Humana Genetic Testing for Cancer Susceptibility Form


Genetic Testing for Cancer Susceptibility

Notes: If any indication is answered 'Yes', then the genetic testing may not be covered. Please refer to the member's individual certificate for specific definitions and consult a physician for individual health needs. Coverage for genetic tests not explicitly listed may require additional review of medical literature and physician consultation.

Indications

(871769) Is the testing in accordance with any applicable state mandates for genetic testing for cancer susceptibility? 
(871770) Is the genetic testing for cancer susceptibility excluded by the patient's individual certificate? 
(871771) Does the individual to be tested have an affected first-, second-, or third-degree relative with a negative genetic testing result for the associated condition? 
(871772) Is the individual to be tested unaffected and is there an affected first-, second-, or third-degree relative who is available for genetic testing? 
(871773) Is the testing requested a KFV analysis using a multigene panel that includes the KFV? 

YesNoN/A
YesNoN/A
YesNoN/A

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Effective Date

02/02/2023

Last Reviewed

NA

Original Document

  Reference



Approximately 5 to 10 percent of all cancers are hereditary and genetic testing can help determine if a cancer is inherited.

Testing is available for many cancers including, but not limited to:

  • Hereditary diffuse gastric cancer (HDGC) is a rare, inherited type of gastric (stomach) cancer that grows in the lining of the stomach and is caused by mutations in the CDH1 gene.
  • Melanoma-pancreatic cancer syndrome is an inherited cancer syndrome in which an individual with variants in the CDKN2A gene have an increased risk of developing malignant melanoma and/or pancreatic cancer.

Genetic Testing for Cancer Susceptibility

Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
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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.

  • Multiple endocrine neoplasia (MEN) is a group of genetically different, rare, heritable disorders involving adenomatous hyperplasia and the endocrine system in which benign (noncancerous) or malignant (cancerous) tumors form.
    • MEN1 type 1 (MEN1) is caused by mutations in the MEN1 gene and is characterized by tumors of the gastroenteropancreatic (GEP) tract, parathyroid glands and pituitary.
    • MEN2 type 2 (MEN2) is caused by mutations in the RET gene and is divided into two distinct subtypes:
      1. Type 2A (MEN2A) is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PCC) and/or physical findings such as Hirschsprung’s disease and parathyroid carcinoma/hyperplasia.
      2. Type 2B (MEN2B) is characterized MTC, PCC and/or the presence of features such as mucosal neuromas, medullated corneal nerve fibers, ectopic lenses and marfanoid body habitus which are a number of symptoms that resemble those of Marfan syndrome such as long limbs, crowded oral maxilla and sometimes high arch in the palate, arachnodactyly and hyperlaxity.
    • MEN4, also referred to as MENX, is a rare form of MEN that has overlapping features with the other MEN syndromes; however, it is associated with mutations in the CDKN1B gene.
  • Paraganglioma (PGL) and PCC are rare tumors that form from the same tissue type. Typically, the tumors are benign; however, some tumors can become malignant and metastasize (spread) to other body parts. PGLs form in nerve tissue in the adrenal glands. PCCs are PGLs that form in the adrenal glands. While most PGLs form without a known cause, some are inherited. There are many types of hereditary PGL and PCC, each with its own genetic source, developing in different parts of the body. Variants in the SDHB and SDHD genes are associated with PGL and PCC. Additional genes testing of the RET and VHL genes may be appropriate when certain features of PGL or PCC are present.

Genetic Testing for Cancer Susceptibility

Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
Page: 3 of 33

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  • Retinoblastoma, a cancer that originates in the retina (back of the eye), predominately affecting infants and young children. Although rare, it can occur in adults as well.
    characterized by the development of tumors (malignant and benign) and fluid-filled sacs (cysts) that can form in many different parts of the body. An individual with VHL has an increased risk of developing clear-cell renal cell carcinoma (ccRCC), a type of kidney cancer.

VHL syndrome is caused by mutations in the VHL gene.

