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

January 17, 2018, Queen Mary, University of London

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 all British women over 30 years age could result in thousands fewer cases of ovarian and breast ; up to 17,000 fewer ovarian cancers and 64,000 fewer breast cancers.

The most well-known breast and 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 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 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 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 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 -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. "

Explore further: Genetic predisposition to breast cancer due to non-brca mutations in ashkenazi Jewish women

More information: Ranjit Manchanda et al, Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women, JNCI: Journal of the National Cancer Institute (2017). dx.doi.org/10.1093/jnci/djx265

Related Stories

Genetic predisposition to breast cancer due to non-brca mutations in ashkenazi Jewish women

July 20, 2017
Genetic mutations in BRCA1 and BRCA2 increase the risk of breast and ovarian cancer in Ashkenazi Jewish women. A new article published by JAMA Oncology examines the likelihood of carrying another cancer-predisposing mutation ...

Risk-reducing mastectomy questioned for BRCA mutation carriers with prior ovarian cancer

July 11, 2017
Mutations in the BRCA gene correspond to a higher lifetime risk of developing breast and ovarian cancers, and many women who carry these mutations consider undergoing mastectomy or removal of the ovaries and fallopian tubes ...

Ovarian cancer: Genetic testing should be accessible to all women with the disease

April 15, 2015
The genes BRCA1 and BRCA2 play a significant role in hereditary breast and ovarian cancers. Recent media attention has focused on American actress Angelina Jolie's decision to have her ovaries and fallopian tubes surgically ...

New study for women with family history of breast, ovarian cancer

May 2, 2016
A new clinical study by Winship Cancer Institute of Emory University seeks to increase the number of women at hereditary risk for breast and ovarian cancer who are seen for genetic counseling services.

Family history and location of genetic fault affect risk for carriers of cancer genes

June 20, 2017
A large scale study of women carrying faults in important cancer genes should enable doctors to provide better advice and counselling for treatments and lifestyle changes aimed at reducing this risk.

Threshold for pre-emptive surgery to curb ovarian cancer risk should be halved

June 27, 2016
The current threshold for pre-emptive surgery to remove the ovaries and fallopian tubes of women aged 40+ at high risk of developing ovarian cancer should be halved, concludes research published online in the Journal of Medical ...

Recommended for you

Stem cell vaccine immunizes lab mice against multiple cancers

February 15, 2018
Stanford University researchers report that injecting mice with inactivated induced pluripotent stem cells (iPSCs) launched a strong immune response against breast, lung, and skin cancers. The vaccine also prevented relapses ...

Induced pluripotent stem cells could serve as cancer vaccine, researchers say

February 15, 2018
Induced pluripotent stem cells, or iPS cells, are a keystone of regenerative medicine. Outside the body, they can be coaxed to become many different types of cells and tissues that can help repair damage due to trauma or ...

Team paves the way to the use of immunotherapy to treat aggressive colon tumors

February 15, 2018
In a short space of time, immunotherapy against cancer cells has become a powerful approach to treat cancers such as melanoma and lung cancer. However, to date, most colon tumours appeared to be unresponsive to this kind ...

Can our genes help predict how women respond to ovarian cancer treatment?

February 15, 2018
Research has identified gene variants that play a significant role in how women with ovarian cancer process chemotherapy.

First comparison of common breast cancer tests finds varied accuracy of predictions

February 15, 2018
Commercially-available prognostic breast cancer tests show significant variation in their abilities to predict disease recurrence, according to a study led by Queen Mary University of London of nearly 800 postmenopausal women.

Catching up to brain cancer: Researchers develop accurate model of how aggressive cancer cells move and spread

February 15, 2018
A brief chat at a Faculty Senate meeting put two University of Delaware researchers onto an idea that could be of great value to cancer researchers.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.