Highmark Commercial Medical Policy - Pennsylvania


 
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Medical Policy: L-173-005
Topic: Familial Hypercholesterolemia Genetic Testing
Section: Laboratory
Effective Date: November 13, 2017
Issue Date: November 13, 2017
Last Reviewed: June 2017

A clinical diagnosis of Familial Hypercholesterolemia (FH) is suspected based on some combination of personal and family history of very high cholesterol, premature CHD, and cholesterol deposits, such as tendon xanthomas and corneal arcus. At least three organizations have attempted to define clinical diagnostic criteria for FH, but all criteria have recognized limitations. Genetic testing for FH can confirm a diagnosis of FH, particularly in borderline clinical cases.

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.

LDLR, APOB, PCSK9 Known Familial Mutation Testing may be considered medically necessary when the following criteria are met:

  • Clinical Consultation:
    • Pre and post-test genetic counseling by an appropriate provider; and
  • Previous Genetic Testing:
    • No previous genetic testing of LDLR, APOB, or PCSK9; and
    • LDLR, APOB, or PCSK9 mutation identified in 1st, 2nd or 3rd degree biological relative.
  • Diagnostic Testing:
    • LDL cholesterol of greater than 120 mg/dL in the absence of treatment.
Procedure Codes
81403


LDLR Full Sequence and Deletion/Duplication Analysis may be considered medically necessary when the following criteria are met:

  • Clinical Consultation:
    • Pre and post-test genetic counseling by an appropriate provider; and
  • Previous Testing:
    • No previous LDLR sequencing or deletion/duplication testing, and
    • No known LDLR, APOB, or PCSK9 mutation in the family; and
  • Diagnostic Testing: 
    • Member meets the MEDPED criteria or either the Dutch criteria or the Simon Broome criteria for possible or probable FH, and
    • Genetic testing is necessary because there is uncertainty in the clinical diagnosis.
Procedure Codes
81405, 81406


APOB Targeted Mutation Analysis or Full Sequence Analysis may be considered medically necessary when the following criteria are met:

  • Criteria for LDLR sequencing and deletion/duplication analysis is met; and
  • No previous full sequence analysis of APOB; and
  • No mutations detected in full sequencing or deletion/duplication testing of LDLR or PCSK9 sequencing.
Procedure Codes
81401, 81479


PCSK9 Full Sequence Analysis may be considered medically necessary when the following criteria are met:

  • Criteria for LDLR sequencing and deletion/duplication analysis is met; and
  • No previous genetic testing for PCSK9; and
  • No mutations detected in full sequencing or deletion/duplication analysis of LDLR or APOB sequencing.

Genetic testing for the sole purpose of treatment decisions (i.e. PCSK9 inhibitors) in the absence of a clinical suspicion supported by either the MEDPED, Dutch, or Simon Broome criteria is not a covered indication for genetic testing.

Procedure Codes
81406


Please see Table attachment for MEDPED, Dutch, and Simone Broome Criteria.


Professional Statements and Societal Positions

Evidence-based guidelines by the National Institute for Clinical Excellence of UK (NICE, 2008 (reaffirmed 2014)) support genetic testing for FH as follows:

  • “A diagnosis of FH should be made using the Simon Broome criteria, which include a combination of family history, clinical signs (specifically tendon xanthomata), cholesterol concentration and DNA testing."
  • "Healthcare professionals should offer people with a clinical diagnosis of FH a DNA test to increase the certainty of their diagnosis and to aid diagnosis among their relatives."
  • "Healthcare professionals should inform all people who have an identified mutation diagnostic of FH that they have an unequivocal diagnosis of FH even if their LDL-C concentration does not meet the diagnostic criteria."
  • "In a family where a DNA mutation is identified, not all family members may have inherited the mutation. When DNA testing has excluded FH in a member of a family, healthcare professionals should manage the person's coronary heart disease risk as in the general population."
  • "In families in which a mutation has been identified, the mutation and not LDL-C concentration should be used to identify affected relatives. This should include at least the first- and second- and, when possible, third-degree biological relatives.”
  • "In children at risk of FH because of one affected parent, the following diagnostic tests should be carried out by the age of 10 years or at the earliest opportunity thereafter.
    • A DNA test if the family mutation is known.
    • LDL-C concentration measurement if the family mutation is not known. When excluding a diagnosis of FH a further LDL-C measurement should be repeated after puberty because LDL-C concentrations change during puberty."
  • A review of new evidence began in April of 2015. As a result, an updated guideline has been created and is expected to be published in January 2017.

Consensus-based guidelines from The Cardiac Society of Australia and New Zealand (CSANZ, 2013) state: "Although the clinical picture of FH will be clear-cut in many instances, the diagnostic criteria suggest that genetic testing can provide certainty of diagnosis in some cases where confounding factors such as borderline cholesterol levels, inconclusive family histories or tendon injuries have resulted in a diagnostic dilemma."

The National Lipid Association expert panel on Familial Hypercholesterolemia (2011) made the following recommendations regarding genetic testing:

  • “Genetic screening for FH is generally not needed for diagnosis or clinical management but may be useful when the diagnosis is uncertain.”
  • “Identification of a causal mutation may provide additional motivation for some patients to implement appropriate treatment.”
  • “Importantly, a negative genetic test does not exclude FH, since approximately 20% of clinically definite FH patients will not be found to have a mutation despite an exhaustive search using current methods.”

Guidelines and Evidence - Drug Treatment

The US Food and Drug Administration approved the following PCSK9 inhibitors as treatment for FH. However, there have been no guidelines recommending that genetic testing should be performed for the sole purpose of treatment decisions (i.e. PCSK9 inhibitors) in the absence of a clinical suspicion of FH:

  • “Praluent (alirocumab) injection in adult patients with heterozygous familial hypercholesterolemia or patients with clinical atherosclerotic cardiovascular disease such as heart attacks or strokes, who require additional lowering of LDL cholesterol.”
  • “Repatha (evolocumab) injections for use in additional to diet and maximally-tolerated statin therapy in adult patients with heterozygous hypercholesterolemia, homozygous hypercholesterolemia, or clinical atherosclerotic cardiovascular disease, such as heart attacks or strokes, who require additional lowering of LDL cholesterol.”

Place of Service: Outpatient

FH genetic 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.

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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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