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. (Refer to Coverage Limitations section)

Targeted (or focused) multigene panels analyze a limited number of genes targeted to a specific condition.

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
  • Polygenic risk score (PRS) and single nucleotide polymorphisms (SNPs)
  • Repeat germline or somatic genetic testing
  • Retrieved archival tissue
For information regarding array comparative genomic hybridization (aCGH) to detect deletions/duplications and/or for full gene sequence analysis for single gene disorders, please refer to Comparative Genomic Hybridization/Chromosomal Microarray Analysis Medical Coverage Policy.

Genetic Testing for Cancer Susceptibility Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
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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.

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 cancer susceptibility 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.

HEREDITARY DIFFUSE GASTRIC CANCER (CDH1 GENE)

Refer to Coverage Limitations section for multigene panel analysis for HDGC.
HDGC – Affected Individual

Humana members may be eligible under the Plan for CDH1 single gene sequencing and deletion/duplication analysis (performed concurrently or sequentially*) for HDGC when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Bilateral lobular breast cancer diagnosed before 70 years of age; OR
  • Diffuse gastric cancer (DGC) diagnosed prior to 50 years of age; OR
  • DGC and cleft lip/cleft palate; OR
  • DGC and is of Maori ethnicity; OR
  • DGC and lobular breast cancer, either cancer diagnosed prior to 70 years of age

Genetic Testing for Cancer Susceptibility Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
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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.

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HDGC – Unaffected Individual

Humana members may be eligible under the Plan for CDH1 single gene sequencing and deletion/duplication analysis (performed concurrently or sequentially*) for HDGC when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested is unaffected; AND
  • An affected first-, second- or third-degree relative is unavailable for genetic testing (eg, deceased, declines genetic testing or unable to contact); AND
    • First-, second- or third-degree relative diagnosed with DGC and lobular breast cancer, either cancer diagnosed before 70 years of age; OR
    • Two first-, second- or third-degree relatives, on the same side of the family, diagnosed with gastric cancer and one has a confirmed diagnosis of DGC; OR
    • Two first-, second- or third-degree relatives, on the same side of the family, diagnosed with lobular breast cancer before 50 years of age

HDGC - Known Familial Pathogenic or Likely Pathogenic Variant

Humana members may be eligible under the Plan for HDGC known familial variant (KFV) genetic testing when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested has a first-, second-or third-degree relative with a pathogenic or likely pathogenic variant. Genetic testing should be limited to the KFV.

MELANOMA-PANCREATIC CANCER SYNDROME (CDKN2A GENE)

Refer to Coverage Limitations section for multigene panel analysis for melanoma.

Genetic Testing for Cancer Susceptibility Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
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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.

Melanoma-Pancreatic Cancer Syndrome – Affected Individual

Humana members may be eligible under the Plan for CDKN2A single gene sequencing and deletion/duplication analysis (performed concurrently or sequentially*) for melanoma-pancreatic cancer syndrome when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested has a personal history of invasive cutaneous melanoma;AND
  • Has a first-degree relative diagnosed with pancreatic cancer

Melanoma-Pancreatic Cancer Syndrome - Known Familial Pathogenic or Likely Pathogenic Variant

Humana members may be eligible under the Plan for melanoma-pancreatic cancer syndrome KFV genetic testing when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested has a first-, second- or third-degree relative with a pathogenic or likely pathogenic variant. Genetic testing should be limited to the KFV.

MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 (MEN1 GENE)

MEN1 – Affected Individual

Humana members may be eligible under the Plan for MEN1 gene sequencing and deletion/duplication analysis (performed concurrently or sequentially*) for MEN1 when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested has a personal history of either of the following:
    • 1 tumor type characteristic of MEN1 and has a first-, second- or third-degree relative diagnosed with at least 1 tumor type characteristic of MEN1; OR

Genetic Testing for Cancer Susceptibility Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
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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.

