Medical_Policy

Highmark Commercial Medical Policy - Pennsylvania

Medical Policy:	L-168-004
Topic:	Von Hippel-Lindau Disease Testing
Section:	Laboratory
Effective Date:	November 13, 2017
Issue Date:	November 13, 2017
Last Reviewed:	June 2017

Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome whose main clinical features include hemangioblastomas of the central nervous system (CNS) and retina, renal cysts and renal cell carcinoma, pheochromocytoma, and endolymphatic sac tumors.

This policy is designed to address medical guidelines that are appropriate for the majority of individuals with a particular disease, illness, or condition. Each person's unique clinical circumstances may warrant individual consideration, based on review of applicable medical records.

Policy Position Coverage is subject to the specific terms of the member’s benefit plan.

VHL Known Familial Mutation Analysis may be considered medically necessary when the following criteria are met:

Genetic Counseling:
- Pre and post-test genetic counseling; and
Previous Testing:
- No previous VHL gene testing that would have detected the family mutation; and
Diagnostic and Predisposition Testing*:
- Known family mutation in VHL identified in 1st degree relative(s). (Note: 2nd or 3rd degree relatives may be considered when 1st degree relatives are unavailable or unwilling to be tested.)

* Includes prenatal testing for at-risk pregnancies.

Procedure Codes

81403

VHL Sequencing may be considered medically necessary when the following criteria are met:

Genetic Counseling:
- Pre and post-test genetic counseling; and
Previous Testing:
- No previous VHL gene sequencing; and
- No known familial mutation; and
Diagnostic Testing for Symptomatic Individuals:
- A positive family history of VHL; and
  - Spinal or cerebellar hemangioblastoma; or
  - Retinal hemangioblastoma; or
  - Renal cell carcinoma; or
  - Pheochromocytoma; or
  - Multiple renal and/or pancreatic cysts; or
- No known family history of VHL-related findings; and
  - Two or more hemangioblastomas involving the retina, spine, and/or brain; or
  - A single hemangioblastoma and a characteristic visceral mass (such as renal cell carcinoma, pheochromocytoma, endolymphatic sac tumors, papillary cystadenomas of the epididymis or broad ligament, or neuroendocrine tumors of the pancreas); or
Predisposition Testing for Presymptomatic/Asymptomatic Individuals:
- A first-degree relative of someone with a clinical diagnosis of VHL who has had no previous genetic testing (Note that testing in the setting of a more distant affected relative will only be considered if the first-degree relative is unavailable or unwilling to be tested).

Procedure Codes

S3842, 81404

VHL Deletion/Duplication Analysis may be considered medically necessary when the following criteria are met:

Genetic Counseling:
- Pre and post-test genetic counseling; and
Previous Genetic Testing:
- There is no known familial mutation; and
- No previous deletion/duplication analysis of the VHL gene has been performed; and
- Above criteria for VHL full gene sequence analysis are met; and
- VHL sequencing was previously performed and no mutations were found.

Procedure Codes

81403

Professional Statements and Societal Positions

Consensus-based clinical diagnostic guidelines state that the diagnosis of VHL can be made in the following circumstances:

"Patients with a family history, and a CNS haemangioblastoma (including retinal haemangioblastomas), phaeochromocytoma, or clear cell renal carcinoma are diagnosed with the disease."
"Those with no relevant family history must have two or more CNS haemangioblastomas, or one CNS haemangioblastoma and a visceral tumour (with the exception of epididymal and renal cysts, which are frequent in the general population) to meet the diagnostic criteria."

A 2012 expert-authored review recommends the following testing strategy to confirm/establish the diagnosis in an affected individual:

"Genetic testing is indicated in all individuals known to have or suspected of having VHL syndrome."
"For individuals with manifestations of VHL syndrome who do not meet strict diagnostic criteria and who do not have a detectable VHL germline mutation, somatic mosaicism for a de novo VHL disease-causing mutation should be considered. In some instances, genetic testing of the offspring of such individuals reveals a VHL mutation."
The high sensitivity of the molecular test for VHL make confirming a diagnosis relatively straightforward in individuals who may have features of VHL but may not meet diagnostic criteria.

A 2012 expert-authored review states: "Use of molecular genetic testing for early identification of at-risk family members improves diagnostic certainty and reduces the need for screening procedures in those at-risk family members who have not inherited the disease-causing mutation."

The American Society of Clinical Oncologists (ASCO) position statement on genetic testing (originally published 1996; revised/affirmed in 2003 and 2010) considers VHL syndrome a Group 1 disorder: "Tests for families with well-defined hereditary syndromes for either a positive or negative result will change medical or prenatal management, and for whom genetic testing may be utilized as part of the routine medical care."

The 2003 update specifically addresses issues around genetic testing in affected and at-risk children:
- "ASCO recommends that the decision to offer testing to potentially affected children should take into account the availability of evidence-based risk-reduction strategies and the probability of developing a malignancy during childhood. Where risk-reduction strategies are available or cancer predominantly develops in childhood, ASCO believes that the scope of parental authority encompasses the right to decide for or against testing."

Place of Service: Outpatient

VHL testing is typically an outpatient procedure which is only eligible for coverage as an inpatient procedure in special circumstances, including, but not limited to, the presence of a co-morbid condition that would require monitoring in a more controlled environment such as the inpatient setting.

The policy position applies to all commercial lines of business

Denial Statements

Services that do not meet the criteria of this policy will not be considered medically necessary. A network provider cannot bill the member for the denied service unless: (a) the provider has given advance written notice, informing the member that the service may be deemed not medically necessary; (b) the member is provided with an estimate of the cost; and (c) the member agrees in writing to assume financial responsibility in advance of receiving the service. The signed agreement must be maintained in the provider’s records.

Links

Link to References

Medical policies do not constitute medical advice, nor are they intended to govern the practice of medicine. They are intended to reflect Highmark's reimbursement and coverage guidelines. Coverage for services may vary for individual members, based on the terms of the benefit contract.

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U.S. Department of Health and Human Services
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Room 509F, HHH Building
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