Cost-Effectiveness of Pre-Implantation Genetic Diagnosis for Brca Mutation Carriers

Introduction: Management of BRCA mutation carriers is very expensive due to preventive surgeries, screening tests, and greater likelihood of cancer treatment. Due to the autosomal dominant inheritance pattern exhibited by the mutation, these costs continue from generation to generation. One relatively new option for BRCA mutation carriers is PGD, which would eliminate the mutation in future generations.

Aim: The purpose of this study was to model the cost-effectiveness of PGD.

Methods: We developed a Markov model to compare the cost-effectiveness of conventional management of BRCA mutation carriers with that of PGD using a U.S third party payer`s perspective. In this model, health states were implememented to reflect the natural history of breast and ovarian cancer for women and prostate cancer (and breast cancer in BRCA 2 muation carriers) for men.

Results: Our Preliminary results show that for BRCA 1 muation carriers, the PGD strategy is associated with an increase of 0.29 quality adjusted life years (QALY), and cost an additional $292.68 per person, translating to an incremental cost-effectivness ratio (ICER) of $1,014.25/QALY when compared with "no PGD". For BRCA 2 muation carriers, the PGD strategy is associated with an increase of 0.17 QALYs and costs an additional $4,916.88, translating to an ICER of $28,436.10/QALY.

Conclusion: PGD for BRCA muation carriers reduces the cancer burden and is also cost-effective in the 2nd generation cohort, making it an attractive option from the perspective of patients and public payers. The cost-effectiness would increase if subsequent generations are considered since we can subtract the cost of PGD.