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Genomic Medicine in 2025-2030 / Martina C. Cornel and GertJan van Ommen -- Genomic Risk Perception and Implications for Patient Outcomes from Genetic Counselling / Marion McAllister -- Genomic and Biological Risk Profiling : From Medicalization to Empowerment / Mats G. Hansson, Marie Falahee and Karim Raza -- On Patients' Difficulties in Understanding Medical Risks and the Aims of Clinical Risk Communication : "They don't really understand" / Ulrik Kihlbom -- Ethical Consideration about Health Risk Communication and Professional Responsibility / Silke Schicktanz -- Uncertainty and Risk Perception in the Context of Personalized Medicine : How do Familial Relationships Matter? / Sabine Wöhlke, Marie Falahee and Katharina Beier -- Direct to Consumer Personal Genomic Testing and Trust : A Comparative Focus Group Study of Lay Perspectives in Germany, Israel, the Netherlands and the UK / Manuel Schaper, Aviad Raz, Marie Falahee, Karim Raza, Danielle Timmermans, Elisa Garcia Gonzalez, Silke Schicktanz and Sabine Wöhlke -- The Application of New Technologies to Improve Literacy among the General Public and to Promote Informed Decisions in Genomics / Serena Oliveri, Renato Mainetti, Ilaria Cutica, Alessandra Gorini and Gabriella Pravettoni -- Algorithms as Emerging Policy Tools in Medicine : Opportunities and Challenges Ahead / Frederick Bouder.

To improve healthcare policymaking, commentators have recommended the use of evidence, health technology assessment, priority setting, and public engagement in the process of policymaking. Preconception expanded carrier screening, according to the World Health Organization's definition, is a novel health technology and therefore warrants assessment, part of which involves evaluating ethical and social implications. We examined ten Swedish policymakers' perspectives on ethical and social aspects of preconception expanded screening through in-depth expert interviewing, using a semi-structured questionnaire. Respondents were affiliated to governmental and non-governmental institutions that directly influence healthcare policymaking in Sweden. The interviews were recorded, transcribed verbatim, and analyzed via inductive thematic analysis method, which generated seven themes and several subthemes. Policymakers harbored concerns regarding the economics, Swedish and international political respects, implementation procedures, and societal effects, which included long-term ones. Moreover, participants detailed the role of public engagement, research, and responsibility in regard to preconception expanded carrier screening implementation. Since this is a qualitative study, with a small non-random sample, the results may not be generalizable to all policymakers in Sweden. However, the results give a profound insight into the process and interpretative knowledge of experts, in the Swedish milieu and the extent of readiness of Sweden to implement a preconception expanded carrier screening program.

Background: Endeavors have been made to found and incorporate ethical values in most aspects of healthcare, including health technology assessment. Health technologies and their assessment are value-laden and could trigger problems with dissemination if they contradict societal norms. Per WHO definition, preconception expanded carrier screening is a new health technology that warrants assessment. It is a genetic test offered to couples who have no known risk of recessive genetic diseases and are interested pregnancy. A test may screen for carrier status of several autosomal recessive diseases and X-linked at one go. The technique has been piloted in the Netherlands and is discussed in other countries. The aim of the study was to examine values and value conflicts that healthcare experts recounted in relation to the discussion of implementation and use of preconception ECS in Sweden. Methods: We interviewed ten experts, who were associated with influencing health policymaking in Sweden. We employed systematizing expert interviews, which endeavor to access experts' specialist knowledge. There were four female and six male informants, of which four were physicians, three bioethicists, one a legal expert, one a theologian and one a political party representative in the parliament. The participants functioned as members of two non-governmental bodies and three governmental organizations. We employed thematic analysis to identify themes, categories and subcategories. Results: Two main themes surfaced: values and value conflicts. The main categories of Respect for persons, Solidarity, Human dignity, Do no harm, Health and Love formed the first theme, while values conflicting with autonomy and integrity respectively, constituted the second theme. Concepts relating to respect for persons were the most commonly mentioned among the participants, followed by notions alluding to solidarity. Furthermore, respondents discussed values conflicting with Swedish healthcare ones such as equality and solidarity. Conclusions: The experts highlighted values and concepts that are distinctive of welfare states such as Sweden and delineated how preconception ECS could challenge such values. Moreover, the analysis revealed that certain values were deemed more substantive than others, judging by the extent and detail of inference; for example, respect for persons and solidarity were on top of the list.

The participation of children in medical research raises many ethical issues, in particular regarding assent. However, little is known about children's own views on participation. This study presents results from interviews with children 10–12 years old with and without experience in a large-scale longitudinal screening study. We identified five themes: (1) knowledge about research, (2) a sense of altruism, (3) shared decision-making and right to dissent, (4) notions of integrity, privacy, and access, and (5) understanding of disease risk and personal responsibilities. We conclude that the children feel positive towards medical research, and want to take an active part in decisions and have their integrity respected. However, the study also indicates that children who had participated in longitudinal screening had a limited understanding, suggesting the vital importance of providing information appropriate to their age and maturity. This information should be provided out of respect for the children as persons, but also to promote their willingness to continue participating in longitudinal studies.

