Recall-by-genotype (RbG) is a bottom-up approach using existing genetic data to design follow-up stratified studies. Genetic information may be partially disclosed at invitation, thus raising ethical issues which call for defined best practices for disclosure and communication in RbG approaches. Within the context of the ProtectMove sub-project of the Cooperative Health Research in South Tyrol (CHRIS) study, we investigated research participant perspectives on RbG communication strategies (Step 1 and 4, questionnaire with a subsample of CHRIS participants with and without previous experience of RbG, respectively). Additionally, we explored researchers’ and study personnel’s experience with RbG (Step 2 and 3, focus group discussion). In step 1 (N = 95), participants were generally satisfied with the study process. Most (71.6
A tipping point can be defined as an abrupt shift in the properties or behaviour of a system. Tipping points in complex systems from a wide variety of scientific disciplines have been compared to phase transitions in physics, but consistent methodology for modelling tipping points as phase transitions has been lacking. Here, we propose a systematic approach aimed at order parameter identification in systems outside of physics undergoing an apparent regime shift. Based on classical Landau theory, we assess the relatedness of a system's properties to the order parameter by means of two quantitatively operationalized criteria: (1) the presence of a significant level shift over the course of the tipping point and (2) increased fluctuations before the tipping point. We first demonstrate the feasibility of our method by applying it to a case study of a tipping point in major depressive disorder, resulting in a list of symptoms that are most likely to be closely related to the order parameter in this particular system. Subsequently, we probe the usefulness of our approach in the interdisciplinary context of complexity science by means of exploratory interviews with active scientists. Our results suggest a growing need for interdisciplinary methodologies in complex systems studies, to which the phase transition modelling we present could provide a valuable addition.
In the philosophy of mathematical practice, the aim is to understand the various aspects of this practice. Even though definitions are a central element of mathematical practice, the study of this aspect of mathematical practice is still in its infancy. In particular, there is little empirical evidence to substantiate claims about definitions in practice. In this article, we address this gap by reporting on an empirical investigation on how mathematicians create definitions and which roles and properties they attribute to them. On the basis of interviews with thirteen research mathematicians, we provide a broad range of relevant aspects of definitions. In particular, we address various roles of definitions and show that definitions are not just a product of mathematical factors, but also of social and contingent factors. Furthermore, we provide concrete examples of how mathematicians interact and think about definition. This broad empirical basis with a variety of examples provides an optimal starting point for future investigations into definitions in mathematical practice.
Recall by Genotype (RbG), Genotype-driven-recall (GDR), and Genotype-based-recall (GBR) strategies are increasingly used to conduct genomic or biobanking sub-studies that single out participants as eligible because of their specific individual genotypic information. However, existing regulatory and governance frameworks do not apply to all aspects of genotype-driven research approaches. The recall strategies disclose or withhold personal genotypic information with uncertain clinical utility. Accordingly, this scoping review aims to identify peculiar, explicit and implicit ethical, legal, and societal/social implications (ELSI) of RbG study designs. We conducted a systematic literature search of three electronic databases from November 2020 to February 2021. We investigated qualitative and quantitative research methods used to report ELSI aspects in RbG research. Congruent with other research findings, we identified a lack of qualitative research investigating the particular ELSI challenges with RbG. We included and analysed the content of twenty-five publications. We found a consensus on RbG posing significant ethical issues, dilemmas, barriers, concerns and societal challenges. However, we found that the approaches to disclosure and study-specific recall and communication strategies employed consent models and Return of Research Results (RoRR) policies varied considerably. Furthermore, we identified a high heterogeneity in perspectives of participants and experts about ELSI of study-specific RbG policies. Therefore, further fine-mapping through qualitative and empirical research is needed to draw conclusions and re-fine ELSI frameworks.
