Appeal type: Medical necessity
Decision: Upheld

Diagnosis:  Known familial deleterious mutation.
Treatment:  Genetic Testing (code 81162).

The insurer denied coverage for Genetic Testing (code 81162).  The denial is upheld.

According to the medical records, the patient is an adult, who has no personal history of cancer. The patient's mother had bilateral breast cancer at age 43 and 44, as well as an aunt with melanoma. The mother has a known PALB2 gene mutation. The attending provider (AP) performed NGS (next generation sequencing) testing from Ambry Genetics.

Genetic Testing (code 81162) performed is not considered medically necessary for this patient.

This individual's mother had a PALB2 (partner and localizer of BRCA2 gene) mutation. There is no basis for BRCA (Breast Cancer gene) mutation testing. In the setting of a known familial deleterious mutation, the National Comprehensive Cancer Network (NCCN) for breast cancer V4.2023 states only germline sequencing is required- as opposed to NGS testing. 

"Clinical characteristics. BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The risk of developing an associated cancer varies depending on whether HBOC [Hereditary Breast and Ovarian Cancer syndrome] is caused by a BRCA1 or BRCA2 pathogenic variant. Diagnosis/testing. The diagnosis of BRCA1- and BRCA2-associated HBOC is established in a proband by identification of a heterozygous germline pathogenic variant in BRCA1 or BRCA2 on molecular genetic testing." (Petrucelli, N. et al. 2023).

"The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants associated with increased risk of breast, ovarian, and pancreatic cancer and recommended approaches to genetic testing/counseling and management strategies in individuals with these pathogenic or likely pathogenic variants. This manuscript focuses on cancer risk and risk management for BRCA-related breast/ovarian cancer syndrome and Li-Fraumeni syndrome. Carriers of a BRCA1/2 pathogenic or likely pathogenic variant have an excessive risk for both breast and ovarian cancer that warrants consideration of more intensive screening and preventive strategies. There is also evidence that risks of prostate cancer and pancreatic cancer are elevated in these carriers. Li-Fraumeni syndrome is a highly penetrant cancer syndrome associated with a high lifetime risk for cancer, including soft tissue sarcomas, osteosarcomas, premenopausal breast cancer, colon cancer, gastric cancer, adrenocortical carcinoma, and brain tumors." (Daly, M. B. et al. 2021).

"Genetic testing for inherited cancer risk is now widely used to target individuals for screening and prevention." (Rosenthal, E. T., et al. 2017).                                                         

Based on the above, the insurer's denial must be upheld. The health care plan did act reasonably and with sound medical judgment and in the best interest of the patient. The medical necessity for Genetic Testing (code 81162) performed is not substantiated.