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Rare, single gene variants conferring a high risk of breast cancer have been linked to hereditary breast cancer syndromes. Examples are mutations in BRCA1 and BRCA2. These, and a few others, account for less than 25% of inherited breast cancer. Moderate risk alleles, such as variants in the CHEK2 gene, are also relatively rare and apparently explain very little more of the genetic risk.

In contrast, several common SNPs associated with breast cancer have been identified primarily through genome-wide association studies of very large case-control populations. The high-risk alleles occur with high frequency in the general population, although the increased breast cancer risk associated with each is very small relative to the general population risk. Some have suggested that these common risk SNPs could be combined to achieve an individualized risk prediction either alone or in combination with traditional predictors in order to personalize screening programs in which starting age and intensity would vary by risk. In particular, the American Cancer Society has recommended that women at high risk (greater than a 20% lifetime risk) should get breast magnetic resonance imaging (MRI) and a mammogram every year, while those at moderately increased risk (15% to 20% lifetime risk) should talk with their doctors about the benefits and limitations of adding MRI screening to their yearly mammogram.

Various companies now offer such SNP-derived risk estimates. For example, deCODE (Reykjavik, Iceland) offers the deCODE BreastCancer™ test, based on a panel of 7 SNPs identified primarily in genome-wide association studies. The website, 23andme.com, which offers direct-to-consumer (DTC) testing, includes 3 SNPs in known genes in their “Health Edition” test: 2 detect common polymorphisms in BRCA1 and BRCA2 genes associated with hereditary breast cancer in Ashkenazi Jewish populations, and one that detects a CHEK2 moderate risk variant. Navigenics (Foster City, CA) includes information on breast cancer risk in their overall DTC comprehensive genetic testing panel but does not appear to identify the individual SNPs used in their panel on their website. A comprehensive list of companies offering DTC genetic testing for various diseases including breast cancer is maintained and regularly updated by the Genetics and Public Policy Center.

Tests combining the results of SNPs to predict breast cancer risk are available either as a laboratory-developed service by physician order from a clinical laboratory licensed for high complexity testing under the Clinical Laboratory Improvement Amendments (CLIA); or as a DTC laboratory-developed service. In the latter case, it is not clear that the laboratory is necessarily CLIA-licensed although some states have chosen to regulate DTC laboratories in the same way as clinical laboratories (e.g., New York state). None of these tests have been cleared by the U.S. Food and Drug Administration.

As examples, but not inclusive of all available services, The deCODE BreastCancer™ test requires a physician order (however, the deCODEme Cancer Scan, which includes a breast cancer risk estimate, does not); 23andme and Navigenics accept direct consumer test orders; and all three companies either contract with or operate CLIA-licensed laboratories to do their genetic testing. The companies themselves mathematically combine single marker results into risk estimates and provide interpretations.

Also, see the Genetic Testing for Hereditary Breast and/or Ovarian Cancer medical policy.

The coverage guidelines outlined in the Medical Policy Manual should not be used in lieu of the Member's specific benefit plan language.

07/29/2011: Policy reviewed; no changes.

07/13/2012: Policy reviewed; no changes.

01/14/2013:  Added the following new 2013 CPT code to the Code Reference section: 81479.

Non-Covered Codes

This is not an all-inclusive list of non-covered procedure codes.

All codes billed for this procedure are considered investigational and not eligible for coverage. 

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