New research shows promise for BRCA mutation carriers as whole-population testing for breast and ovarian cancer gene mutations is deemed cost-effective

The Eve Appeal wanted to share with you an exciting step-forward in women’s cancer prevention, after research published today in Journal of the National Cancer Institute has demonstrated that screening the entire population for breast and ovarian cancer gene mutations such as BRCA1 and BRCA2, as opposed to just those at high-risk of carrying this mutation, is cost effective. It has also shown that such an approach could prevent more ovarian and breast cancers than the current clinical approach.
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.
However, 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 study 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.
As such, the recent advances in genomic medicine offer us the opportunity to deliver a new population-based predictive, preventive and personalised medicine strategy for cancer prevention. These 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.
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.
At The Eve Appeal we are very excited about these early research findings and would very much welcome discussions on the science behind the research and patient benefit for women who are at risk of developing breast and ovarian cancer.