Health-care systems as well as legislators and society seem largely unprepared to face and manage the massive production of genetic risk information. Ethics committees and professional bodies usually do not involve the individuals directly concerned in defining guidelines for genetic risk communication. Therefore, they do not always reflect people's needs and preferences. We argue in this article that we currently experience a cultural shift in medicine where individuals' concerns and preferences regarding genetic risk information are playing a more significant role than before, and that this should have some normative implications. We are going toward a situation where individual citizens are approached as consumers by personal genomics companies [Prainsack: Account Res 2011;18:132-147]. In clinical and research contexts, individuals are also increasingly informed about their own responsibilities for counterbalancing their genetic risk by making individual health care and lifestyle choices. In this situation, communication of genetic risk information may rather be regulated like traffic and markets in which consumers' decision-making power has a fundamental role in the management and regulation of how a service should be provided, as well as in the creation of policy and legislation. We acknowledge that markets may be different depending on different genetic conditions. For example, genetic risk communication for rare diseases, where a close relationship with clinicians is of paramount significance, should be differently regulated than personal genetic profiles of complex diseases, where contributing risk factors related to lifestyle are modifiable by the individual.

Background Health checks can detect risk factors and initiate prevention of cardiovascular diseases but there is no consensus on how to communicate the results. The aim of this study was to investigate the preferences of the general population for communicating health check results. Methods A randomly selected sample of the Swedish population aged 40-70 years completed a discrete choice experiment survey that included questions on sociodemographics, lifestyle and health and 15 choice questions consisting of six attributes (written results, notification method, consultation time, waiting time, lifestyle recommendation and cost). Data were analyzed with a latent class analysis (LCA). Relative importance of the attributes and predicted uptake for several scenarios were estimated. Results In the analysis, 432 individuals were included (response rate 29.6%). A three-class LCA model best fit the data. Cost was the most important attribute in all classes. Preferences heterogeneity was found for the other attributes; in Class 1, receiving consultation time and the written results were important, respondents in Class 2 dominated on costs and respondents in Class 3 found consultation time, waiting time and lifestyle recommendations to be important. Health literate respondents were more likely to belong to Class 3. The predicted uptake rates ranged from 7 to 88% for different health checks with large differences across the classes. Conclusion Cost was most important when deciding whether to participate in a health check. Although cost was the most important factor, it is not sufficient to offer health checks free-of-charge if other requirements regarding how the test results are communicated are not in place; participants need to be able to understand their results.

This paper discusses how an ethical dimension can best be included within the policies, structures and services of the developing European Open Science Cloud (EOSC). Although the inclusion of ethical principles and policies are seen as of fundamental importance to the EOSC, it is difficult to anticipate all the ethical issues that may emerge as the scientific, technical, social and political landscape evolves. It is therefore seen as crucially important to have governance mechanisms in place that can ensure ethical issues are appropriately dealt with in the future, however and whenever they are presented, as well as identifying and proposing responses to current issues. An analysis of ethical issues relating to organisational conduct and policies, research conduct, research decision making, the use of data, especially sensitive personal data, and the interaction between science and society, serves to underline the complexity and diversity of potential issues.

Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could not be identified and/or confirmed. To address these challenges, the RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates the collation, discovery, sharing, and analysis of standardized genome-phenome data within a collaborative environment. Authorized clinicians and researchers submit pseudonymised phenotypic profiles encoded using the Human Phenotype Ontology, and raw genomic data which is processed through a standardized pipeline. After an optional embargo period, the data are shared with other platform users, with the objective that similar cases in the system and queries from peers may help diagnose the case. Additionally, the platform enables bidirectional discovery of similar cases in other databases from the Matchmaker Exchange network. To facilitate genome-phenome analysis and interpretation by clinical researchers, the RD-Connect GPAP provides a powerful user-friendly interface and leverages tens of information sources. As a result, the resource has already helped diagnose hundreds of rare disease patients and discover new disease causing genes. ; RD-Connect (RD-Connect, an integrated platform connecting registries, biobanks, and clinical bioinformatics) received funding from the Seventh Framework (FP7) Programme of the European Union under grant agreement No 305444. Data were analyzed using the RD-Connect GPAP, which received funding from EU projects Solve-RD, EJP-RD (grant numbers H2020 779257, H2020 825575), Instituto de Salud Carlos III (Grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB), ELIXIR-EXCELERATE (Grant number EU H2020 #676559) and ELIXIR Implementation Studies (Remote real-time visualization of human rare disease genomics ...