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MEN1 – Unaffected Individual

Humana members may be eligible under the Plan for MEN1 gene sequencing and deletion/duplication analysis (performed concurrently or sequentially*) for MEN1 when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested is unaffected; AND
  • An affected first-, second- or third-degree relative is unavailable for genetic testing (eg, deceased, declines genetic testing or unable to contact); AND
  • Has a first-degree relative with a confirmed diagnosis of at least 2 tumor types characteristic of MEN1

MEN1 - Known Familial Pathogenic or Likely Pathogenic Variant

Humana members may be eligible under the Plan for MEN1 KFV genetic testing when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested has a first-, second- or third-degree relative with a pathogenic or likely pathogenic variant. Genetic testing should be limited to the KFV.

MULTIPLE ENDOCRINE NEOPLASIA TYPE 2 (RET GENE)

MEN2 – Affected Individual

Humana members may be eligible under the Plan for RET gene sequencing and deletion/duplication analysis (performed concurrently or sequentially*) for MEN2 (S3840) when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested has a personal history of at least 1 of the following characteristics of MEN2:
    • MTC
    • Parathyroid adenoma or hyperplasia
    • PCC

MEN2 – Unaffected Individual

Humana members may be eligible under the Plan for RET gene sequencing and deletion and duplication analysis (performed concurrently or sequentially*) for MEN2 (S3840) when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested is unaffected; AND
  • An affected first-, second- or third-degree relative is unavailable for genetic testing (eg, deceased, declines genetic testing or unable to contact); AND
  • Has a first-degree relative with a confirmed diagnosis of any of the following:
    • MTC
    • Parathyroid adenoma or hyperplasia
    • PCC

MEN2 – Pathogenic or Likely Pathogenic Familial Variant

Humana members may be eligible under the Plan for MEN2 KFV genetic testing (S3840) when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested has a first-, second- or third-degree relative with a pathogenic or likely pathogenic variant. Genetic testing should be limited to the KFV.

Genetic Testing for Cancer Susceptibility Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
Page: 9 of 33

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.

MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 (CDKN1B GENE)

MEN4/MENX – Affected Individual

Humana members may be eligible under the Plan for CDKN1B gene sequencing and deletion/duplication analysis (performed concurrently or sequentially*) for MEN4/MENX when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Genetic testing result for MEN1 (MEN1 gene) is negative; OR
  • Personal history of 1 tumor type characteristic of MEN4
MEN4/MENX – Unaffected Individual

Humana members may be eligible under the Plan for CDKN1B gene sequencing and deletion/duplication analysis (performed concurrently or sequentially*) for MEN4/MENX when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested is unaffected; AND
  • An affected first-, second- or third-degree relative is unavailable for genetic testing (e.g., deceased, declines genetic testing or unable to contact); AND
  • Has a first-degree relative with a confirmed diagnosis of MEN1 or MEN4
MEN4/MENX – Pathogenic or Likely Pathogenic Familial Variant

Humana members may be eligible under the Plan for MEN4/MENX KFV genetic testing when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested has a first-, second- or third-degree relative with pathogenic or likely pathogenic variant. Genetic testing should be limited to the KFV.

Genetic Testing for Cancer Susceptibility Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
Page: 10 of 33

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.

PARAGANGLIOMA and/or PHEOCHROMOCYTOMA (CORE GENES – MAX, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL GENES)

Paraganglioma and/or Pheochromocytoma – Affected Individual

Refer to Coverage Limitations section for genetic testing for unaffected individuals.

Humana members may be eligible under the Plan for PGL and/or PCC single gene or multigene panel sequencing (81437) and deletion/duplication analysis (81438) (performed concurrently or sequentially*) and includes the core genes (MAX, RET, SDHA, SDHAF2, SDHB, SDHC, TMEM127 and VHL) when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Personal history of PGL and/or PCC.
PGL and/or PCC – Pathogenic or Likely Pathogenic Familial Variant

Humana members may be eligible under the Plan for PGL and/or PCC KFV genetic testing when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested is affected; AND
  • Has a first-, second-or third-degree relative with a pathogenic or likely pathogenic variant. Genetic testing should be limited to the KFV.

