A web-based platform promoting family communication and cascade genetic testing for families with hereditary breast and ovarian cancer (DIALOGUE study)

The overall aim of this dissertation is to develop an eHealth intervention to promote family communication and cascade genetic testing among families concerned with Hereditary Breast and Ovarian Cancer (HBOC) syndrome. Within this context an international, multi-centre scientific project entitled "DIALOGUE" was designed that aims to develop (Phase A), and test the feasibility (Phase B) of an intervention within various genetic clinics across Switzerland and South Korea. This dissertation describes only the Phase A, the adaptation of an intervention, a web-based platform designed for families with HBOC to share genetic test results, including usability testing in a sample from Switzerland.
Chapter 1 provides a general introduction to the current field of hereditary cancer and cascade genetic testing, including the current state of eHealth technologies in science. The chapter also includes a short introduction to the prototype developed in the U.S.—as well as a description of the DIALOGUE study. In addition, the chapter summarises the main conceptual models, i.e. the Ottawa Decision Support Framework (ODSF) and the Medical Research Council (MRC) framework. These models are commonly implemented in the development and evaluation of complex interventions. The rational of this dissertation is guided by all of these elements.
Chapter 2 provides a detailed description of the dissertation’s specific aims, including the three studies conducted. The articles presented in Chapter 3 describe the methodology and findings of the dissertation. Study I comprises a systematic literature review of previous studies, with a particular focus on HBOC and Lynch syndromes. The literature review identified and synthesised evidence from psychoeducational interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition and to promote cascade genetic testing. A meta-analysis was also conducted to assess intervention efficacy in relation to these two research aims. Our findings highlight the need to develop new interventions and approaches to family communication and cascade testing for cancer susceptibility. Study II describes the state-of-the-art text mining techniques used to detect and classify valuable information from interviews with study participants concerning determinants of open intrafamilial communication regarding genetic cancer risk. This study had two major aims: 1) to quantify openness of communication about HBOC cancer risk, and 2) to examine the role of sentiment in predicting openness of communication. Our findings showed that the overall expressed sentiment was associated with the communication of genetic risk among HBOC families. This analysis identified additional factors that affect openness to communicate genetic risk. These were defined as “high-risk” factors and integrated into the design and development of the intervention. Study III describes the development of the intervention, a web-based platform designed for families with HBOC to share genetic test results. The platform was developed in line with the quality criteria set by the MRC framework. Being web-based, the platform could be accessed via a laptop, smartphone or tablet. Usability testing was applied to evaluate the prototype intervention which received high ratings on a satisfaction scale. Chapter 4 synthesises and discusses the key findings of all the studies presented in the previous chapter, and addresses study limitations and implications for future research.