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) were invited to receive their research 'polygenic testing' result. Participants were asked to complete a questionnaire before they received their result, 2 weeks after receiving the result and 12 months after receiving their result. The aim of the study was 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. The results indicate that polygenic risk testing is not associated with adverse psychological and behavioural outcomes. The results also showed that uptake of polygenic testing for breast cancer risk varies according to several testing- and patient-related factors. Knowledge of these factors will facilitate the implementation of polygenic testing in clinical practice and support informed decision-making by patients.
A/Prof Bettina Meiser
- Yanes T, et al. Breast cancer polygenic risk scores: A 12-month prospective study of patient reported outcomes measures and risk management behavior. Gen in Med 2021.
- Gregory G, et al. Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk. J Gen.Coun 2021.
- Das Gupta K, et al. Communicating polygenic risk scores in the familial breast cancer clinic. Patient Educ. Couns 2021.
- Yanes T, et al. Women's responses and understanding of polygenic breast cancer risk information. Fam Cancer 2020.
- Willis A, et al. Another piece of the pie: Influence of lived experience on risk perception among women who received a polygenic risk score for breast cancer risk. JOGC 2020.
- Yanes T, et al. Uptake of polygenic risk information among women at increased risk of breast cancer. Clinc Genet. 2019.
- Young MA, et al. Making Sense of SNPs: Women's Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks. J Genet Couns. 2018.
- Kaur R, et al. Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk. Familial Cancer. 2018.
- Forrest LE, et al. High-risk women's risk perception after receiving personalized polygenic breast cancer risk information. J Community Genet. 2018.
- Yanes T, et al. Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study. BMC Cancer. 2017.
National Health & Medical Research Council
Cancer Council NSW