In this paper, we analyse how human bodies are understood and viewed in bioinformatics, partly based on participant observations of a basic bioinformatics course and interviews with bioinformatics researchers. With the proliferation of genomic data, bioinformatics has come to play a crucial role in developments in the biological and biomedical sciences. It is thus worth looking at the role of bioinformatics in current understandings of human bodies. Our analysis shows that bodies in this context can be understood as networked and calculable , along the lines of the analytical logic of informatics. Central to this view are the genome sequences that do not, as in earlier narratives on genes as essentially informational, contain bodies completely. Rather, bodies are enacted as accessible through these sequences. In the process, bodies are continuously matched to the digital image of a normal body. This normal body is an ideal rather than an average body, an ideal that arises from the possibilities and restrictions of science and computer technologies.
Much has been said about the need for improving the current definitions of scientific authorship, but an aspect that is often overlooked is how to formulate and communicate these definitions to ensure that they are comprehensible and useful for researchers, notably researchers active in international research consortia. In light of a rapid increase in international collaborations within natural sciences, this article uses authorship of this branch of sciences as an example and provides suggestions to improve the comprehensibility of the definitions of authorship in natural sciences. It assesses whether the definition of authorship provided by the European Code of Conduct for Research Integrity can deal with current issues and problems of scientific authorship. Notably, problems that are experienced in project groups with researchers coming from multiple countries. Using theories developed by Jürgen Habermas and Robert Merton, a normative framework is developed to articulate ethical authorship in natural sciences. Accordingly, enriching the current definition of authorship with normative elements and using discipline-specific metaphors to communicate them are introduced as possible ways of improving the comprehensibility of the definition of authorship in international environments. Finally, this article provides a proposal to be considered in the future revisions of the European Code of Conduct for Research Integrity.
The Netherlands has a well-established tradition of gearing science and technology to economic interests as well as societal and ethical concerns. This article outlines how national dynamics in the Netherlands have not only contributed to the adoption of Responsible Research and Innovation (RRI) frameworks but also to a distinctly Dutch meaning and institutionalization of responsibility. It identifies three core features of the Dutch context that have shaped this meaning and institutionalization: 1) a strong focus on the societal and economic relevance of research and innovation, 2) a political culture that emphasizes inclusive deliberation and collaboration, and 3) a focus on integration and synergy with respect to RRI. The integration of RRI in a collaborative system of companies, government and universities is embraced as contributing to a global leadership of the Netherlands in response to grand challenges. However, this integrative approach also limits the potential of Dutch RRI to function as a disruptive concept that challenges the status of interactions between science, technology, and society.
In the past decades, computers have become more and more involved in society by the rise of ubiquitous systems, increasing the number of interactions between humans and IT systems. At the same time, the technology itself is getting more complex, enabling devices to act in a way that previously only humans could, based on developments in the fields of both robotics and artificial intelligence. This results in a situation in which many autonomous, intelligent and context-aware systems are involved in decisions that affect their environment. These relations between people, machines, and decisions can take many different forms, but thus far, a systematic account of machine-assisted moral decisions is lacking. This paper investigates the concept of machine-assisted moral decisions from the perspective of technological mediation. It is argued that modern machines do not only have morality in the sense of mediating the actions of humans, but that, by making their own decisions within their relations with humans, mediate morality itself. A classification is proposed to differentiate between four different types of moral relations. The moral aspects within the decisions these systems make are combined into three dimensions that describe the distinct characteristics of different types of moral mediation by machines. Based on this classification, specific guidelines for moral behavior can be provided for these systems.
Evolution has met with considerable religious opposition for 150 years and is still controversial among various religious groups. This article tries to understand the evolution controversy by reframing it as a phenomenon of public understanding of science. Three paradigms were used as hypotheses for the rejection of evolution by Dutch Protestant Christians: knowledge deficit, attitude deficit and trust deficit. Ten Dutch Protestants rejecting evolution were interviewed about their views concerning evolution and science. It was found that the main reason for rejecting evolution was an a priori decision to trust the Bible more than science. Any views on science and evolution were based on this decision, so all three hypotheses, which suggest an a posteriori decision, were found to be not sufficient to explain the rejection of evolution, even though both a knowledge deficit and a trust deficit were found for some participants. However, all respondents felt that their a priori decision was supported by scientific facts. All respondents stated that evolution does not meet the criteria for good science and is therefore as unscientific as the belief in creation. Excluding evolution from science allows the respondents to retain their positive attitudes towards science.