RETINOBLASTOMA (RB1 GENE)

Retinoblastoma – Affected Individual

Refer to Coverage Limitations section for multigene panel analysis for retinoblastoma.

Humana members may be eligible under the Plan for RB1 mutation testing single gene sequencing and deletion/duplication analysis (S3841) (performed

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Review Date: 02/02/2023
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concurrently or sequentially*) for retinoblastoma when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested has been diagnosed with retinoblastoma by ophthalmoscopic examination and confirmed by imaging studies (eg, magnetic resonance imaging [MRI], ocular ultrasonography or optical coherence tomography [OCT])

Retinoblastoma – Unaffected Individual

Humana members may be eligible under the Plan for RB1 gene sequencing and deletion/duplication analysis (S3841) (performed concurrently or sequentially*) for retinoblastoma when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested is unaffected; AND
  • An affected first-, second- or third-degree relative is unavailable for genetic testing (eg, deceased, declines genetic testing or unable to contact); AND
  • Has a first-degree relative with a confirmed diagnosis of retinoblastoma

Retinoblastoma – Pathogenic or Likely Pathogenic Familial Variant

Humana members may be eligible under the Plan for RB1 KFV genetic testing (S3841) when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested has a first-degree relative with a known familial pathogenic or likely pathogenic variant in the RB1 gene (genetic testing should be limited to the KFV)

VON HIPPEL-LINDAU SYNDROME (VHL GENE)

Von Hippel-Lindau Syndrome – Affected Individual

Genetic Testing for Cancer Susceptibility Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
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Refer to Coverage Limitations section for genetic testing for unaffected individuals.

Humana members may be eligible under the Plan for VHL gene sequencing and deletion/duplication analysis (S3842) (performed concurrently or sequentially*) for VHL when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested exhibits any of the following characteristics of VHL and a clinical diagnosis cannot be established:
  • Clear cell RCC (ccRCC) diagnosed before 40 years of age
  • Endolymphatic sac tumor
  • Hemangioblastoma of the brain, retina or spine
  • Multiple (more than 1) bilateral ccRCC tumors diagnosed at any age
  • Multiple (more than 1) pancreatic cysts
  • Pancreatic neuroendocrine tumor
  • Pancreatic serous cystadenoma (more than 1)
  • Papillary cystadenoma of the epididymis or broad ligament
  • PCC
  • PGL of abdomen, neck or thorax
  • Retinal angioma
VHL – Pathogenic or Likely Pathogenic Familial Variant

Humana members may be eligible under the Plan VHL KFV genetic testing (S3842) when the following criteria are met:

  • Pre- and post-test genetic counseling; AND
  • Individual to be tested is affected; AND
  • Has a first-, second-or third-degree relative with a pathogenic or likely pathogenic variant. Genetic testing should be limited to the KFV.

*Refer to Coverage Limitations section when sequencing and deletion/duplication analysis is obtained as part of the sequencing procedure but submitted as an independent analysis.

Genetic Testing for Cancer Susceptibility Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
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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.

Coverage Limitations

Humana members may NOT be eligible under the Plan for genetic testing for cancer susceptibility for the following:

  • Deletion/duplication information is obtained as part of the sequencing procedure but submitted as an independent analysis
  • Individual to be tested has an affected first-, second- or third-degree relative with a negative genetic testing result for the associated condition
  • Individual to be tested is unaffected and an affected first-, second- or third- degree relative who is available for genetic testing
  • KFV analysis using a multigene panel that includes the KFV
  • Sequencing, deletion/duplication analysis and large genomic rearrangement analysis of a single gene, multigene panel or sequentially for the detection of a KFV without the KFV results of a relative

These are considered not medically necessary as defined in the member’s individual certificate. Please refer to the member’s individual certificate for the specific definition.

