A new study led by researchers from Barts Cancer Institute has suggested that screening the entire population for breast and ovarian cancer gene mutations, as opposed to just those at high-risk of carrying this mutation, would be cost-effective and could prevent more cases than the current clinical approach.
The study, published today in the Journal of the National Clinical Institute, 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, concluding that the most cost-effective strategy was whole-population testing for multiple cancer genes.
Fiona Hazell, Director of Policy and Engagement at Breast Cancer Now, said:
“This is a promising suggestion, but we need further research into how this approach could be delivered, and whether women might want it, before we can understand what impact it could have for the NHS. While a very interesting study, assumptions have been made about what action women would take if they discovered they carried a genetic fault, which can be an incredibly difficult choice.
“While this approach could give more women the choice to know whether they are at an increased risk of cancer because of their genes, whole-population screening is also not without its challenges and risks. For example, undergoing testing for genetic faults that increase your cancer risk can also be a very anxious process for many, which would need to be carefully considered.
“With more women being diagnosed with breast cancer than ever before, finding better ways to identify those at a higher risk of the disease will be critical to preventing more cases. Most women will not have a genetic fault that increases their risk of breast cancer, but identifying those who do is crucial as they can take steps to reduce their risk and detect any possible signs or symptoms earlier.
“Currently, genetic testing is offered to women who have a known family history of breast cancer. But it’s also important to note that only a small proportion of breast cancers are caused by faulty genes such as mutations in BRCA 1 or 2: out of every 100 women diagnosed with breast cancer, only 5 to 10 will be down to genetic faults like these. Ultimately, we need a prevention programme that looks at all factors contributing to breast cancer risk, and ensures that all women, whether they carry a genetic mutation or not, receive the information and support they need to reduce their overall chances of developing breast cancer.”