Mobile devices with health apps, direct-to-consumer genetic testing, crowd-sourced information, and other data sources have enabled research by new classes of researchers. Independent researchers, citizen scientists, patient-directed researchers, self-experimenters, and others are not covered by federal research regulations because they are not recipients of federal financial assistance or conducting research in anticipation of a submission to the FDA for approval of a new drug or medical device. This article addresses the difficult policy challenge of promoting the welfare and interests of (...) research participants, as well as the public, in the absence of regulatory requirements and without discouraging independent, innovative scientific inquiry. The article recommends a series of measures, including education, consultation, transparency, self-governance, and regulation to strike the appropriate balance. (shrink)

Researchers now commonly collect biospecimens for genomic analysis together with information from mobile devices and electronic health records. This rich combination of data creates new opportunities for understanding and addressing important health issues, but also intensifies challenges to privacy and confidentiality. Here, we elucidate the “web” of legal protections for precision medicine research by integrating findings from qualitative interviews with structured legal research and applying them to realistic research scenarios involving various privacy threats.

In their article “The Rise of Citizen Science in Health and Biomedical Research,” Wiggins and Wilbanks (2019) present a new typology for understanding the complex landscape of health and biomedical...

The ethical (and philosophical) issues arising in citizen science are fascinating, challenging, and potentially pathbreaking in that they force us to reconsider the conceptual and regulatory catego...

In this paper, I argue that the concept of normality in medical research and clinical practice is inextricable from the concept of ambiguity. I make this argument in the context of Edmund Pellegrino's call for a renewed reflection on medicine’s basic concepts and by drawing on work in critical disability studies concerning Deafness and body integrity identity disorder. If medical practitioners and philosophers of medicine wish to improve their understanding of the meaning of medicine as well as its concrete practice, (...) I contend that they should take seriously the import and centrality of ambiguity for biomedicine. (shrink)

The UK Chief Medical Officer’s 2016 Annual Report, Generation Genome, focused on a vision to fully integrate genomics into all aspects of the UK’s National Health Service. This process of integration, which has now already begun, raises a wide range of social and ethical concerns, many of which were discussed in the final Chapter of the report. This paper explores how the UK’s 100,000 Genomes Project —the catalyst for Generation Genome, and for bringing genomics into the NHS—is negotiating these ethical (...) concerns. The UK’s 100 kGP, promoted and delivered by Genomics England Limited, is an innovative venture aiming to sequence 100,000 genomes from NHS patients who have a rare disease, cancer, or an infectious disease. GEL has emphasised the importance of ethical governance and decision-making. However, some sociological critique argues that biomedical/technological organisations presenting themselves as ‘ethical’ entities do not necessarily reflect a space within which moral thinking occurs. Rather, the ‘ethical work’ conducted by organisations is more strategic, relating to the politics of the organisation and the need to build public confidence. We set out to explore whether GEL’s ethical framework was reflective of this critique, and what this tells us more broadly about how genomics is being integrated into the NHS in response to the ethical and social concerns raised in Generation Genome. We do this by drawing on a series of 20 interviews with individuals associated with or working at GEL. (shrink)

This paper problematises the notions of public or common good as weighed against individual sovereignty in the context of medical research by focusing on genetic research. We propose the notion of collective good as the good of the particular collective in which the research was conducted. We conducted documentary and interview-based research with participant representatives and research leaders concerned with participant involvement in leading genetic research projects and around two recent genetic data controversies: the case of the UK Wellcome Sanger (...) Institute, accused of planning unauthorised commercialisation of African DNA samples, and the case of the company Genuity Science, which planned genetic research on brain tumour samples in Ireland with no explicit patient consent. We advocate for greater specificity in circumscribing the collective to which genetic research relates and for greater efforts in including representatives of this collective as research coleaders in order to enable a more inclusive framing of the good arising from such research. Such community-based participant cogovernance and coleadership in genetic research is vital especially when minorities or vulnerable groups are involved, and it centrally requires community capacity building to help collectives articulate their own notions of the collective good. (shrink)

