Widening cancer gene testing is cost effective and could prevent millions of cancer cases

Screening entire populations for breast and ovarian cancer genes could prevent millions more breast and ovarian cancer cases across the world compared to current clinical practice, according to a global study led by Queen Mary University of London

Screening entire populations for breast and ovarian cancer gene mutations could prevent millions more breast and ovarian cancer cases across the world compared to current clinical practice, according to an international study led by Queen Mary University of London. The research also shows that it is cost effective in high and upper-middle income countries.

The most well-known breast and ovarian cancer causing genes are BRCA1 and BRCA2. These gene mutations cause around 10-20 per cent of ovarian and 6 per cent of breast cancers. If mutation carriers could be identified before they develop disease, most of these cancers could be prevented by drugs, increased screening or surgery.

Current clinical guidelines globally only recommend genetic testing for high-risk women, for example, if they fulfil certain clinical criteria or if there is a strong family history of breast or ovarian cancer. However, over 50 per cent of BRCA carriers do not meet these criteria so are not tested, and over 97 per cent of BRCA carriers in the UK population remain unidentified.

This new study was supported by the NHS Innovation Accelerator Fellowship and women’s cancer charity The Eve Appeal and published in the journal Cancers. The researchers estimated the cost-effectiveness and health impact of BRCA testing in the general population, compared with current standard 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 a number of scenarios of population based BRCA-testing and compared the costs and health impact to the current family history based policy. Cost effectiveness was calculated from both a societal and a payer perspective. A payer perspective only includes medical costs incurred by the health system or health providers (such as costs of genetic testing, screening, prevention and cancer treatment). A societal perspective also takes into account costs such as the impact of income lost from inability to work and shorter life spans due to cancer.

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 like China and Brazil. Costs of BRCA testing would need to fall to around USD $172 to become cost effective in low income countries like India.

Findings suggest that population based BRCA testing can prevent an additional 2,319-2,666 breast cancer and 327-449 ovarian cancer cases per million women than the current clinical strategy. Over the course of a lifetime, this translates to preventing around an additional 57,700 breast cancer and 9,700 ovarian cancer cases in the UK; 269,000 breast cancer and 43,800 ovarian cancer cases in the USA; 15,000 breast cancer and 2,500 ovarian cancer cases in the Netherlands; 1,050,300 breast cancer and 154,700 ovarian cancer cases in China; 156,300 breast cancer and 25,170 ovarian cancer cases in Brazil; and 692,570 breast cancer and 97,650 ovarian cancer cases in India.

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.”

Athena Lamnisos, CEO, Eve Appeal said: “We must invest in cancer prevention – this is what will save most lives and also be cost effective within cash-strapped healthcare systems. The evidence emerging from this study is an exciting step forward: we can stop cancer before it has a chance to start through broadening a simple genetic test to a wider population. At The Eve Appeal we work with women given a heart-breaking diagnosis of cancer, this is really hard news to process when they find out they carry a mutation which could have been identified at an early stage and their cancer prevented. For those women and their loved ones, this research provides hope.”

This research was led by Prof Ranjit Manchanda (Queen Mary University of London) and supported by Dr Rosa Legood (London School of Hygiene & Tropical Medicine). This research was an international collaboration involving research teams from Queen Mary University of London, London School of Hygiene & Tropical Medicine, and involved Amsterdam UMC, Vrije Universiteit Amsterdam (Netherlands); Universidade de Sao Paulo, Sao Paulo (Brazil); Peking University, Beijing (China); Indian Institute of Technology, Kharagpur (India); Presidency University, Kolkata (India); Tata Medical Centre, Kolkata (India); University of Melbourne, Victoria (Australia); Newcastle University (UK).

For more information, please contact:

Joel Winston

Communications Manager (School of Medicine and Dentistry)

Queen Mary University of London

[email protected]

Tel: +44 (0)7968 267 064

Notes to the editor

* Research paper: ‘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.

About Queen Mary University of London

At Queen Mary University of London, we believe that a diversity of ideas helps us achieve the previously unthinkable.

In 1785, Sir William Blizard established England’s first medical school, The London Hospital Medical College, to improve the health of east London’s inhabitants. Together with St Bartholomew’s Medical College, founded by John Abernethy in 1843 to help those living in the City of London, these two historic institutions are the bedrock of Barts and The London School of Medicine and Dentistry.

Today, Barts and The London continues to uphold this commitment to pioneering medical education and research. Being firmly embedded within our east London community, and with an approach that is driven by the specific health needs of our diverse population, is what makes Barts and The London truly distinctive.

Our local community offer to us a window to the world, ensuring that our ground-breaking research in cancer, cardiovascular and inflammatory diseases, and population health not only dramatically improves the outcomes for patients in London, but also has a far-reaching global impact.

This is just one of the many ways in which Queen Mary is continuing to push the boundaries of teaching, research and clinical practice, and helping us to achieve the previously unthinkable.


About the London School of Hygiene & Tropical Medicine

The London School of Hygiene & Tropical Medicine (LSHTM) is a world-leading centre for research, postgraduate studies and continuing education in public and global health. LSHTM has a strong international presence with over 3,000 staff and 4,000 students working in the UK and countries around the world, and an annual research income of £180 million.

LSHTM is one of the highest-rated research institutions in the UK, is partnered with two MRC University Units in The Gambia and Uganda, and was named University of the Year in the Times Higher Education Awards 2016. Our mission is to improve health and health equity in the UK and worldwide; working in partnership to achieve excellence in public and global health research, education and translation of knowledge into policy and practice.


About The Eve Appeal

The Eve Appeal is the only UK national charity raising awareness and funding research in the five gynaecological cancers – ovarian, womb, cervical, vaginal and vulval. It was set up to save women’s lives by funding ground-breaking research focused on developing effective methods of risk prediction, earlier detection and developing screening for these women-only cancers. The world-leading research that we fund is ambitious and challenging but our vision is simple: A future where fewer women develop and more women survive gynaecological cancers. http://www.eveappeal.org.uk

Media Contact
Joel Winston
[email protected]