Humana members may NOT be eligible under the Plan for genetic testing for hereditary cancer susceptibility for genes, indications or tests other than those listed above including, but may not be limited to:

  • HDGC multigene panel analysis including, but may not be limited to:
    • Invitae Gastric Cancer Panel
    • PreSENTIA Hereditary Gastric Cancer Panel
  • Melanoma multigene panel analysis including, but may not be limited to:
    • Ambry MelanomaNext
    • Fulgent Genetics Melanoma Comprehensive Panel
    • Invitae Melanoma Panel
    • MELARIS, Comprehensive or Single Site
    • OncoGeneDx Melanoma Panel
    • PreSENTIA Familial Melanoma
    • PreSENTIA Hereditary Familial Melanoma Cancer Panel
  • Multigene panel analysis for multiple hereditary cancer syndromes including, but may not be limited to:
    • Ambry Genetics hereditary cancer Next panels (except ColoNext) including, but may not be limited to:
      • CancerNext
      • CancerNext-Expanded
      • CustomNext-Cancer
    • BROCA Cancer Risk Panel
    • Color hereditary cancer panels including, but may not be limited to, Color Extended Hereditary Cancer
    • Invitae hereditary cancer panels including, but may not be limited to:
      • Invitae Cancer Screen
      • Invitae Common Hereditary Cancers Panel
      • Invitae Multi-Cancer Panel
    • Myriad myRisk Hereditary Cancer Panel
    • myVantage Hereditary Comprehensive Cancer Panel
    • OncoGeneDx hereditary cancer panels including, but may not be limited to, Custom Cancer Panel
    • Oseq Hereditary Cancer Panel
    • PreSENTIA hereditary cancer panels including, but may not be limited to, PreSENTIA Hereditary Pan-Cancer Panel

Genetic Testing for Cancer Susceptibility Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
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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 Testing for Cancer Susceptibility Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
Page: 15 of 33

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Quest Diagnostics panels including, but may not be limited to:

  • Comprehensive Hereditary Cancer Panel
  • Guideline-Based Hereditary Cancer Panel
VistaSeq hereditary cancer panels including, but may not be limited to:
  • Hereditary Cancer Panel
  • Hereditary Cancer Panel without BRCA
  • PGL or PCC genetic testing for unaffected individuals
  • Retinoblastoma multigene panel including evaluation of the RB1 gene using a multigene panel
  • VHL genetic testing for unaffected individuals

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

Additional information about inherited cancer syndromes may be found from the following websites:

  • Background
    • American Cancer Society
    • National Cancer Institute
    • National Library of Medicine

Medical Alternatives

Alternatives to multigene panels include, but may not be limited to:

  • Single-site genetic or targeted multigene testing for only those genes associated with hereditary cancer syndromes based on personal and family history

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

Genetic Testing for Cancer Susceptibility Effective Date: 02/02/2023
Revision Date: 02/02/2023
Review Date: 02/02/2023
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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.

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Revision Date: 02/02/2023
Review Date: 02/02/2023
Policy Number: HUM-0535-022
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HCPCS Code(s)