Count Me In (CMI) was launched in 2015 as a patient-driven research initiative aimed at accelerating the study of cancer genomics through direct participant engagement, electronic consent and open-access data sharing. It is an example of a large-scale direct-to-patient (DTP) research project which has since enrolled thousands of individuals. Within the broad scope of ‘citizen science’, DTP genomics research is defined here as a specific form of ‘top-down’ research endeavour developed and overseen by institutions within the traditional human subjects research (...) context; in novel ways, it engages and recruits patients with defined diseases, consents them for medical information and biospecimens sharing, and stores and disseminates genomic information. Importantly, these projects simultaneously aim to empower participants in the research process while increasing sample size, particularly in rare disease states. Using CMI as a case study, this paper discusses how DTP genomics research raises new questions in the context of traditional human subjects research ethics, including issues surrounding participant selection, remote consent, privacy and return of results. It aims to demonstrate how current research ethics frameworks may be insufficient in this context, and that institutions, institutional review boards and investigators should be aware of these gaps and their role in ensuring the conduct of ethical, novel forms of research together with participants. Ultimately, a broader question is raised of whether the rhetoric of participatory genomics research advocates for an ethic of personal and social duty for contributing to the advancement of generalisable knowledge about health and disease. (shrink)

“Democratization” has recently become a popular trope in Western public discourses on medicine, where it refers to patient participation in the gathering and distribution of health-related data using various digital technologies, in order to improve healthcare technically and socially. We critically analyze the usage of the term from the perspective of the “politics of buzzwords.” Our claim is that the phrase works primarily to publicly justify the dramatic increase in the application of information and data technologies in healthcare and therefore (...) fosters the corresponding industry. As a buzzword, “democratizing healthcare” is characterized by vagueness, which is why it receives meaning only through a word collective—a group of words that provide it with a context and are often used together with it. We examine key terms associated with “democratization” in the healthcare discourse—participation, empowerment, and personalized medicine—and show that the buzzword receives rhetorical power through the ambiguous reference to these concepts. As a consequence, the idea of “democracy” becomes diluted into meaning merely “access to,” and “healthcare” is reduced to the notion of a preventive, nonacute, monitored form of medical care. (shrink)

mHealth devices and applications, with their wide accessibility and ease of use, have the potential to address persistent inequities in biomedical research participation. Yet, while mHealth technologies may facilitate more inclusive research participation, negative features of some unregulated use in research — misleading enrollment practices, the promotion of secondary mHealth applications, discriminatory profiling, and poorer quality feedback due to dependencies on biased data and algorithms — may threaten the trust and engagement of underrepresented individuals and communities. To maximize the participation (...) of currently disenfranchised groups, those involved in unregulated mHealth research must become aware of potential risks, adopt targeted education policies, audit algorithms for hidden biases, and engage citizen scientists and other community members to identify and forestall possible harms. (shrink)

New techniques for the genetic modification of organisms are creating new strategies for addressing persistent public health challenges. For example, the company Oxitec has conducted field trials internationally—and has attempted to conduct field trials in the United States—of a genetically modified mosquito that can be used to control dengue, Zika, and some other mosquito-borne diseases. In 2016, a report commissioned by the National Academies of Sciences, Engineering, and Medicine discussed the potential benefits and risks of another strategy, using gene drives. (...) Driving a desired genotype through a population of wild animals or insects could lead to irreversible genetic modification of an entire species. The NASEM report recommends community, stakeholder, and public engagement about potential uses of the technology, and it argues that the engagement should occur as research advances, well before gene drives are deployed. Yet what “engagement” means in practice is unclear. This article seeks clarity on this problem by offering a justification for community engagement and drawing out implications of this argument for the implementation and desired outcomes of community engagement. Community engagement is essential when it comes to research that would release genetically modified insects or animals into the environment. By contrast, obtaining informed consent from people who live near such a proposed field trial is neither necessary nor sufficient. Drawing on the epistemic and moral arguments for deliberative democracy, I propose two discrete mechanisms of community engagement: community advisory boards and deliberative forums, neither of which has been systematically incorporated into research governance. The proposed mechanisms would engender respect for persons who live near field trials, even when the results of deliberation override some individuals’ preferences. Community engagement foregrounds the community in our thinking about humans’ relationship to nature, and it implies that deciding to release genetically modified insects or animals into the wild ought to be a collective decision, not one made by product developers, policy-makers, private companies, research funders, or scientists alone. (shrink)

Citizen science models of public participation in scientific research represent a growing area of opportunity for health and biomedical research, as well as new impetus for more collaborative forms of engagement in large-scale research. However, this also surfaces a variety of ethical issues that both fall outside of and build upon the standard human subjects concerns in bioethics. This article provides background on citizen science, examples of current projects in the field, and discussion of established and emerging ethical issues for (...) citizen science in health and biomedical research. (shrink)

New technologies are transforming and reconfiguring the boundaries between patients, research participants and consumers, between research and clinical practice, and between public and private domains. From personalised medicine to big data and social media, these platforms facilitate new kinds of interactions, challenge longstanding understandings of privacy and consent, and raise fundamental questions about how the translational patient pathway should be organised.This editorial introduces the cross-journal article collection "Translation in healthcare: ethical, legal, and social implications", briefly outlining the genesis of the (...) collection in the 2015 Translation in healthcare conference in Oxford, UK and providing an introduction to the contemporary ethical challenges of translational research in biology and medicine accompanied by a summary of the papers included in this collection. (shrink)

