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MP 2.04.91 General Approach to Genetic Testing

Medical Policy    
Original Policy Date
 May 2013
Last Review Status/Date
Reviewed with literature search/5:2014
  Return to Medical Policy Index


Our medical policies are designed for informational purposes only and are not an authorization, or an explanation of benefits, or a contract.  Receipt of benefits is subject to satisfaction of all terms and conditions of the coverage.  Medical technology is constantly changing, and we reserve the right to review and update our policies periodically. 


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.


Purpose 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.

This policy applies only if there is not a separate Medical Policy Reference Manual (MPRM) policy that outlines specific criteria for testing. If a separate MPRM policy does exist, then the criteria for medical necessity in that policy supersede the guidelines in this policy.

This policy does not include cytogenetic testing (karyotyping), biochemical testing, or molecular testing for infectious disease.

This policy does not address prenatal testing. Prenatal testing involves particular ethical concerns that are not easily addressed via review of the scientific evidence.


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.


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:

  • Diagnostic testing
  • Risk assessment
  • Prognostic testing
  • Genetic variants that alter response to treatment or to an environmental factor

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). 

Policy Guidelines

Genetic testing is considered investigational when the BCBSA TEC criteria are not met, including when there is insufficient evidence to determine whether the technology improves health outcomes.

Genetic testing is considered not medically necessary when:

  • testing is not considered standard of care, such as the clinical diagnosis can be made without the use of a genetic test
  • testing is not clinically appropriate for the patient’s condition, for example, when it would not change diagnosis and/or management. Other situations where testing is not clinically appropriate include, but are not limited to:
    • testing is performed entirely for non-medical (e.g., social) reasons
    • testing is not expected to provide a definitive diagnosis that would obviate the need for further testing.
  • testing is performed primarily for the convenience of the patient, physician or other health care provider.
  • testing would result in outcomes that are equivalent to outcomes using an alternative strategy, and the genetic test is more costly.

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.

Benefit Application
BlueCard/National Account Issues

No applicable information.


General principles of genetic tests

The test should be cleared or approved by the U.S. Food and Drug Administration (FDA), or performed in a Clinical Laboratory Improvement Amendment (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) analytic validity, 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) clinical validity, which refers to the diagnostic performance of the test (sensitivity, specificity, positive and negative predictive values) in detecting clinical disease; and 3) clinical utility, 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

  1. Diagnostic testing for genetic or heritable mutations in a symptomatic individual. This refers to a molecular diagnosis defined by the presence of a known pathologic mutation. For the purposes of genetic testing, a symptomatic individual is defined as an individual with a clinical phenotype that is correlated with a known pathologic mutation.
  2. Risk assessment for genetic and heritable mutations.
    1. Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, usually later in life. These tests can be used in individuals with a family history of a genetic disorder, but who themselves have no features of the disorder at the time of testing. Predictive testing can identify mutations that increase an individual’s risk of developing disorders with a genetic basis, such as certain types of cancer or cardiovascular disease. Presymptomatic testing can determine whether a person will develop a genetic disorder, before any signs or symptoms appear, by determining whether an individual has a genetic mutation that may lead to development of the disease.
    2. Carrier testing is performed in an individual who may be at risk of passing on a mutation to their children. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions.
  3. Prognostic testing of diagnosed disease, to predict natural disease course, e.g., aggressiveness, recurrence, risk of death. This type of testing uses gene expression of affected tissue to predict the course of disease, e.g., testing breast cancer tissue with Oncotype DX
  4. Genetic variants that alter response to treatment or to an environmental factor
    1. Constitutional (germline) testing to detect genetic variants that alter risk of treatment response, adverse events, drug metabolism, drug effectiveness, etc., e.g., cytochrome p450 testing (also referred to as pharmacogenomics).
    2. Tissue-specific or tumor testing: to detect mutations that predict response to a certain type of treatment (e.g., ALK mutation in non-small-cell lung cancer to predict response to crizotinib)
    3. 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.

Medical criteria

Genetic testing is considered medically necessary for a genetic or heritable disorder when the following are met:

  1. Diagnostic testing for genetic or heritable mutations of an affected individual
    • an association of the marker with the disorder has been established AND
    • symptoms of the disease are present AND
    • a definitive diagnosis cannot be made based upon history, physical examination, pedigree analysis, standard diagnostic studies/tests AND
    • the clinical utility of a diagnosis has been established, in that a definitive diagnosis will lead to changes in clinical management of the condition, changes in surveillance or changes in reproductive decision making, and the changes will lead to improved health outcomes AND
    • establishing the diagnosis by genetic testing will end the clinical work-up for other disorders
  2. Risk assessment
    1. Predictive and presymptomatic:
      • an association of the marker with future disorder has been established AND
      • testing will lead to improved health outcomes based on prevention or early detection strategies
    2. Carrier testing
      • an association of the marker with the disorder has been established AND
      • the genetic disorder is associated with a potentially severe disability or has a lethal natural history AND
      • the results of the test will have an impact on family planning
  3. Prognostic testing
    • an association of the marker with the natural history of the disease has been established AND
    • the clinical utility of identifying the mutation has been established, in that it will lead to changes in clinical management of the condition or changes in surveillance
  4. Genetic variants that alter response to treatment or to an environmental factor
    1. Constitutional (germline) testing:
      • the association of the marker with a phenotype/metabolic state that relates to drug efficacy or adverse drug reactions has been established AND
      • the results of the genetic test will impact clinical decision making and will be expected to result in improved clinical outcomes for the patient based upon drug selection or dosage
    2. Tissue-specific or tumor testing:
      • the association of a mutation with response to a particular drug has been established AND
      • the patient is a candidate for targeted drug therapy which is associated with a specific mutation

Genetic counseling

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 on his or her family.

Limitations of genetic testing

  • The testing methods may not detect all of the mutations that may occur in a gene
  • Genetic testing may identify variants of unknown clinical significance
  • Genetic testing may not necessarily determine the clinical outcome
  • Different genes can cause the same disease (genetic heterogeneity)
  • A mutation in a gene may cause different phenotypes (phenotypic heterogeneity)
  • Some disease-causing genes may not be identified as of yet
  • Genetic testing is subject to laboratory error


  1. Available online at: Last accessed April 2013.
  2. Available online at: Last accessed April 2013.
  3. Teutsch SM, Bradley LA, Palomaki GE et al. The evaluation of genomic applications in practice and prevention (EGAPP) initiative: methods of the EGAPP Working Group. Genet Med 2009; 11(1):3-14.




CPT    See Policy Guidelines
ICD-9-CM Diagnosis    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.
ICD-10-CM (effective 10/1/15)   See note on diagnosis coding above
ICD-10-PCS (effectve 10/1/15)    Not applicable. ICD-10-PCS codes are only used for inpatient services. There are no ICD procedure codes for laboratory tests.


Genetic Tests

Policy History

Date Action Reason
05/09/13 Add to Medicine -Pathology/Laboratory section Policy created with literature search through February 2013
6/13/13 Replace policy correction only 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.”).
5/22/14 Replace policy Policy statements unchanged. No new literature has been identified for this concept policy update. Expanded framework for determining clinical utility has been added as an appendix for the categories of diagnostic testing, risk assessment, prognostic testing, and pharmacogenomics.


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