PhD Candidate Profile: Tatiane Yanes

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What is your research about?

The aim of this study is to assess the psychological and behavioural outcomes of returning polygenic result to women at high-risk of breast cancer. Women who opt to take part in the study will be invited to attend a familial cancer clinic and receive their breast cancer polygenic risk. Participants will then complete up to three questionnaires assessing psychological and behavioural outcomes associated with receiving or not receiving their polygenic breast cancer risk result. I will also conduct interviews with women who opted to receive their polygenic result and explore their experience receiving their polygenic risk and understanding of this result. 

What is translational application of your research?

It is estimated that up to 20% of all breast cancers are associated with a familial risk to the disease. Women suspected of having a familial risk to breast cancer are offered genetic testing of high-or moderate-risk genes (e.g. BRCA1/2). However, less than 25% of families tested receive positive genetic testing result. This means that most families at high-risk of breast cancer receive ‘uninformative’ results. 

A new type of genetic testing has been developed called: “polygenic risk”. This test looks at multiple variations in DNA. Individually, each of these variants has a minimal effect on breast cancer risk. However, the variants can accumulate and increase a woman’s breast cancer risk. It is estimated that polygenic information can explain greater than 28% of the familial breast cancer risk, and thus has the potential to provide personalised risk information to women who would otherwise receive uninformative genetic testing result.

Testing for polygenic risk is not currently available in any clinical setting in Australia and there is limited information available on the outcomes of offering such test. If the findings from this study show that polygenic information can be delivered without causing undue psychological adverse outcomes, this will provide support for the safety of widespread clinical implementation of the test. Additionally, this study will provide data that will can be used to develop a model of genetic counselling for polygenic breast cancer risk, which addresses the psychosocial needs of patients and assists health professionals in communicating these complex results.

How would the TCRN PhD top-up scholarship help you succeed?

The TCRN Scholarship Top-Up will greatly help me complete my PhD and give me the opportunity to attend relevant conferences where I can present my findings and interact with scientist and clinicians working in my field of research. Being a member of TCRN also gives me the opportunity to attend TCRN workshops and other professional development activities that are important for early career researchers like myself.