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Wolfson Institute of Preventive Medicine - Barts and The London

Population based testing for BRCA1/BRCA2 is cost effective

An international study led by Wolfson Institute researchers has shown that population based BRCA1/BRCA2 genetic testing is cost effective in high and upper-middle income countries. The paper, published 17/07/2020 in Cancers, concludes that testing in the general population could prevent tens of thousands more breast and ovarian cancer cases than current practice.

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Inheritable BRCA1/BRCA2 mutations cause around 10-20% of ovarian and 6% of breast cancers, most of which could be prevented by chemoprevention, increased screening, or risk reducing surgery, if carriers could be identified before they are affected. Current testing guidelines are based on clinical criteria and family history, but over 50% of BRCA carriers do not meet these criteria so are not tested, and over 97% of BRCA carriers in the UK population are unidentified.

In the new study, researchers estimated the cost-effectiveness and health impact of BRCA testing in the general population, compared with current clinical testing of women designated as high risk, in countries considered high income  (UK/USA/Netherlands), upper-middle income (China/Brazil), and low-middle income (India). The researchers modelled scenarios of population based testing where BRCA carriers undertook appropriate screening and prevention interventions, and outcomes, including ovarian and breast cancer and additional heart disease deaths. These were used to assess Incremental Cost Effectiveness Ratios and Quality Adjusted Life Years. Cost effectiveness was calculated from both a societal and a payer perspective. The research team found that population based testing was extremely cost effective in high and upper middle income countries from a payer perspective. From a societal perspective it was cost saving in high income countries and cost effective in middle income countries. Costs of BRCA testing would need to fall to around USD $172 to become cost effective in low income countries. Findings suggest that population based BRCA testing can prevent an additional 2319-2666 breast cancer and 327-449 ovarian cancer cases per million women than the current clinical strategy. This translates to around an additional 57,700 breast cancer and 9700 ovarian cancer cases in the UK.

Lead author of the multicentre international author collaboration, Professor Ranjit Manchanda of the Wolfson Institute said: General population BRCA testing can bring about a new paradigm for improving global cancer prevention. Why do we need to wait for people to develop a preventable cancer to identify others in whom we can prevent cancer? Implementation studies are urgently needed, and strategies and pathways for population testing must be developed to enable population genomics to achieve its potential for maximising early detection and cancer prevention.


This study was supported by funding from an NHS Innovation Accelerator Fellowship and The Eve Appeal.

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 Cui8, Patricia Coelho de Soarez, Zakir Husain, John Hopper, Zia Sadique, Asima Mukopadhyay, Li Yang, Johannes Berkhof and Rosa Legood. Cancers, 17  July 2020