Appeal type: Medical necessity
Decision: Overturned

Diagnosis: Genetic Risk Factors

Treatment: Laboratory testing, code 81479

The insurer denied coverage for Laboratory testing, code 81479

The denial is overturned

This is a patient who has two paternal aunts who have been diagnosed with breast cancer, and one also with ovarian cancer. The patient has a first paternal cousin who has breast cancer and the patient's paternal grandfather had prostate cancer. Myriad's Risk Genetic Testing was requested and was negative. The patient's Breast Risk Score calculated lifetime risk to 26.1% (present). The request is for Laboratory testing, code 81479, which is under review.

There are two approaches to determining the necessity for breast cancer gene (BRCA) testing: one that focuses on specific family history and another that focuses on global risk. The U.S. (United States) Preventive Services Task Force (USPSTF) recommends against routine referral for genetic counseling or routine breast cancer susceptibility genes (BRCA) testing for women whose family history is not associated with an increased risk for deleterious mutations in breast cancer susceptibility gene 1 (BRCA1) or breast cancer susceptibility gene 2 (BRCA). Certain specific family history patterns are associated with an increased risk for deleterious mutations in BRCA1 or 2 genes. Both maternal and paternal family histories are important. For non-Ashkenazi Jewish women, these patterns include:

1)Two first-degree relatives with breast cancer, one of whom was diagnosed at age 50 or younger
2)A combination of 3 or more first- or second-degree relatives with breast cancer, regardless of age of diagnosis
3)A combination of both breast and ovarian cancer among first- and second-degree relatives
4)A first-degree relative with bilateral breast cancer
5)A combination of 2 or more first- or second-degree relatives with ovarian cancer, regardless of age of diagnosis
6)A first- or second-degree relative with both breast and ovarian cancer, at any age
7) A history of breast cancer in a male relative

The criterion here is met - A combination of 3 or more first- or second-degree relatives with breast cancer, regardless of age of diagnosis.

The other approach is to use an instrument to calculate lifetime risk, which was done here. They generally require risk greater than (>) 20 percent (%) of breast cancer in general as measured by standard instruments to indicate BRCA testing. The risk in this case is above 20%.

The National Comprehensive Cancer Network (NCCN) mildly supports multi-gene testing as was done in this case. Because commercially available tests differ in the specific genes analyzed, variant classification, and other factors (e.g., methods of Deoxyribonucleic acid [DNA] and Ribonucleic Acid [RNA] analysis or option to reflex from a narrow to a larger panel; provision of financial assistance for cascade testing of relatives), it is important to consider the indication for testing and expertise of the laboratory when choosing the specific laboratory and test panel.      

Therefore, the request for Laboratory testing, code 81479, is considered medically necessary and is approved. 

"Although these results are preliminary, significant discordance also has been noted between reports comparing tissue-based next-generation sequencing tests and, in a recent report, between results from F1 (Foundation Medicine, biopsy test) and G360 (liquid biopsy) testing. Our findings indicate that in-depth comparisons of next-generation sequencing tests across larger numbers of patients with cancer are needed to improve concordance and clinical utility" (Kuderer, N. M. et al. 2017). 

Based on the above, the insurer's denial must be reversed. The health care plan did not act reasonably and with sound medical judgment and in the best interest of the patient. 

The medical necessity for Laboratory testing, code 81479 is substantiated.