Development of the studies

The NCGC and the COST Action broadly aimed to explore overall themes of relevance for PM including the feedback of genetic research results to research participants, the governance of informed consent, and potential overall challenges to the realization of PM. How to explore these themes was not outlined in details in the project descriptions, although recommendation was made to use deliberative processes to engage stakeholders. The studies included in this thesis primarily developed through discussions within the projects and in partnership with my colleagues in the NCGC and the COST Action. These discussions enabled us to map out key considerations on the horizon and identify specific areas we could explore, and ways to explore these areas, that would help inform the development of the PM agenda. The approach we undertook within the projects to develop the studies is, I believe, in line with the principles of the RRI framework which recommends that stakeholders and societal actors “work together during the whole research and innovation process” to identify societal concerns and challenges [109]. Thus, both the design of the studies, as well as the methods used to investigate the views of stakeholders, adopted the RRI approach. The sections below provide a more detailed description of how each of the four studies (papers I to IV) were developed.

Study 1 (paper I)

The NCGC comprised several sub-studies, including the NoSarC study, a national study on gene mutations in sarcoma (a rare form of cancer that grows in tissue or bone) [110]. The researchers associated with this study expected to produce findings that would be particularly important for the participants, including information about their individual predisposition for

cancer. Thus, the NoSarC study provided an “in-vivo” opportunity to investigate how to provide such information to research participants. This was a main research goal of the NCGC ELSA work package in which I participated. In parallel, the COST Action aimed to explore whether the right conditions are in place in Europe for enabling the feedback of results of potential health utility to research participants [28]. The need to find ways to feedback information to participants in the NCGC, and the prominence of feedback issues in Europe, led us to engage with PM researchers in the COST Action to explore their views regarding challenges that may arise when research projects plan to feedback genetic research results to research participants, and potential strategies to address these challenges.

Doing so was considered useful knowing that research projects such as the NCGC are often multi-site projects, and that practical issues may be similar across countries (e.g. which exact results to provide, how, according to which criteria). Results from this work are reported in paper I.

Study 2 (paper II)

The NCGC also aimed to explore how patients such as those participating in the NoSarc study [110] may react when being offered the possibility to learn about their genetic risk predisposition. Currently, little is known regarding how patients and citizens may behave when they receive genetic risk information, for instance, whether they worry more about their health or actively use such information to monitor their health [54]. In parallel, the COST Action was interested in exploring how patients and citizens may behave when individual risk information, and individualized prevention and treatment, become more available. The Action planned to conduct public hearings at the end of the Action period to investigate the views of the public regarding the use of genetic tests [19]. In the NCGC ELSA work package, we decided to explore this topic in two ways. First, we conducted a study to identify the types of

new behaviours that patients and citizens may endorse under PM. Recent reports (listed in paper II) produced by policymakers extensively describe these behaviours. We reviewed these reports to explore whether the endorsement of these new behaviours is realistic. Results from this work are presented in paper II.

Second, we conducted interviews among research participants in the NoSarC study during the fall of 2015 and spring 2016 to investigate their interest in their individual genetic research results, and potential use of such results. We also investigated the views of health care professionals on this same topic. This work was designed as a joint study – the NoSarC ELSA study - between the researchers participating in the ELSA work package. Due to the timeline of this study, and because its design was particularly fit to address the research questions to be explored by the health economist in our work package, it was decided that the results would be integrated in the PhD thesis in health economics that will be finalized in 2018. The results are currently being analysed and will be described in a scientific paper that is under preparation (personal reference: Iyer AL, Bentzen HB, Budin-Ljøsne I, Lindskog B. Sarcoma patient’s and health care professionals' perspectives on the production and use of individual genetic research results: An ethical legal, health economics and anthropological study -- NoSarC – ELSA).

Study 3 (paper III)

Both the NCGC and the COST Action aimed to understand how to integrate PM in health care systems in a way that is compatible with the needs and aspirations of patients. Patient and interest organizations (PIOs) have close contact with patients and their families and may provide qualified insight into what patients consider as most critical in terms of health care [6]. The NCGC already had some established collaborations with PIOs such as the Norwegian

Cancer Society [111] and the Norwegian patient organization for sarcoma patients [112]. The COST Action also aimed to engage with PIOs [19]. We therefore decided that it would be useful to engage with PIOs to investigate their views regarding challenges to the realization of PM, and potential strategies to address these challenges, knowing that, currently, few empirical studies exist to document such views [67, 113]. Making use of our contacts in the NCGC, and in order to get a broad understanding of how PIOS view PM, we contacted PIOs working within a variety of disease areas, nationally and internationally. Results from this work are described in paper III.

Study 4 (paper IV)

The NCGC aimed to investigate how to best design informed consent to inform research participants in the NoSarC study about the possibility of receiving genetic risk information.

The NCGC researchers experienced that traditional forms of consent were ill-adapted to provide complex information to participants in an open, understandable, and transparent way [114]. Simultaneously, the COST Action aimed to investigate how dynamic consent, a concept describing the use of online platforms for consent collection, may facilitate an ongoing and interactive consent process [115]. Although some projects have tested the use of dynamic consent [116, 117], and the pros and cons of dynamic consent have been thoroughly discussed [115, 118], still little is known regarding how dynamic consent can help address the types of challenges that researchers usually encounter in PM research such as research involving the use of genome sequencing technologies. We therefore decided to explore the views of PM researchers on this topic, using the network of the COST Action.

Results from this work are reported in paper IV.

By conducting the four studies above, we hoped to gain new insight into the types of issues and concerns that key stakeholders of PM have, and potential strategies they propose to address these issues. However, it is important to mention that these four studies do not aim to identify all potential challenges that may arise when developing PM. Rather, they provide an indication of what key stakeholders consider important at a certain point in time regarding specific aspects of PM. The approach described below was used to conduct the studies.