The use of genomic information in healthcare is increasing rapidly, and the inclusion of single nucleotide polymorphisms (SNP) testing to provide a polygenic risk score can be utilized in breast cancer risk assessment to enhance the accuracy of risk assessment and provide a more personalized estimate of breast cancer risk. However, before this testing can be implemented in the clinic we need to know how this information will be received and understood.

Study title: Assessment of patients understanding of genomic variant data and the development of a model of genetic counselling for polygenic disease.

The purpose of this qualitative psychosocial study was to explore women’s and health professionals’ experience of receiving/providing breast cancer risks based on SNP testing results. Thirty-nine participants of the ViP study with a personal history of breast cancer and a negative BRCA1/2 test result were invited to receive their individual research test result and then participate in an in-depth interview.  The results show that most of the participants viewed the information positively. They felt that it provided an explanation for their previous diagnosis of cancer, validated their previous risk management decisions and clarified their future risk of cancer. However, there was a small group who were initially shocked to learn of the increased risk of a second primary breast cancer. To explore the clinical utility and implications of introducing SNP testing into routine clinical practice, 20 Genetics and non-genetics health professionals were invited to interpret a series of hypothetical patient scenarios to determine the potential impact of this additional genetic information. The research found that the additional genetic information assisted health professionals in determining an individual’s risk of developing cancer and appropriate risk management strategies, and that, whilst they recognised the utility of the information, many health professionals wanted further research and the development of education programs and clinical guidelines prior to this testing being implemented into clinical practice.  

These results provided pilot data that led to additional funding to undertake a larger quantitative psychosocial study: Psychosocial aspects of genomic testing for breast cancer risk.


Ms Mary-Anne Young

Study title: Psychosocial aspects of genomic testing for breast cancer risk

For this study, 400 participants of the ViP study (200 women with a personal history of breast cancer and 200 women with a family history of breast cancer) have been invited to receive their research genomic test result. Participants are asked to complete a questionnaire before they receive their result, 2 weeks after receiving the result and 12 months after receiving their result.  The aim of the study is to assess how interested participants are in receiving this information, their thoughts and feelings about their decision to receive or not receive their test result and how the test result affected them. All participants who opted to receive their research result have now done so and we anticipate the final questionnaires will be completed early 2020.  We hope that the results of this study will help us to understand the best way to offer this testing in the clinics in the future.


A/Prof Bettina Meiser