Background Citizen science is increasingly prevalent in the biomedical sciences, including the field of human genomics. Genomic citizen science initiatives present new opportunities to engage individuals in scientific discovery, but they also are provoking new questions regarding who owns the outputs of the research, including intangible ideas and discoveries and tangible writings, tools, technologies, and products. The legal and ethical claims of participants to research outputs become stronger—and also more likely to conflict with those of institution-based researchers and other stakeholders—as (...) participants become more involved, quantitatively and qualitatively, in the research process. It is not yet known, however, how genomic citizen science initiatives are managing the interests of their participants in accessing and controlling research outputs in practice. To help fill this gap, we conducted an in-depth review of relevant policies and practices of U.S.-based genomic citizen science initiatives. Methods We queried the peer-reviewed literature and grey literature to identify 22 genomic citizen science initiatives that satisfied six inclusion criteria. A data collection form was used to capture initiative features, policies, and practices relevant to participants’ access to and control over research outputs. Results This analysis revealed that the genomic citizen science landscape is diverse and includes many initiatives that do not have institutional affiliations. Two trends that are in apparent tension were identified: commercialization and operationalization of a philosophy of openness. While most initiatives supported participants’ access to research outputs, including datasets and published findings, none supported participants’ control over results via intellectual property, licensing, or commercialization rights. However, several initiatives disclaimed their own rights to profit from outputs. Conclusions There are opportunities for citizen science initiatives to incorporate more features that support participants’ access to and control over research outputs, consistent with their specific objectives, operations, and technical capabilities. (shrink)

Background Citizen science and models for public participation in health research share normative ideals of participation, inclusion, and public and patient engagement. Academic researchers collaborate in research with members of the public involved in an issue, maximizing all involved assets, competencies, and knowledge. In citizen science new ethical issues arise, such as who decides, who participates, who is excluded, what it means to share power equally, or whose knowledge counts. This article aims to present an ethics framework that offers a (...) lens of understanding and heuristic guidelines to deal with ethical issues in citizen science. -/- Methods We conducted seven case studies between 2015 and 2021 to attune and validate the ethics framework for the context of citizen science. The cases related to studies with older adults, people with a psychiatric vulnerability, people dependent on community care, people who are unemployed or living in poverty or both, and young adults with respiratory disease. -/- Results Ethics in citizen science reaches beyond the ethical issues in traditional biomedical and health research. It entails more than following procedures about informed consent and privacy and submitting a proposal to a Medical Research Ethics Committee. Ethics in citizen science relates to everyday ethical issues during the study, including relational and moral complexities concerning collaboration, sharing power, and democratic decision-making. Dealing with these issues requires ethics work of researchers. This entails seeing ethically salient issues and reflecting on everyday ethical issues. Ethics work consists of seven features: framing work, role work, emotion work, identity work, reason work, relationship work, and performance work. All are relevant for researchers in citizen science. -/- Conclusions Ethical issues in citizen science often relate to power differentials, partnership, and collaboration between academics and non-academics. The ethics framework prepares researchers for the work needed in citizen science to act responsibly and offers a heuristic guide to reflect on ethics. Reflection on ethics is a pathway towards ethical citizen science, especially if researchers collaboratively reflect in partnership with non-academics who are subject to the moral issue. (shrink)

