The Monetized Value of Knowing Genetic Information With Application to BRCA Mutation: Risk Reduction, Better Treatment, and Potential Values

Abstract

Importance Women with inherited BRCA1/2 mutations have a higher risk of breast cancer morbidity and mortality. Expanding genetic testing for all women could identify additional mutation carriers who may benefit from preventive interventions. While previous studies focused on the cost-effectiveness of BRCA testing in one disease/setting, the value of knowing BRCA information in multiple settings including breast cancer prevention needs further investigation. Objective To assess the incremental lifetime effects, costs, and net-monetary benefit (NMB) of knowing BRCA information to 40-year-old women without breast cancer by comparing two strategies; ‘with BRCA information’ and ‘without BRCA information.’ Design and Settings A decision-analytic model in combination with a Markov model and a decision tree compared lifetime effects and costs of strategy 1: “with BRCA information” versus strategy 2: “not knowing BRCA information” in the general U.S. population of women at age 40. A hypothetical cohort was simulated based on the age-specific incidence of breast cancer. The corresponding cumulative risks obtained from published literature were utilized for mutation carriers. A life-time horizon was used at discount rate of 3.5% for both effect and cost. Results were estimated for both payer and societal perspectives. Probabilistic, deterministic sensitivity analyses and varied scenario analyses assessed model uncertainty. Interventions In strategy 1, all women at the age of 40 were assumed to have undergone BRCA testing. In strategy 2, BRCA information was not available, and only women with multiple family history of breast cancer were assumed to receive same prophylactic surgery as BRCA carriers. A positive and negative result (BRCA testing for “with BRCA information” and family history testing for “without BRCA information”) prompted a different uptake of prophylactic surgery, chemoprevention, or no prevention. Main Outcomes and Measures Incremental NMB (INMB) was calculated as the monetized benefit of knowing BRCA information per person. Components of NMB included direct medical costs in the payer perspective. Indirect health costs and benefits were considered in the societal perspective. A willingness-to-pay (WTP) threshold of $150,000/QALY was utilized in INMB calculation. The net monetized value of knowing BRCA information was estimated by multiplying the INMB with the eligible population. The net monetized value of knowing BRCA information was presented for year 2020 and accumulated over the ensuing 15 years. Results Compared with strategy 2 (without knowing BRCA information), testing all general female populations at the age of 40 provided an additional 0.01 QALYs at a cost of $588, resulting in an INMB of $663 from the payer perspective and $1,006 from the societal perspective, respectively (WTP= $150,000). In a probabilistic sensitivity analysis, BRCA information showed a positive INMB for 60.1% of the simulations. Both deterministic sensitivity and scenario analyses documented the robustness of the finding. Escalated to the U.S. population of women age 40 without breast cancer, knowing BRCA status resulted in net monetized value of $1.3 billion ($2.0 billion) in one year and yielded accumulated monetized value of $18.3 billion ($27.6 billion) over next 15 years in payer (societal) perspective. Conclusions and Relevance This study quantifies the monetized value of knowing BRCA information for the general population of women age 40 without breast cancer and shows that knowing BRCA information is cost saving for payers ($1.3 billion in one year and $18.3 billion over the next 15 years) and society ($2.0 billion in one year and $27.6 billion in 15 year). This provides compelling short-term and long-term evidence for routine BRCA testing of women age 40 without breast cancer as part of wellness screening and disease prevention.