Economic Evaluation of Population-Based BRCA1/BRCA2 Mutation Testing across Multiple Countries and Health Systems

Ranjit Manchanda, Li Sun, Shreeya Patel, Olivia Evans, Janneke Wilschut, Ana Carolina De Freitas Lopes, Faiza Gaba, Adam Brentnall, Stephen Duffy, Bin Cui, Patricia Coelho De Soarez, Zakir Husain, John Hopper, Zia Sadique, Asima Mukhopadhyay, Li Yang, Johannes Berkhof, Rosa Legood

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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.

Original languageEnglish
Article number1929
Issue number7
Publication statusPublished - 17 Jul 2020

Bibliographical note

We are grateful to Melissa Southey (Monash University, Australia) for her support of this work. The study is supported by researchers at the Barts Cancer Research UK Centre for Excellence, Queen Mary University of London (C16420/A18066). This study/analysis received full ethics approval from the Institute of Child Health/ Great Ormond Street Hospital Research Ethics Committee on (REC Reference number 08/H0713/44, Substantial Amendment 3/7/2018).

R.L., L.Y. and L.S. are supported by travel costs funded by the Royal Society UK and National Natural Science Foundation of China (7181101283). R.M. is supported through an NHS Innovation Accelerator Fellowship and by The Eve Appeal. A.B. is supported by C569/A16891 grant from Cancer Research UK.


  • BRCA
  • population testing
  • cost-effectiveness
  • ovarian cancer
  • breast cancer
  • cancer prevention


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