Whole-population testing for breast and ovarian cancer gene mutations is cost effective

January 17, 2018

Screening the entire population for breast and ovarian cancer gene mutations, as opposed to just those at high-risk of carrying this mutation, is cost effective and could prevent more ovarian and breast cancers than the current clinical approach, according to research published today in the Journal of the National Cancer Institute.

Researchers believe that implementing a programme to test all British women over 30 years age could result in thousands fewer cases of ovarian and breast cancer; up to 17,000 fewer ovarian cancers and 64,000 fewer breast cancers.

The most well-known breast and ovarian cancer causing genes are BRCA1 and BRCA2, and women carrying either a BRCA 1 or BRCA2 gene mutation have approximately a 17%-44% chance of developing ovarian cancer and a 69-72% chance of developing breast cancer over their lifetime. The population based risk for women who do not carry the gene mutation is 2% for ovarian cancer and 12% for breast cancer over their life time. Women who are known to be carriers can manage and reduce their risk of developing cancer by enhanced screening, medical prevention or risk-reducing surgery. The current clinical approach to genetic testing is based on having a personal or family history of breast or ovarian cancer.

Yet research led by researchers from Barts Cancer Institute at Queen Mary University of London and Barts Health NHS Trust, supported by the London School of Hygiene & Tropical Medicine, used complex mathematical models to compare costs and health benefits of different strategies for genetic testing. They compared strategies of population testing for breast and ovarian cancer genes with clinical criteria or family history testing. They found that the most cost-effective strategy was population testing for multiple cancer genes which prevented many more ovarian and breast cancers than current screening methods. They undertook analysis and showed that a new approach of population testing for multiple genes would be cost-effective for both UK and US health systems.

Dr Ranjit Manchanda, Consultant Gynaecological Oncologist, Barts Cancer Institute at Queen Mary University of London, and Barts Health NHS Trust, UK, says: "Recent advances in genomic medicine offer us the opportunity to deliver a new population-based predictive, preventive and personalized medicine strategy for cancer prevention. Our findings support the concept of broadening genetic testing for breast and ovarian cancer genes across the entire population, beyond just the current criteria-based approach. This could prevent thousands more breast and ovarian cancers than any current strategy, saving many lives.

"With the costs of testing falling this approach can ensure that more women can take preventative action to reduce their risk or undertake regular screening. As knowledge and societal acceptability of this type of testing increases, it can in the future provide huge new opportunities for cancer prevention and changes in the way we deliver cancer genetic testing."

Dr Rosa Legood, Associate Professor Health Economics, London School of Hygiene and Tropical Medicine says: "Our analysis shows that population testing for breast and ovarian cancer gene mutations is the most cost-effective strategy which can prevent these cancers in high risk women and save lives. This approach can have important implications given the effective options that are available for ovarian and breast cancer risk management and prevention for women at increased risk."

Athena Lamnisos, CEO, The Eve Appeal, says: "These research findings demonstrate the potential for both saving lives and costs. Whole-population genetic testing is cost-effective. If women identified as high risk act on the information that they're given, in terms risk reducing surgery, their lifetime risk of developing these women-specific cancers can be reduced. The impact that this study could have on healthcare in the future for these cancers is promising and an exciting step forward in prevention. "
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Notes to Editors: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

About Queen Mary University of London

Queen Mary University of London is one of the UK's leading universities with 23,120 students representing more than 160 nationalities.

A member of the Russell Group, we work across the humanities and social sciences, medicine and dentistry, and science and engineering, with inspirational teaching directly informed by our research. In the most recent national assessment of the quality of research, we were placed ninth in the UK amongst multi-faculty universities (Research Excellence Framework 2014).

As well as our main site at Mile End - which is home to one of the largest self-contained residential campuses in London - we have campuses at Whitechapel, Charterhouse Square, and West Smithfield dedicated to the study of medicine and dentistry, and a base for legal studies at Lincoln's Inn Fields.

Queen Mary began life as the People's Palace, a Victorian philanthropic project designed to bring culture, recreation and education to the people of the East End. We also have roots in Westfield College, one of the first colleges to provide higher education to women; St Bartholomew's Hospital, one of the first public hospitals in Europe; and The London, one of England's first medical schools.

About Barts Cancer Institute

Barts Cancer Institute (BCI) is one of the top five cancer research centres in the UK and is one of 17 Cancer Research UK Centres of Excellence. BCI's research goal is to prevent cancer and develop better diagnostic techniques and treatments. It aims to improve survival for people with cancer and enhance the quality of life for those with long-term disease. BCI, as part of the Barts and The London School of Medicine and Dentistry, is in the top 10 multi-faculty research institutions (REF 2014) in the UK.

About Barts Health NHS Trust

With a turnover of £1.4 billion and a workforce of around 16,000, Barts Health is the largest NHS trust in the country, and one of Britain's leading healthcare providers. The Trust's five hospitals - St Bartholomew's Hospital in the City, including the Barts Heart Centre, The Royal London Hospital in Whitechapel, Newham University Hospital in Plaistow, Whipps Cross University Hospital in Leytonstone and Mile End - deliver high quality compassionate care to the 2.5 million people of East London and beyond.

Queen Mary University of London

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