Abstract

Clinical criteria/Family history-based BRCA testing misses a large proportion of BRCA carriers who can benefit from screening/prevention. We estimate the cost-effectiveness of population-based BRCA testing in general population women across different countries/health systems. A Markov model comparing the lifetime costs and effects of BRCA1/BRCA2 testing all general population women ≥30 years compared with clinical criteria/FH-based testing. Separate analyses are undertaken for the UK/USA/Netherlands (high-income countries/HIC), China/Brazil (upper–middle income countries/UMIC) and India (low–middle income countries/LMIC) using both health system/payer and societal perspectives. BRCA carriers undergo appropriate screening/prevention interventions to reduce breast cancer (BC) and ovarian cancer (OC) risk. Outcomes include OC, BC, and additional heart disease deaths and incremental cost-effectiveness ratio (ICER)/quality-adjusted life year (QALY). Probabilistic/one-way sensitivity analyses evaluate model uncertainty. For the base case, from a societal perspective, we found that population-based BRCA testing is cost-saving in HIC (UK-ICER = $−5639/QALY; USA-ICER = $−4018/QALY; Netherlands-ICER = $−11,433/QALY), and it appears cost-effective in UMIC (China-ICER = $18,066/QALY; Brazil-ICER = $13,579/QALY), but it is not cost-effective in LMIC (India-ICER = $23,031/QALY). From a payer perspective, population-based BRCA testing is highly cost-effective in HIC (UK-ICER = $21,191/QALY, USA-ICER = $16,552/QALY, Netherlands-ICER = $25,215/QALY), and it is cost-effective in UMIC (China-ICER = $23,485/QALY, Brazil−ICER = $20,995/QALY), but it is not cost-effective in LMIC (India-ICER = $32,217/QALY). BRCA testing costs below $172/test (ICER = $19,685/QALY), which makes it cost-effective (from a societal perspective) for LMIC/India. Population-based BRCA testing can prevent an additional 2319 to 2666 BC and 327 to 449 OC cases per million women than the current clinical strategy. Findings suggest that population-based BRCA testing for countries evaluated is extremely cost-effective across HIC/UMIC health systems, is cost-saving for HIC health systems from a societal perspective, and can prevent tens of thousands more BC/OC cases.

Highlights

  • Around 10–20% of ovarian cancer (OC) [1] and 6% breast cancer (BC) [2] overall are caused by inheritable BRCA1/BRCA2 mutations

  • Our results show that from a ‘societal perspective’, population-based BRCA

  • Testing is ‘cost-saving’ and contributes to better health in HIC of the UK (ICER = $−5,639/quality-adjusted life year (QALYs); life expectancy gained = 3.0 days), USA (ICER = $−4018/QALY; life expectancy gained = 2.2 days), and The Netherlands (ICER = $−11,433/QALY; life expectancy gained = 2.8 days). It appears potentially cost-effective in Upper–Middle Income (UMIC) of China (ICER = $18,066/QALY; life expectancy gained = 1.8 days) and cost-effective in Brazil (ICER = $13,579/QALY; life expectancy gained = 3.7 days), but it is not cost-effective in India (ICER = $23,031/QALY; life expectancy gained = 2.5 days) (LMIC) for the base case

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Summary

Introduction

Around 10–20% of ovarian cancer (OC) [1] and 6% breast cancer (BC) [2] overall are caused by inheritable BRCA1/BRCA2 mutations. Women carrying BRCA1/BRCA2 mutations have a 17–44% risk of OC and 69–72% risk of BC until age 80 years [3]. Most of these cancers can be prevented in unaffected. Women can opt for risk-reducing salpingo-oophorectomy (RRSO), to reduce OC risk [4]. In BRCA women, RRSO reduces OC risk by 79–96% [4,5,6] They can opt for MRI/mammography screening, chemoprevention with selective estrogen-receptor modulators (SERM) or aromatase inhibitors [7]; or risk-reducing mastectomy (RRM) [8,9] to reduce their BC risk [10]

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