Slightly modified excerpt from the section 13.4 Zusammenfassung und Ausblick (translated into englisch): This chapter is based on an analysis of ethical debates on epigenetics and genome editing, debates, in which ethical arguments relating to future generations and justice play a central role. The analysis aims to contextualize new developments in genetic engineering, such as genome and epigenome editing, ethically. At the beginning, the assumptions of "genetic determinism," on which "genetic essentialism" is based, of "epigenetic determinism" as well as "genetic" (...) and "epigenetic exceptionalism" are analyzed and critically discussed. The remarks on the ethical discourse on epigenetics show that the notion of "epigenetic determinism" can sometimes be discerned not only in popular scientific discourse but also in ethical discourse. Ethical debates on epigenetics, however, have distanced themselves from this deterministic understanding. As a result, the focus in the ethical discourse on epigenetics shifts from responsibility for one's own health and that of subsequent generations to justice. What is meant here is justice, for example, in terms of access to healthy environmental conditions, regardless of whether these contribute to health with or without epigenetic agency. An analysis of the discourse on genome editing reveals that it is primarily germline interventions that are being ethically examined, with a concentration on the aspect of inheritance. The question is whether this is accompanied by an implicit "genetic determinism" or even a "genetic essentialism": the determinism could lie in the centrality of the aspect of heritability, since only genetic information is inherited. Does the aspect of heritability and genome modification play a more decisive role in debates on genome editing than the safety issue? Is the problem of embryos and their potential offspring not being able to consent to germline intervention given such a high priority because it is a genetic intervention? Under such a premise of "strong genetic determinism" supplemented by "epigenetic determinism," not only genome editing but also epigenome editing would be ethically relevant precisely because it too would have an influence on the genome. How this influence of genome editing and epigenome editing is ethically evaluated in each case therefore depends initially on whether the assumptions of "genetic" and "epigenetic determinism" are advocated. These assumptions are increasingly viewed critically in ethical discourse because they cannot be confirmed from a scientific perspective. In popular scientific debates in particular, however, they seem to persist, which ultimately also influences the public discussion. Since a broad public discussion is required especially on genome editing, a reflective approach to the various "-isms" analyzed in this chapter is central. DOI: 10.5771/9783748927242. (shrink)

As with other areas of the social world, academic research in the contemporary healthcare setting has undergone adaptation and change. For example, research methods are increasingly incorporating citizen participation in the research process, and there has been an increase in collaborative research that brings academic and industry partners together. There have been numerous positive outcomes associated with both of these growing methodological and collaborative processes; nonetheless, both bring with them ethical considerations that require careful thought and attention. This paper addresses (...) the ethical considerations that research teams must consider when using participatory methods and/or when working with industry and outlines a novel informed consent matrix designed to maintain the high ethical standard to which academic research in the healthcare arena has traditionally adhered. (shrink)

In its expansion to genomic, epidemiological and biomedical research, citizen science has been promoted as contributing to the democratisation of medical research and healthcare. At the same time, it has been criticised for reinforcing patterns of exclusion in health and biomedicine, and sometimes even creating new ones. Although citizen science has the potential to make biomedical research more inclusive, the benefits of current citizen science initiatives are not equally accessible for all people—in particular those who are resource-poor, located outside of (...) traditional networks of healthcare services, or members of minorities and marginalised groups. In view of growing public investments in participatory research endeavours, we argue that it should be considered more explicitly if, and how, citizen science could help make research more inclusive, contribute to the public good, and possibly even lead to better and more equitable healthcare. Reflecting on emerging ethical concerns for scientific conduct and best medical practice, we propose a set of relevant considerations for researchers, practitioners, bioethicists, funders and participants who seek to advance ethical practices of citizen-led health initiatives, and address profound differences in position, privilege and power in research. (shrink)

Much bioethical literature and policy guidances for big data analytics in biomedical research emphasize the importance of trust. It is essential that potential participants trust so they will allow their data to be used to further research. However, comparatively, little guidance is offered as to what trustworthy oversight mechanisms are, or how policy should support them, as data are collected, shared, and used. Generally, “trust” is not characterized well enough, or meaningfully enough, for the term to be systematically applied in (...) policy development. Yet points made in the philosophical literature on trust can help. They allow us, not only to better distinguish the different ways the term “trust” may be interpreted, but also to better determine how different approaches to trust can align with policy and governance—in what ways they may relate to key bioethical concepts and related laws, and in what ways they can help to balance individual and group interests in data sharing. This article draws from the philosophical literature on trust to identify a relationship among consent, trust, and justice. Specifically, parallels are drawn between “character-trustworthiness” and “natural justice,” a set of widely held legal safeguards intended to ensure decision-makers follow a pattern of procedural fairness which protects the rights of the individual and thereby maintains public confidence in the decision-making process. Relevance to traditional bioethical principles, established laws, and consent procedures are addressed throughout. In conclusion, policy actions are suggested. (shrink)

Engaging citizens in science projects has a number of epistemic benefits in terms of improving scientific out- comes and adjusting research to develop innovative solu- tions that are likelier to be used. Yet the emphasis on the epistemic benefits of citizen science projects and its risks, such as exploitation and a lack of benefit-sharing, a fail- ure to sufficiently inform participants of possible hazards and privacy issues, and unacknowledged authorship, which we can find in Wiggins and Wilbanks (2019), should not (...) shift to the background important justice- related interests regarding increasing participation, in particular as a prerequisite to providing the human right to participate in science (Timmermann 2014; Vayena and Tasioulas 2015). Beside the social interest in benefiting from scientific advancement—due to its major role in improving welfare—and keeping scientific practice within ethical boundaries, we need to acknowledge sci- entific participation to be very much in the interests of society. (shrink)