Description

Genetic testing for disease risk (also referred to as predictive, presymptomatic or predispositional genetic testing) is used to help determine if an asymptomatic individual may be at risk for developing a genetic disorder due to family history or when a pathogenic variant has been identified in an affected relative. Predictive genetic testing may be used for many inherited conditions including alpha-1 antitrypsin deficiency.

APOL1 gene testing has been proposed to confirm the presence of apolipoprotein L1 gene risk variants to help determine a potential donor's risk of developing chronic kidney disease risk following kidney donation. The Apolipoprotein L1 (APOL1) Renal Risk Variant Genotyping Test is an example of this type of assay. (Refer to Coverage Limitations section)

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Genetic Testing for Disease Risk Effective Date: 09/28/2023

Revision Date: 09/28/2023

Review Date: 09/28/2023

Policy Number: HUM-0464-050

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Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version. Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing.

Genetic-based tests for age-related macular degeneration (AMD) analyze ARMS2 and CFH genes and gene variants to supposedly determine risk of disease as well as aid in identifying medications and vitamin supplements that may benefit an individual. Examples include Macula Risk PGx and Vita Risk. (Refer to Coverage Limitations section)

Multigene (or expanded) panels analyze a broad set of genes simultaneously (as opposed to single gene testing that searches for variants in one specific gene) and have been proposed to evaluate the DNA of an individual with a personal and/or family history of more than one hereditary condition or syndrome. Panels often include medically actionable genes, but may also include those with unclear medical management. Targeted (or focused) multigene panels analyze a limited number of genes targeted to a specific condition. (Refer to Limitations section)

For information about genetic testing not addressed in this policy, please see the following:

• Comparative genomic hybridization/chromosomal microarray analysis to detect
• Comparative Genomic Hybridization/Chromosomal Microarray Analysis
• deletions/duplications and/or for full gene sequence analysis for single gene disorders
• Genetic testing for a symptomatic individual for noncancer indications
• Genetic Testing for Diagnosis of Noncancer Indications
• Genetic testing for the evaluation of an individual with cancer
• Genetic Testing for Diagnosis and Monitoring of Cancer
• Molecular testing for transplant rejection
• Molecular Diagnostic Assays and Breath Testing for Transplant Rejection

For information regarding genetic testing for the following, please refer to Genetic Testing Medical Coverage Policy:

• DNA banking or preservation
• General population screening
• Individual 17 years of age or younger for adult-onset conditions
• Interpretation and reporting for molecular pathology procedure

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Genetic Testing for Disease Risk Effective Date: 09/28/2023

Revision Date: 09/28/2023

Review Date: 09/28/2023

Policy Number: HUM-0464-050

Humana's documents are updated regularly online. When printed, the version of this document becomes uncontrolled. Do not rely on printed copies for the most up-to-date version.

Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing.

Polygenic risk score (PRS) and single nucleotide polymorphisms (SNPs)

• Repeat germline or somatic genetic testing
• Retrieved archival tissue

Humana recognizes that the field of genetic testing is rapidly changing and that other tests may become available.

Coverage Determination

Any state mandates for genetic testing for disease risk take precedence over this medical coverage policy. Genetic testing may be excluded by certificate. Please consult the member’s individual certificate regarding Plan coverage.

Apply General Criteria for Genetic and Pharmacogenomics Tests when disease- or gene-specific criteria are not available on a medical coverage policy. For information regarding general criteria for genetic tests, please refer to Genetic Testing Medical Coverage Policy.

Humana members may be eligible under the Plan for SERPINA1 gene testing (81332) for alpha-1 antitrypsin deficiency when the following criteria are met:

• Pre- and post-test counseling; AND
• Individual to be tested has an affected first-degree relative with a pathogenic or likely pathogenic variant in the SERPINA1 gene (genetic testing should be limited to the known familial variant [KFV])

Coverage Limitations

Humana members may NOT be eligible under the Plan for genetic testing for disease risk for any of the following tests or indications:

• Age-related macular degeneration including, but may not be limited to:
  • ARMS2 and CFH genes
  • Macula Risk PGx (0205U)
  • Vita Risk
• APOL1 gene testing (eg, Apolipoprotein L1 [APOL1] Renal Risk Variant Genotyping (0355U)
• Multigene panels unless ALL genes in the panel meet disease- or gene-specific criteria (for single genes included in a panel, apply appropriate criteria)

These are considered experimental/investigational as they are not identified as widely used and generally accepted for any other proposed uses as reported in nationally recognized peer-reviewed medical literature published in the English language.

Humana members may NOT be eligible under the Plan for genetic testing for disease risk for KFV analysis using a multigene panel that includes the KFV. This is considered not medically necessary as defined in the member’s individual certificate. Please refer to the member’s individual certificate for the specific definition.

Background

Additional information about alpha-1 antitrypsin deficiency, AMD and chronic kidney disease may be found from the following websites:

• American Academy of Ophthalmology
• Centers for Disease Control and Prevention
• National Heart, Lung and Blood Institute
• National Library of Medicine

Medical Alternatives

Alternatives to APOL1 gene testing for the evaluation postdonation kidney disease risk include, but may not be limited to:

• Assessment of baseline health characteristics
• Online risk prediction tool (ESRD Risk Tool for Kidney Donor Candidates)

Alternatives to genetic-based tests for AMD disease risk include, but may not be limited to:

• Ophthalmologic evaluation including, but may not be limited to, biomicroscopy, fluorescein angiography, fundus autofluorescence and tomography

Genetic Testing for Disease Risk Effective Date: 09/28/2023

Revision Date: 09/28/2023

Review Date: 09/28/2023

Policy Number: HUM-0464-050

Page: 4 of 10

Genetic Testing for Disease Risk Effective Date: 09/28/2023

Revision Date: 09/28/2023

Review Date: 09/28/2023

Policy Number: HUM-0464-050

Page: 5 of 10

Refer to Medical and Pharmacy Coverage Policies to verify that this is the current version before utilizing.

Physician consultation is advised to make an informed decision based on an individual's health needs.

Humana may offer a disease management program for this condition. The member may call the number on his/her identification card to ask about our programs to help manage his/her care.

Any CPT, HCPCS or ICD codes listed on this medical coverage policy are for informational purposes only. Do not rely on the accuracy and inclusion of specific codes. Inclusion of a code does not guarantee coverage and or reimbursement for a service or procedure.