Genetic testing performed to diagnose patients with signs and symptoms of possible genetic disease is generally covered.  In addition, the test results must have a direct effect on the patient's treatment.

Genetic testing performed on patients with no current evidence or manifestation of genetic disease (i.e., asymptomatic) is considered genetic screening and is noncovered except for those groups/programs that specifically identify coverage in benefits. This includes genetic testing performed to determine susceptibility or predisposition to diseases such as cancer and heart disease and genetic testing for carrier identification to determine if a person is a "carrier" of an abnormal gene.

The following testing is covered for symptomatic patients. The testing is also covered for asymptomatic patients when the patient's contract covers genetic screening. This is not an all-inclusive list.

• Inherited BRCA-1 or BRCA-2 mutations for breast and ovarian cancer (S3818, S3819, S3820, S3822, S3823)
• Germline mutations of the RET proto-oncogene in medullary carcinoma of the thyroid
• Inherited susceptibility to colon cancer (S3828, S3829, S3830, S3831, S3833, S3834)
• Cystic fibrosis (S3835)
• Hemochromatosis (S3837)
• Retinoblastoma (S3841)
• Von Hippel-Lindau disease (S3842)
• Alpha-thalassemia (S3845)
• E beta thalassemia (S3846)
• Tay-Sachs disease (S3847)
• Gaucher disease (S3848)
• Niemann-Pic diseases (S3849)
• Sickle cell anemia (S3850)
• Canavan disease (S3851)
• Multiple endocrine neoplasia type 2 (S3840)
• Factor V Leiden thrombophilia (S3843)
• Congenital profound deafness (S3844)
• Myotonic muscular dystrophy (S3853) 

Genetic Testing for Diagnosis or Risk Assessment of Alzheimer's Disease

Genetic testing for diagnosis or risk assessment of Alzheimer's disease (S3852, S3855) is considered experimental/investigational and not eligible for payment. This includes, but is not limited to, testing for the apolipoprotein E epsilon 4 allele, presenilin genes, or amyloid precursor gene. There is no evidence that testing for genetic mutations improves the sensitivity or specificity of clinical criteria and would not alter diagnostic testing for other causes of dementia. A participating, preferred, or network provider can bill the member for the denied service.

Date Last Reviewed: 09/2006

Genetic Testing for Mutations Associated with Malignant Melanoma Susceptibility

Genetic testing for mutations associated with susceptibility to malignant melanoma (89240) is considered experimental/investigational and not eligible for payment.  A participating, preferred, or network provider can bill the member for the denied test.  A genetic predisposition to malignant melanoma is suspected when melanoma has been diagnosed in multiple family members, when multiple primary melanomas are identified in a single patient, and when there is an early age of onset.  While some of the familial risk may be related to shared environmental factors, two main genes (CDKN2A and CDK4) involved in melanoma susceptibility have been identified.  The incidence of CDKN2A mutations in the general population is very low.  However, the incidence of CDKN2A mutations increases with a positive family history, rising to 20-40% in kindreds with 3 or more affected first degree relatives.  CDK4 has been identified in only three families worldwide.  Currently, management of patients considered at high risk for malignant melanoma focuses on reduction of sun exposure, use of sun screens, vigilant cutaneous surveillance of pigmented lesions, and prompt biopsy of suspicious lesions.  The published data on genetic testing of the CDKN2A gene focus on the underlying genetics of hereditary melanoma, identification of mutations in families at high risk of melanoma, and risk in those harboring CDKN2A mutations.  However, there is a lack of published studies that focus on how genetic testing of the CDKN2A gene would result in improvement in patient management.

Date Last Reviewed: 02/2006

Genetic testing is a complex process. The results depend on reliable laboratory procedures and accurate interpretation of results. When no code exists, molecular diagnostic testing (codes 83890-83914, 88384-88386) and cytogenetic testing (codes 88230-88291) may be reported for genetic testing. Different combinations of the codes may be reported depending on the clinical circumstances. In some cases, certain codes may be reported multiple times.

Genetic counseling (S0265, 96040) is generally provided in conjunction with genetic testing. Counseling usually occurs when the results of the tests are provided to the patient and intervention strategies are discussed.  Coverage for genetic counseling is determined according to individual or group customer benefits. When genetic testing is noncovered, the counseling performed in conjunction with the testing is also noncovered.

NOTE:

See Medical Policy Bulletins U-4 and U-6 for information on prenatal genetic testing.

Description

Genetic diseases are conditions resulting in abnormalities of DNA. Some genetic diseases are transmitted from parents to their children, and in other circumstances, genetic diseases may occur spontaneously, as in mutations.

NOTE:

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.

This medical policy may not apply to FEP.  Medical policy is not an authorization, certification, explanation of benefits or a contract.  Benefits are determined by the Federal Employee Program.

National Blue Cross Blue Shield Association Medical Policy 2.04.02, Genetic Testing for Inherited BRCA1 or BRCA2 Mutations, 03/2002

National Blue Cross Blue Shield Association Medical Policy 2.04.05, Genetic Testing for Germline Mutations of the RET Proto-Oncogene in Medullary Carcinoma of the Thyroid, 11/1998

National Blue Cross Blue Shield Association Medical Policy 2.04.08, Genetic Testing for Inherited Susceptibility to Colon Cancer Including Microsatellite Instability, 03/2002

National Blue Cross Blue Shield Association Medical Policy 2.04.13, Genetic Testing for Familial Alzheimer's Disease, 1:2006

National Blue Cross Blue Shield Association Medical Policy 2.04.44, Genetic Testing for Mutations Associated with Malignant Melanoma Susceptibility, 4/2005

Limited Family Structure and BRCA Gene Mutation Status in Single Cases of Breast Cancer, JAMA, Volume 297, No. 23, 6/2007