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DESCRIPTIONThere 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. Refer to the Genetic Testing medical policy for coverage criteria for specific genetic tests.
This policy applies only if there is not a separate medical policy that outlines specific criteria for testing. If a separate policy does exist, then the criteria for medical necessity in that policy supersedes 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. The types of genetic tests addressed in this policy are –
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.
POLICYGenetic testing is classified into one of the four categories below. To be considered medically necessary, all criteria for the specific category must be met.
Genetic testing is considered not medically necessary when:
Genetic testing is considered investigational when there is insufficient evidence to determine whether the technology improves health outcomes.
POLICY GUIDELINESInvestigative service is defined as the use of any treatment procedure, facility, equipment, drug, device, or supply not yet recognized by certifying boards and/or approving or licensing agencies or published peer review criteria as standard, effective medical practice for the treatment of the condition being treated and as such therefore is not considered medically necessary.
The coverage guidelines outlined in the Medical Policy Manual should not be used in lieu of the Member's specific benefit plan language.
POLICY HISTORY07/18/2013: New policy added. Approved by Medical Policy Advisory Committee.
SOURCE(S)Blue Cross and Blue Shield Association Policy # 2.04.91
CODE REFERENCERefer to the Genetic Testing medical policy for coverage criteria of specific procedures.