General Approach to Genetic Testing
Genetic testing classified in one of the categories below may be considered medically necessary when all criteria are met for each category, as outlined in the Rationale section:
Genetic testing that does not meet the criteria for a specific category is considered investigational or not medically necessary, according to the standard definitions used for these terms. (See Policy Guidelines).
Genetic testing is considered not medically necessary when performed entirely for non-medical reasons (e.g., a general interest in genetic test results).
Note: This policy applies only if there is not a separate policy that outlines specific criteria for testing. If a separate policy does exist, then the criteria for medical necessity in that policy supersede the guidelines in this policy. (See Related Policies)
Genetic Testing for the Diagnosis of Inherited Peripheral Neuropathies including Charcot-Marie-Tooth
Genetic testing is considered investigational when the Blue Cross Blue Shield Association Technical Evaluation Center (TEC) criteria are not met, including when there is insufficient evidence to determine whether the technology improves health outcomes.
Any technology that fails to meet ALL of the following TEC criteria is considered to be “Investigational”:
Not Medically Necessary
Genetic testing is considered not medically necessary when:
Effective in 2013, if the specific analyte is listed in codes 81200-81355 or 81400-81408, that CPT code would be reported. If the specific analyte is not listed in the more specific CPT codes, unlisted code 81479 would be reported.
This policy does not include cytogenetic testing (karyotyping to analyze the total number and structure of the chromosomes), biochemical testing or molecular testing for infectious disease.
This policy does not address prenatal testing.
The interpretation of the results of genetic tests and the understanding of risk factors can be very difficult and complex. Therefore, most or all genetic testing for heritable conditions should be preceded by genetic counseling so that the patient understands whether genetic testing should be performed, or, if it is performed, what the potential impact of the information could be on the patient and their family.
Limitations of Genetic Testing
There are numerous commercially available genetic tests, including those used to guide intervention in symptomatic or asymptomatic individuals, to identify individuals at risk for future disorders, to predict the prognosis of diagnosed disease and to predict treatment response. This concept policy offers a framework for evaluating the utility of genetic tests, by classifying the types of genetic tests into clinically relevant categories and developing criteria that can be used for evaluating tests in each category.
The purpose of this policy is to provide assistance in evaluating the utility of genetic tests. In providing a framework for evaluating genetic tests, this policy will not attempt to determine the clinical utility of genetic testing for specific disorders. Rather, it provides guidelines that can be applied to a wide range of different tests.
Genetic testing: Genetic testing involves the analysis of chromosomes, DNA (deoxyribonucleic acid), RNA (ribonucleic acid), genes or gene products to detect inherited (germline) or non-inherited (somatic) genetic variants related to disease or health.
Carrier testing: A carrier of a genetic disorder has one abnormal allele for a disorder. When associated with an autosomal recessive or X-linked disorder, carriers of the causative mutation are typically unaffected. When associated with an autosomal dominant disorder, the individual has one normal and one mutated copy of the gene, and may be affected with the disorder, may be unaffected but at high risk of developing the disease later in life, or the carrier may remain unaffected because of the sex-limited nature of the disease.
Carrier testing may be offered to individuals (A) who have family members with a genetic condition; (B) who have family members who are identified carriers; and (C) who are members of ethnic or racial groups known to have a higher carrier rate for a particular condition.
Germline mutations: Mutations that are present in the DNA of every cell of the body, present from the moment of conception. These include cells in the gonads (testes or ova) and could therefore be passed on to offspring.
Somatic mutations: Variations that occur with the passage of time, and are restricted to a specific cell or cells derived from it. If these variations are limited to cells that are not in the gonads, these variations will not be passed on to offspring.
Pharmacogenomics: The study of how an individual’s genetic makeup affects the body’s response to drugs.
Medical policies are systematically developed guidelines that serve as a resource for Company staff when determining coverage for specific medical procedures, drugs or devices. Coverage for medical services is subject to the limits and conditions of the member benefit plan. Members and their providers should consult the member benefit booklet or contact a customer service representative to determine whether there are any benefit limitations applicable to this service or supply.
The test should be cleared or approved by the FDA, or performed in a CLIA-certified laboratory.
Peer-reviewed literature on the performance and indications for the test should be available. This evaluation of a genetic test focuses on 3 main principles: 1) the analytic validity of the test, which refers to the technical accuracy of the test in detecting a mutation that is present or in excluding a mutation that is absent; 2) the clinical validity of the test, which refers to the diagnostic performance of the test (sensitivity, specificity, positive and negative predictive values) in detecting clinical disease; and 3) the clinical utility of the test, i.e., how the results of the diagnostic test will be used to change management of the patient and whether these changes in management lead to clinically important improvements in health outcomes.
Types of genetic tests addressed in this policy
Genetic testing is considered medically necessary for a genetic or heritable disorder when the following are met:
Molecular diagnostics, code range (new codes effective 1/1/13)
Molecular pathology procedure code range
Unlisted molecular pathology procedure
Diagnosis coding would depend on the condition for which the testing is being performed, if the test is being performed as screening or carrier testing, and any family history of the condition
New Policy. Policy created with literature search through February 2013
Update Related Policies. Add 12.04.86 and 4.01.21.
Replace policy. Additional bullet added to clarify what is meant by environmental factors (“Genetic mutations that adversely affect response to exposures in the environment that are ordinarily tolerated, such as G6PD deficiency, genetic disorders of immune function, and aminoacidopathies.”).
Update Related Policies; new policy 12.04.97 added.
Update Related Policies. Add 12.04.99, 12.04.104, 12.04.105 and 12.04.106.
Update Related Policies. Add 12.04.102.
Update Related Policies. Change title to 12.04.75.
Update Related Policies; add new policies 12.04.103, 12.04.107, 12.04.108, 12.04.109, 12.04.110 and 12.04.111, all effective 12/9/13.
Update Related Policies. Change title to 12.04.504.
Disclaimer: This medical policy is a guide in evaluating the medical necessity of a particular service or treatment. The Company adopts policies after careful review of published peer-reviewed scientific literature, national guidelines and local standards of practice. Since medical technology is constantly changing, the Company reserves the right to review and update policies as appropriate. Member contracts differ in their benefits. Always consult the member benefit booklet or contact a member service representative to determine coverage for a specific medical service or supply. CPT codes, descriptions and materials are copyrighted by the American Medical Association (AMA).