Diagnosis: BRCA (gene mutation)

Treatment: in vitro fertilization (IVF)

The insurer is denied coverage for in vitro fertilization (IVF).

The denial is upheld.

This female patient has a history of BRCA (gene mutation).

BRCA mutations in women confer a high risk for breast and ovarian cancers. The recognition of the role of BRCA1 and BRCA2 mutations in some women has led to the involvement of preimplantation genetic diagnosis (PGD), recently renamed preimplantation genetic testing for monogenic disorder (PGT-M), whereby embryos are created by in-vitro fertilization (IVF) and cell(s) are removed and genetically analyzed for specific disease-related mutations.

The clinical data from well-conducted randomized controlled or cohort trials in the
prevailing peer-reviewed published medical literature is inadequate to conclude that PGD
testing is an effective diagnostic tool in this clinical scenario. There is a lack of adequate studies in which the transmission of BRCA2 has been prevented. The available data involve few cases where PGD was done but in the majority of cases reported no confirmatory testing when the baby was born nor is there long term follow up studies suggesting a decrease in neoplasia in those offspring.

The prevailing peer-reviewed published medical literature is inadequate to conclude that PGD testing prior to IVF has a beneficial effect on clinical outcomes of patients with BRCA gene mutation.

Note that of the cases reported in the scientific literature, some women developed breast cancer after treatment. In other words, there are risks involved with undergoing IVF in this population and maternal safety of IVF(PGD) in female carriers needs further evaluation.

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

The carrier's denial of coverage for the in vitro fertilization (IVF) is upheld. The medical necessity is not substantiated.