  • 50265 - Genetic counseling, under physician supervision, each 15 minutes
  • 53840 - DNA analysis for germline mutations of the RET proto-oncogene for susceptibility to multiple endocrine neoplasia type 2
  • $3841 - Genetic testing for retinoblastoma
  • $3842 - Genetic testing for Von Hippel-Lindau disease
References
  • American Academy of Dermatology (AAD). Guidelines of care for the management of primary cutaneous melanoma. https://www.aad.org. Published January 2019. Accessed December 16, 2022.
  • American Academy of Endocrine Surgeons (AAES). Clinical Practice Guideline. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). https://www.endocrinesurgery.org. Published 2012. Accessed December 16, 2022.
  • American Academy of Endocrine Surgeons (AAES). Clinical Practice Guideline. Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. https://www.endocrinesurgery.org. Published 2013. Accessed December 16, 2022.
  • American Academy of Endocrine Surgeons (AAES). Clinical Review & Education. The American Association of Endocrine Surgeons guidelines for definitive management of primary hyperparathyroidism. https://www.endocrinesurgery.org. Published August 10, 2016. Accessed December 16, 2022.
  • American Academy of Ophthalmology (AAO). Screening children at risk for retinoblastoma: consensus report from the American Association of Ophthalmic Oncologists and Pathologists. https://www.aao.org. Published March 2018. Accessed December 20, 2022.
  • American Association of Clinical Endocrinologists (AACE). AACE/AAES Guidelines. American Association of Clinical Endocrinologists and American Association of Endocrine Surgeons medical guidelines for the management of adrenal incidentalomas. https://www.aace.com. Published 2009. Accessed December 16, 2022.
  • American Cancer Society (ACS). Genetic counseling and testing for people at high risk of melanoma. https://www.cancer.org. Updated August 14, 2019. Accessed December 22, 2022.
  • American College of Gastroenterology (ACG). ACG Clinical Guideline. Genetic testing and management of hereditary gastrointestinal cancer syndromes. https://gi.org. Published February 2015. Accessed December 16, 2022.
  • American College of Medical Genetics and Genomics (ACMG). ACMG Practice Guidelines. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. https://www.acmg.net. Published 2014. Updated 2019. Accessed December 16, 2022.
  • American Thyroid Association (ATA). Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma: The American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma. https://www.thyroid.org. Published 2015. Accessed December 16, 2022.
  • American Urological Association (AUA). Renal mass and localized renal cancer: AUA Guideline. https://www.auanet.org. Published 2021. Accessed December 22, 2022.
  • Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup. ESMO Open. 2022;7(4):100525. https://www.ncbi.nlm.nih.gov/pmc. Accessed December 2, 2022.
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Accessed December 7, 2022.
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Appendix A

Pre- and Post-Test Genetic Counseling Criteria

Pre- and post-test genetic counseling performed by any of the following qualified medical professionals:

  • Genetic counselor who is board-certified or board-eligible by the American Board of Medical Genetics and Genomics (ABMGG) or American Board of Genetic Counseling, Inc (ABGC) and is not employed by a commercial genetic testing laboratory; OR
  • Genetic clinical nurse (GCN) or advanced practice nurse in genetics (APNG) who is credentialed by the Genetic Nursing Credentialing Commission (GNCC) or the American of Nurses Credentialing Center (ANCC) and is not employed by a commercial genetic testing laboratory; OR
  • Medical geneticist who is board-certified or board-eligible by ABMGG; OR
  • Treating physician who has evaluated the individual to be tested and has completed a family history of three generations

Appendix B

Family Relationships
Degree of RelationshipRelative of the Individual to be Tested
First-degreeChild, full-sibling, parent
Second-degreeAunt, uncle, grandchild, grandparent, nephew, niece, half-sibling
Third-degreeFirst cousin, great aunt, great-uncle, great-grandchild, great-grandparent, half-aunt, half-uncle

Appendix C

Tumor Types Characteristic of MEN1

The following are Tumor Types Characteristic of MEN1:

  • Adrenal adenoma
  • Bronchial carcinoid
  • Gastric carcinoid
  • Pancreatic or duodenal neuroendocrine tumor (gastrinoma, glucagonoma, insulinoma, VIPoma/somatostatinoma)
  • Parathyroid adenoma or hyperplasia
  • Pituitary adenoma
  • Primary hyperparathyroidism
  • Thymic carcinoid

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Appendix D

Tumor Types Characteristic of MEN4

The following are Tumor Types Characteristic of MEN4:

  • Pancreatic or duodenal neuroendocrine tumor (gastrinoma, glucagonoma, insulinoma, VIPoma/somatostatinoma)
  • Papillary thyroid cancer
  • Parathyroid adenoma or hyperplasia
  • Pituitary adenoma