Diagnosis: Breast Cancer.
Treatment: Breast Cancer Gene (BRCA) Testing.
The insurer denied coverage for BRCA testing.
The denial is upheld.

The patient is a female who has a mother and grandmother who had breast cancer. She is of Ashkenazi Jewish decent. The treating provider performed breast cancer (BRCA) 1/2 genetic testing, which is the topic of this review.

The current procedural terminology (CPT) code 81162- BRCA1 (BRCA1, deoxyribonucleic acid (DNA) repair associated), BRCA2 (BRCA2 DNA repair associated) (e.g hereditary breast and ovarian cancer) gene analysis; full sequence analysis and full duplication/deletion analysis (i.e detection or large gene arrangements) performed GeneDx is not considered medically necessary for this patient. For this individual of Ashkenazi Jewish descent, with family history of breast cancer, should have undergone founder mutational analysis. Whole BRCA 1/2 testing is not warranted as initial screening in this population unless the screening for founder mutations is negative. One population-based study revealed that genetic testing based on family history criteria alone may miss up to one-half of mutation carriers among those of Ashkenazi Jewish descent. In this study, 8195 unselected Ashkenazi Jewish men were tested, of whom 175 BRCA1/2 founder mutation carriers were identified. One-half of these carriers had no significant family history of breast or ovarian cancers. Their female relatives were then offered testing, which revealed 211 mutation carriers. The resulting breast and ovarian cancer risks were similar to those quoted for BRCA1/2 mutation carriers in the literature.

Therefore, the requested Gene DX panel testing was not warranted as the founder mutational testing was not performed.

"In the Ashkenazi Jewish (AJ) population of Israel, 11% of breast cancer and 40% of ovarian cancer are due to three inherited founder mutations in the cancer predisposition genes BRCA1 and BRCA2. For carriers of these mutations, risk-reducing salpingo-oophorectomy significantly reduces morbidity and mortality. Population screening for these mutations among AJ women may be justifiable if accurate estimates of cancer risk for mutation carriers can be obtained. We therefore undertook to determine risks of breast and ovarian cancer for BRCA1 and BRCA2 mutation carriers ascertained irrespective of personal or family history of cancer. Families harboring mutations in BRCA1 or BRCA2 were ascertained by identifying mutation carriers among healthy AJ males recruited from health screening centers and outpatient clinics. Female relatives of the carriers were then enrolled and genotyped. Among the female relatives with BRCA1 or BRCA2 mutations, cumulative risk of developing either breast or ovarian cancer by age 60 and 80, respectively, were 0.60 (± 0.07) and 0.83 (± 0.07) for BRCA1 carriers and 0.33 (± 0.09) and 0.76 (± 0.13) for BRCA2 carriers. Risks were higher in recent vs. earlier birth cohorts (P = 0.006). High cancer risks in BRCA1 or BRCA2 mutation carriers identified through healthy males provide an evidence base for initiating a general screening program in the AJ population. General screening would identify many carriers who are not evaluated by genetic testing based on family history criteria. Such a program could serve as a model to investigate implementation and outcomes of population screening for genetic predisposition to cancer in other populations." (Gabai-Kapara, E. et al. 2014).

The health care plan did act reasonably and with sound medical judgment and in the best interest of the patient.

The insurer's denial of coverage for the current procedural terminology (CPT) code 81162- BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2 DNA repair associated) (e.g hereditary breast and ovarian cancer) gene analysis; full sequence analysis and full duplication/deletion analysis (i.e. detection or large gene arrangements) performed by GeneDx is upheld. Medical Necessity is not substantiated.