Highmark Commercial Medical Policy - Pennsylvania


 
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Medical Policy: L-160-006
Topic: Amyotrophic Lateral Sclerosis (ALS) Genetic Testing
Section: Laboratory
Effective Date: July 1, 2018
Issue Date: July 2, 2018
Last Reviewed: March 2018

Amyotrophic lateral sclerosis (ALS) is a disease caused by the progressive degradation of motor neurons (nerve cells that control muscle movement).

There are more than 20 genes known to cause familial ALS (FALS), many of which have clinically available genetic testing.

FALS subtypes are named based on the causative gene (e.g., ALS1 subtype is caused by SOD1 gene mutations).

Genetic testing for FALS is usually done by gene sequencing because mutations are diverse.

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.

Familial Amyotrophic Lateral Sclerosis (FALS) Genetic Testing may be considered medically necessary when the following clinical criteria have been met:

Known Familial Mutation Testing

  • Genetic Counseling
    • Pre- and post-test genetic counseling by an appropriate provider; and
  • Previous Genetic Testing:
    • No previous full gene sequencing and/or large rearrangement testing of the gene with the known familial mutation; and
    • Known familial mutation in a gene that causes amyotrophic lateral sclerosis (e.g., SOD1, C9orf72, FUS, TARDBP) identified in a 1st, 2nd, or 3rd degree relative(s); and
    • Age 18 years or older.

Full Sequence and Deletion/Duplication Analysis

  • Full gene sequencing and deletion/duplication analysis for ALS are considered experimental/investigational and, therefore, non-covered.
Procedure Codes
81400, 81401, 81402, 81403, 81404, 81405, 81406, 81407, 81408, 81479, S3800


Please see Table attachment for procedures addressed by this policy


Professional Statements and Societal Positions

No U.S. evidence-based guidelines have been identified.

Guidelines from the European Federation of Neurological Societies (EFNS, 2012) address molecular testing of ALS:

  • “Clinical deoxyribonucleic acid (DNA) analysis for gene mutations should only be performed in cases with a known family history of ALS, and in sporadic ALS cases with the characteristic phenotype of the recessive D90A mutation.”
  • “Clinical DNA analysis for gene mutations should not be performed in cases with sporadic ALS with a typical classical ALS phenotype.”
  • “In familial or sporadic cases where the diagnosis is uncertain, SMN, androgen receptor, or TARDBP, FUS, ANG, or SOD1 DNA analysis may accelerate the diagnostic process.
  • “Before blood is drawn for DNA analysis, the patient should receive genetic counselling. Give the patient time for consideration. DNA analysis should be performed only with the patient's informed consent.”

Guidelines from the European Federation of Neurological Societies (EFNS, 2011) address the molecular diagnosis of ALS and other neurogenetic disorders. They state:

  • "Currently, molecular diagnosis mainly has implications for genetic counseling rather than for therapy. However, when more directed causal therapies become available in the future, establishing a correct genetic diagnosis in a given patient will be essential. Despite the rather low prevalence sequencing of the small SOD1 gene should be considered in patients with ALS with dominant inheritance to offer presymptomatic or prenatal diagnosis, if this is requested by the family (Level B)."

For Diagnostic Purposes:
World Federation of Neurology Research Group on Motor Neuron Diseases (2015) revised the El Escorial criteria:

  • These revised criteria still do not specify when genetic testing should be done, but they do state "If a pathogenic mutation in a disease-causing gene is found in the patient and segregates with the disease the term hereditary or primary genetic ALS (HALS/GALS) should be used. The finding of a pathogenic mutation in a known gene can substitute for either lower or upper motor neuron signs, so that diagnosis of ALS can be made on the basis of UMN or LMN signs in one body region, associated with a positive genetic test.”
  • “ALS can be defined as Mendelian in inheritance if a disease-causing gene variant can be shown to segregate within a family. In such cases the genetic variant can serve as a substitute for upper motor neuron deficits or a second limb or region (rule of two).”

Consensus guidelines from the World Federation of Neurology Research Group on Motor Neuron Diseases (2000) revised the El Escorial criteria to improve ALS diagnostic sensitivity.

  • This group doesn't specify when genetic testing should be done, but they do state "The demonstration of the presence of a pathogenetically relevant gene mutation can assist in the diagnosis of ALS (such as SOD1)."
  • These criteria set a lower threshold for diagnosis when an ALS-causing mutation is known in the family. For example, a patient may be diagnosed as "Clinically Definite Familial ALS — Laboratory-supported" with evidence of only upper or lower motor neuron disease in one region; whereas a definite diagnosis without genetic test results requires upper and lower motor neuron disease in three regions.

For Predictive Purpose:

  • A 2015 expert-authored review states:  "Presymptomatic testing for a TARDBP mutation is complicated because the penetrance is unknown, the age of onset is not predictable, and preventative measures do not exist. Because of the individualized nature of predictive testing, consultation with a genetic counselor and a psychologist to obtain informed consent is recommended. At this time, no established testing protocol (e.g., as in Huntington disease) exists, although establishment of such protocols has been suggested. However, to err on the side of caution, testing centers often follow a similar protocol.
  • A European Federation of Neurological Societies Task Force (EFNS, 2012) addressed presymptomatic testing in its diagnosis and management guidelines:
    • "Presymptomatic genetic testing should only be performed in first-degree adult blood relatives of patients with a known gene mutation. Testing should only be performed on a strictly voluntary basis and should follow accepted ethical principles.”
  • Identifying a SOD1 mutation in a pre-symptomatic individual can impact future management and overall prognosis of ALS, but is considered controversial because of reduced penetrance (not everyone with a mutation will necessarily develop symptoms), lack of overall intervention or prevention strategies, and inability to predict the age of onset.

Place of Service: Inpatient/Outpatient

Experimental/Investigational (E/I) services are not covered regardless of place of service.

Amyotrophic Lateral Sclerosis (ALS) 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.

Services that do not meet the criteria of this policy will be considered experimental/investigational (E/I). A network provider can bill the member for the experimental/investigational service. The provider must give advance written notice informing the member that the service has been deemed E/I. The member must be provided with an estimate of the cost and the member must agree 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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