CurrentCapital BluecrossPolicy MP 2.260

Genetic testing for macular degeneration

This policy governs the medical coverage stance for genetic testing aimed at assessing risk or informing management of age-related macular degeneration for Capital BlueCross members and their providers.

Policy Summary

PayerCapital Bluecross

PolicyGenetic testing for macular degeneration

Policy CodePolicy MP 2.260

Change TypeNo material changes

Effective DateSep 1, 2024

Next Review Date

Key ActionVerify member benefits and obtain preauthorization when required by the member's health benefit plan.

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

investigationalcoverage stance

~70%genetic risk accounted

15MaculaRisk biomarkers

85-90%dry AMD proportion

05/29/2024last review

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Coverage Criteria

Investigational / Not covered as standard of care

Covered when ALL of the following are met

Overall policy stance: Genetic testing for macular degeneration is considered investigational due to insufficient evidence that testing improves health outcomes or changes management compared with clinical evaluation; clinical utility has not been demonstrated.

Applies to asymptomatic individuals at risk and to patients who have AMD; no studies show improved outcomes or that specific genotypes are associated with specific therapies.

The evidence does not demonstrate clinical utility for genetic testing for age-related macular degeneration (AMD) in either asymptomatic individuals at risk or in patients who already have AMD. Genetic testing provides at best a small incremental improvement in risk stratification over nongenetic factors, but no studies have shown that testing leads to improved health outcomes or that testing changes management compared with standard clinical evaluation. For patients with established AMD, genetic testing has not been shown to be superior to clinical assessment for predicting progression, and there is no consistent association of specific genotypes with specific therapies that would guide treatment decisions.

Genetic testing for macular degeneration is considered investigational when billed with the specified procedure codes. This investigational designation applies to Tier 2 genetic CPT codes and multianalyte assays with algorithmic analysis (MAAA) when reported with codes including 0205U and the listed CPT codes 81401, 81405, 81408, 81479, and 81599.

Genetic testing for AMD is not medically necessary for the purpose of predicting disease progression or guiding therapy because the current evidence is insufficient to show that test results improve health outcomes or alter management. As a result, testing cannot be recommended to direct preventive or therapeutic interventions in routine clinical care.

Coding and Billing

Investigational / Not covered for Genetic Testing for Macular DegenerationCPTNot Covered

0205U	Proprietary/other genetic test code referenced as investigational when used for Genetic Testing for Macular Degeneration
81401	Procedure code listed in coding information
81405	Procedure code listed in coding information
81408	Procedure code listed in coding information
81479	Procedure code listed in coding information
81599	Procedure code listed in coding information

Investigational / Not covered for Genetic Testing for Macular Degeneration (duplicate listing from source)CPTNot Covered

0205U	Proprietary/other genetic test code referenced as investigational when used for Genetic Testing for Macular Degeneration
81401	Procedure code listed in coding information
81405	Procedure code listed in coding information
81408	Procedure code listed in coding information
81479	Procedure code listed in coding information
81599	Procedure code listed in coding information

Provider Actions and Requirements

Prior Authorization

Benefit plan / preauthorization requirement

Benefit plan determines coverage. The existence of this medical policy does not guarantee that genetic testing for macular degeneration is a covered benefit under a member's health plan. Providers and members must consult the member's specific health benefit plan or contact Capital Blue Cross to confirm coverage, benefit limits, exclusions, and preauthorization requirements.

Benefit determinations are based on the member's health benefit plan language.
Preauthorization requirements vary by plan — confirm with the member's plan or Capital Blue Cross prior to testing.

Denial Risk

Investigational — potential denial

Genetic testing for macular degeneration is considered investigational by this policy. Tests deemed investigational are at high risk for denial if submitted for coverage.

Investigational — denial risk for coverage claims.

Documentation Required

Counseling recommended

Recommend formal genetic counseling for patients who are considering genetic testing for macular degeneration. Counseling should be performed by an individual with expertise in genetic medicine and genetic testing methods to ensure appropriate test selection and interpretation.

Encourage referral to qualified genetic counselor or clinician with genetic expertise before ordering testing.
Genetic counseling may change testing utilization and reduce inappropriate testing.

Prior Authorization

Member benefit verification required

Providers should verify member benefits and obtain any required preauthorization from Capital Blue Cross before ordering genetic testing. Failure to verify benefits or obtain authorization may result in claim denial or member financial responsibility.

Confirm coverage, exclusions, and any preauthorization requirements with the member's plan.
Contact Capital Blue Cross for benefit or authorization questions prior to testing.

Documentation Required

Documentation and clinical rationale

When ordering genetic testing, document the clinical rationale, relevant family history, and that the patient received genetic counseling (or counseling was offered and declined). Proper documentation supports medical necessity determinations.

Include clinical indication and family history in the medical record.
Document that formal genetic counseling occurred or was offered.

Not Covered / Investigational

Genetic testing for macular degeneration is considered investigational and is not supported as standard clinical care due to insufficient evidence of clinical utility. The policy concludes there is inadequate evidence that testing improves health outcomes for either asymptomatic individuals at risk or patients with AMD, and claims for such testing may be denied as not medically necessary.

This investigational determination explicitly includes Tier 2 genetic CPT codes and multianalyte assays with algorithmic analysis (MAAA) when reported with the listed procedure codes. Tests billed with 0205U or CPT codes 81401, 81405, 81408, 81479, or 81599 are considered investigational for the purpose of genetic testing for macular degeneration.

Background

Age-related macular degeneration (AMD) is the leading cause of severe vision loss in people older than 60. AMD occurs in two general forms: the non-neovascular “dry” form, which accounts for approximately 85–90% of cases, and the neovascular “wet” form. Major risk factors include older age, smoking, cardiovascular disease, nutritional factors, and genetic variants; some reports estimate genetic variants account for roughly ~70% of AMD risk. Despite these associations, current genetic testing has not been shown to change clinical outcomes or management in routine practice.

Definitions

Variant classification (ACMG-AMP terminology) — standard variant categories

Standard ACMG-AMP categoriesPathogenic; Likely pathogenic; Variant of uncertain significance (VUS); Likely benign; Benign.

Nomenclature guidance sourceACMG-AMP standards and College of American Pathologists guidance as referenced in policy; Human Genome Variation Society nomenclature used for reporting.

Purpose of categoriesTo describe the clinical significance of DNA sequence variants identified by clinical genetic testing (applies to genotyping, single genes, panels, exomes, genomes).

Genetic testing for macular degeneration — what tests evaluate

DefinitionAssays that evaluate genetic variants associated with risk, progression, or treatment response in age-related macular degeneration.

Test types mentionedIncludes multi-marker risk algorithms (e.g., MaculaRisk) and direct-to-consumer or single/multi-gene reports (e.g., 23andMe); multianalyte assay with algorithmic analysis (MAAA) referenced in coding.

Clinical intentTests aim to assess AMD risk or predict progression rather than to guide established therapy; policy notes insufficient evidence of clinical utility.