient direct clinical utility evidence to support a general conclusion that testing for CHEK2, ATM, and BARD1 leads to improved health outcomes such as survival or definitive changes in management (e.g., risk-reducing mastectomy) in the absence of other high-risk features or strong family history.

Because high-quality direct evidence of clinical utility is lacking for these moderate-penetrance genes, testing is not supported in scenarios where results would not change clinical management; management decisions should instead be based on family history and existing guideline recommendations (for example, NCCN guidance on screening and cascade testing).

BARD1 testing was designated investigational by the Blue Cross Blue Shield Association and added as investigational in this policy on 10/27/2022, as reflected in the policy history.

Covered Indications

Individuals meeting hereditary cancer testing criteria (personal history of breast cancer or meeting NCCN criteria) where testing for CHEK2, ATM, or BARD1 would inform screening recommendations or cascade testing.

Hereditary cancer testing criteria met: Individual meets hereditary cancer testing criteria (for example, personal history of breast cancer or other features meeting NCCN criteria) and testing for CHEK2, ATM, or BARD1 would directly inform screening recommendations or cascade testing of at-risk relatives.

Testing of an affected family member first is recommended; consider multigene panel if no known familial variant.

Individuals at high breast cancer risk undergoing germline testing for CHEK2, ATM, and BARD1 — Specific coverage criteria not present in this window; see MP 2.211.

See successor policy for criteria: Individuals at high breast cancer risk undergoing germline testing for CHEK2, ATM, and BARD1: specific coverage criteria are not present in this policy window because the genes have been consolidated into MP 2.211; refer to MP 2.211 for current, actionable coverage criteria.

Policy retired/ad hoc consolidation noted; see MP 2.211.

Coding and Billing

Investigational / relevant diagnosis codes listedmixedNot Covered

0102U	Investigational (listed in document)
0129U	Procedure code listed as investigational
0131U	Procedure code listed as investigational
0136U	Procedure code listed as investigational
81408	Molecular pathology procedure (listed as investigational in this policy)
81479	Unlisted molecular pathology procedure (listed as investigational in this policy)
C50.011	Malignant neoplasm of nipple and areola, right female breast
C50.012	Malignant neoplasm of nipple and areola, left female breast
C50.019	Malignant neoplasm of nipple and areola, unspecified female breast
C50.021	Malignant neoplasm of nipple and areola, right male breast

1–10 of 22

1/3

Codes mentioned in policy historymixed

0102U	code added as investigational per history
0129U	code added as investigational per history
0131U	code added as investigational per history
0136U	code added as investigational per history
0137U	code added 10/1/2019 per history
81307	code added 1/1/2020 per history
81308	code added 1/1/2020 per history
Q85.81	ICD-10 diagnosis code revised 9/12/2023
Q85.82	ICD-10 diagnosis code added 7/29/2022

MRI screening consideration

MRI screening consideration>20% lifetime breast cancer risk — consider annual breast MRI in addition to annual mammogram

Age to begin enhanced screeningAnnual mammogram starting at age 40 for individuals with CHEK2, ATM, or BARD1 mutations (per guideline context)

Screening modality sequenceAnnual mammogram with consideration of annual MRI when lifetime risk >20% (models largely dependent on family history)

Coding key/value placeholder

Investigational procedure codes0102U, 0129U, 0131U, 0136U, 81408, 81479 listed as investigational (not covered)

Code additions in policy history

Provider Actions & Operational Notes

Note

Policy Retirement & Successor Guidance

This policy is retired. The genes and guidance previously in MP 2.279 have been consolidated into successor policy MP 2.211; practitioners must use MP 2.211 for current authorization, coverage, and documentation guidance.

Reference successor policy MP 2.211 for current requirements and prior authorization pathways.

Note

Benefit Plan Governs Coverage

Coverage and reimbursement are governed by the member's specific health benefit plan. The presence of this medical policy does not guarantee a service is a covered benefit; verify member benefits and any plan exclusions or limits before ordering.

A member's health benefit plan determines covered services, exclusions, limits, and preauthorization requirements.
Contact Capital Blue Cross or review the member's benefit plan for benefit-specific determinations.

Eligibility Requirements & Referral Criteria

Refer to the NCCN criteria for genetic risk evaluation for individuals with and without a personal history of breast cancer; family history modifiers should be applied when interpreting risk and determining testing indications.

Recommended testing strategy for BRCA1, BRCA2, and PALB2 is described in successor policy MP 2.211. Individuals who meet hereditary testing criteria may benefit from testing an affected family member first; if a familial pathogenic/likely pathogenic variant is known, targeted testing for that variant is preferred before broader multigene panel testing.

Not Covered / Investigational Services

Germline testing of CHEK2, ATM, and BARD1 for assessment of breast cancer risk is considered investigational and therefore not supported (not covered) under this policy.

Specific procedure and CPT/HCPCS codes (for example, 0102U, 0129U, 0131U, 0136U, 81408, 81479) are listed in the coding section as investigational and therefore are not covered; code lists are subject to change and benefit determinations depend on the member's plan.

As noted in the policy history, PALB2 was moved out of this policy to MP 2.211, and BARD1 testing was labeled investigational per BCBSA on 10/27/2022.

Background and Definitions

Most breast cancers are sporadic (approximately 70–75%); familial cancers account for about 15–25% and hereditary cancers approximately 5–10%. BRCA1 and BRCA2 account for a substantial proportion of inherited cases; CHEK2 and ATM are characterized as moderate-penetrance genes and BARD1 as low-to-moderate penetrance.

Penetrance

DefinitionPenetrance is the risk conferred by a pathogenic variant or the proportion of individuals with the variant expected to develop cancer

High penetranceGreater than 50% lifetime risk (corresponding RR ≳5)

Moderate penetrance20%–50% lifetime risk (corresponding RR ~1.5–5)

Low penetranceLess than 20% lifetime risk (corresponding RR <1.5)

Variant interpretation challenges

Definitions

Penetrance

DefinitionPenetrance is the risk conferred by a pathogenic variant or the proportion of individuals with the variant expected to develop cancer

ClassificationHigh (>50%), Moderate (20–50%), Low (<20%)

ModifiersPenetrance can be modified by environmental factors and family history; variant-specific risks may vary within a gene

Variant interpretation challenges

In silico analysesPredicting pathogenicity for uncommon variants typically requires computational assessments of protein impact, conservation, and splicing

Inter-lab differencesDifferent labs may classify the same rare variant differently (VUS vs pathogenic)

OpenPayer

Germline Genetic Testing for Gene Variants Associated with Breast Cancer Risk (CHEK2, ATM, BARD1)