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Widened cancer gene testing could save millions of lives

Friday July 17th 2020

Broadening cancer gene testing for breast and ovarian cancer gene mutations is cost effective and could prevent millions of cases, new research published today claims.

An international study led by Queen Mary University of London examined the gene mutations BRCA1 and BRCA2, which cause between 10% and 20% of ovarian cancers and about 6% of breast cancers.

Existing guidelines globally recommend genetic testing for high-risk women, but more than 50% of BRCA carriers do not meet the criteria and remain untested. In the UK, more than 97% of BRCA carriers are unidentified.

However, the new study, supported by NHS Innovation Accelerator Fellowship and charity The Eve Appeal, shows that if mutation carriers could be identified before they develop disease, most of these cancers could be prevented by drugs, increased screening or surgery.

The research team modelled different scenarios to estimate the cost-effectiveness and health impact of BRCA testing in the general population, compared with current standard clinical testing of high-risk women, in high-income, upper-middle income and low-income countries.

They examined cost effectiveness, which was calculated from a payer perspective including medical costs incurred by the health system or health providers, and also from a societal perspective that accounted for costs such as the impact of income lost from inability to work and shorter life spans due to cancer.

It was established that population-based testing was extremely cost effective in high- and upper-middle income countries from a payer perspective, while from a societal perspective it was cost saving in high-income countries and cost effective in middle-income countries such as China and Brazil.

Their findings, published in Cancers, suggest that population-based BRCA testing can prevent between an additional 2,319 and2,666 breast cancer cases per million and between 327 and 449 ovarian cancer cases per million than the existing clinical strategy.

In the UK, this would mean being able to prevent an additional 57,700 breast cancer cases and 5,900 breast cancer deaths, as well as 9,700 ovarian cancer cases and 5,900 ovarian cancer deaths.

Lead researcher Professor Ranjit Manchanda from Queen Mary University of London 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?

“Strategies and pathways for population testing must be developed to enable population genomics to achieve its potential for maximising early detection and cancer prevention.

“With the costs of testing falling this can provide huge new opportunities for cancer prevention and changes in the way we deliver cancer genetic testing. This approach can ensure that more women can take preventative action to reduce their cancer risk or undertake regular screening.”

Dr Rosa Legood, associate professor at the London School of Hygiene & Tropical Medicine added: “Our analysis shows that testing all women for BRCA mutations is a more cost-effective strategy which can prevent these cancers in high risk women and save lives. This approach has important implications given the effective options that are available for breast and ovarian cancer risk management and prevention for women at increased risk.”

Manchanda R, Sun L, Patel S et al. Economic Evaluation of Population-based BRCA1/BRCA2 Mutation Testing across multiple countries and Health systems. Cancers 17 July 2020

Tags: Cancer | Genetics | UK News | Women's Health & Gynaecology

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