Highmark Commercial Medical Policy - Pennsylvania

Medical Policy: L-166-004
Topic: Spinal Muscular Atrophy Testing
Section: Laboratory
Effective Date: November 13, 2017
Issue Date: November 13, 2017
Last Reviewed: June 2017

Spinal muscular atrophy (SMA) is a severe, autosomal recessive neuromuscular disease that affects 1 in 8000 to 1 in 10,000 people. SMA is caused by loss of lower motor neurons (anterior horn cells) in the spinal cord, resulting in progressive symmetrical muscle weakness and atrophy. SMA is caused by mutations in the SMN1 gene. SMN2 is another gene that is almost identical to SMN1 and located on the same chromosome. SMN2 gene mutations do not cause SMA. In fact, about 15% of unaffected people have no copies of the SMN2 gene. However, SMN2 has been shown to modify the disease severity in people with SMA. More copies (usually 3 or more) of SMN2 are associated with milder disease course. Individuals may have between zero (0) – five (5) copies of SMN2.

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.

SMN1 exon 7 deletion may be considered medically necessary when the following criteria are met:

Procedure Codes
81400



SMN1/SMN2 dosage analysis may be considered medically necessary when the following criteria are met:

Procedure Codes
81401



SMN1 known familial mutation analysis may be considered medically necessary when the following criteria are met:

Procedure Codes
81403



SMN1 sequencing may be considered medically necessary when the following criteria are met:

Procedure Codes
81405



SMN2 gene copy analysis is considered experimental/investigational and therefore non-covered. Genetic testing is not approved for SMN2 gene copy analysis for the purposes of predicting SMA prognosis.

 

Procedure Codes
81479

Professional Statements and Societal Positions

Diagnostic Testing

The International Standard of Care Committee for Spinal Muscular Atrophy issued a consensus statement in 2007 that stated the following:

  • "The first diagnostic test for a patient suspected to have spinal muscular atrophy should be the SMN gene deletion test."
  • "The current literature suggests SMN2 copy numbers correlate with spinal muscular atrophy clinical phenotypes. However, although a higher copy number of SMN2 is correlated with milder phenotype, phenotypes can vary substantially given SMN2 copy number. Therefore, predicting clinical phenotype using SMN2 copy number can be risky and is not currently recommended."

The European Federation of Neurological Societies (EFNS, 2011) published guidelines on the molecular diagnosis of various neuromuscular disorders. Regarding SMA testing they state:

  • "Screening for SMN1 deletions is indicated in SMA I-III to confirm the diagnosis and provide genetic counseling (Level B)"
  • "In adult-onset SMA, genetic testing for SBMA should be considered in males with bulbar manifestations, gynecomastia and X-linked inheritance (Level B)."
  • "As nearly all of these studies have a retrospective design and look for a specific mutation in a previously ascertained and clinically diagnosed cohort of patients, the highest achievable recommendation level will be B."

Carrier Testing

  • There is debate about whether SMA carrier screening should be offered to all couples considering pregnancy because of the relatively high carrier frequency.
  • Guidelines from the American College of Medical Genetics (ACMG, 2008) and the American College of Obstetricians and Gynecologists (ACOG, 2009) agree that carrier testing is indicated for adults with a family history of SMA.
  • However, these organizations disagree about whether testing is indicated for general population carrier screening. ACMG guidelines endorse population-based SMA carrier screening. However, ACOG guidelines state that carrier testing should not be offered to all couples because testing is complex, expensive, and available at only a few labs. They cite a lack of evidence that population carrier screening is cost-effective, and the challenges of adequate patient education regarding testing.
  • In 2011 the Association of Molecular Pathology issued their statement on SMA carrier screening stating that it is “a technology on the threshold of feasibility.” They outlined 6 concerns, 2 of which related to population carrier frequencies, another regarding the need for pilot programs, need for genotype/phenotype research, and another about technical issues with SMN1/SMN2 as outlined above.
  • In March 2017, The American College of Obstetricians and Gynecologists (ACOG) published Committee Opinion #691 “Carrier Screening for Genetic Conditions.”  While providing guidance for routine carrier testing, the Committee Opinion expanded the recommendation for spinal muscular atrophy (SMA) carrier testing from only those individuals with a family history of the disease to any woman who is pregnant or considering pregnancy.

Place of Service: Outpatient

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

SMA 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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U.S. Department of Health and Human Services
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