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  • Understanding the impact of genetic testing for breast cancer

Understanding the impact of genetic testing for breast cancer

UNSW 2015–2017

Professor Bettina Meiser is leading a world-first study on the impacts of testing women for common, low-risk genetic variants that can lead to breast cancer. This will provide invaluable guidance to approaching the subject with patients whose test results are complex. Better guidelines and patient education have the potential to improve breast cancer prevention.

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.

The impact

Even though genetic testing can offer increasingly valuable information to families at risk of breast cancer, for most patients the results will be complex. Clinicians need to know whether giving a patient information about polygenic risk will lead to adverse consequences, such as psychological stress or anxiety about developing cancer.

This study will contribute a framework that helps clinicians better communicate the nuances of polygenic testing and educate patients to understand their individualised results. As data become available about the benefits of this approach, it could lead to higher levels of breast cancer prevention in people genetically determined to be at-risk.

Research team

Professor Bettina Meiser
UNSW

Dr Gillian Mitchell
Professor Jane Halliday
Ms Mary-Anne Young
Associate Professor Kristine Barlow-Stewart
Dr Tony Roscioli

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