Amanda Willis, Bettina Meiser, Mandy Ballinger, David Thomas, Sian Smith & Mary-Anne Young

This study is a collaboration with the International Sarcoma Kindred Study (ISKS) to assess the psychosocial and behavioural impact of returning clinically actionable genomic research findings to genomic research participants. The ISKS enrols individuals diagnosed with sarcoma and their relatives, with the goal of identifying the underlying hereditary causes of sarcoma. Individuals belonging to families in which the ISKS has found clinically actionable genetic information will be notified of the findings and invited attend genetic counselling to receive their results.
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Given the evidence that people referred to genetic counselling have unmet information needs, the first stage of this research involved the development of a decision aid for genomic research participants who are notified of clinically actionable findings. This decision aid will be provided alongside a letter from the ISKS notifying the research participants that actionable findings have been identified. These notified individuals will then be invited to participate in the prospective psychosocial study investigating the impact of receiving the research results. Participants in the prospective study will complete up to three questionnaires over a 12-month period. The questionnaires will collect data on the psychological and behavioural impact of receiving this information, including uptake of genetic counselling, uptake of cancer screening and family communication regarding the genetic information. A qualitative interview study will also be conducted with the aim of exploring the issues facing genomic research participants in more depth.