Understanding the impact of genetic testing for breast cancer

Background

Major advances in genomic testing are already leaving their impact on cancer care. As we develop better tools to screen for various cancer risks, there is potential to significantly improve diagnostics and treatment. However, these tools need to be applied with care. At family cancer clinics, testing for gene mutations that indicate a high risk of breast cancer is becoming commonplace, but the results of genetic testing tend only to be immediately informative for less than 20% of those tested.

For many families with a history of breast cancer, the risk can instead arise from a combination of lower-risk gene variants – this is called polygenic risk. So far there is no framework for routine testing for polygenic risk, so research is needed to develop a framework and find the best ways to educate patients and their family members who visit family cancer clinics.

The research

Professor Meiser and her team are researching the psychosocial and behavioural impact of participating in genetic testing for breast cancer risk. Their study is the first in the world to focus on women without high-risk mutations who have been tested for polygenic risk.

• Using questionnaires, the researchers are assessing the outcomes for women who have been tested for low-risk mutations.
• They are looking into the factors that influence personal health decisions, such as participating in breast cancer screening and opting for preventive methods.
• In the long-term, this research will help optimise the way clinicians work with patients who have received test results on their individual breast cancer risk.