These translational transformations are reconfiguring traditional boundaries: between patient, research participant and consumer; lay people and experts; medical research and clinical practice; and between the public and private domains. New configurations of technologies, service providers and users challenge existing regulatory categories, present novel opportunities and risks, and raise important ethical questions. Increased sharing of personal medical and biological information and increasingly international movements of data raise issues of privacy and security, but also challenge the adequacy of traditional ethical concepts like consent, and, indeed, justice. Many large scale data gathering operations rely on a broad consent to use and reuse data for multiple purposes [18, 19]. This concept challenges established understandings of what informed consent is intended to mean, and raises the possibility that the protections it is supposed to offer may be undermined. Similarly, global, networked flows of data are also redefining the meaning of other traditional protections of human subjects’ research such as the right to withdraw from participation [20]. What are the implications of these changes for public trust and accountability in research? What governance options are afforded, and which capabilities are required, by the digital and algorithmic processing of data on a global scale? And is there a danger that the increasing focus on individual biological and lifestyle causes of disease might overshadow efforts to address environmental and systemic determinants of illness [21]?
As translational endeavours foster new kinds of engagement between doctors, scientists, patients, citizens, states and companies it is important to consider how this affects what it means to be engaged in research. Does translational research carry new normative requirements? Is there a moral duty to participate, to give up and give away personal information for a greater good? What ethical challenges are involved as public and patient engagement processes are applied outside European and North American contexts? And what do these changes mean for scientists, regulators, research ethics committee/institutional review board members, healthcare professionals and academics? It is particularly relevant to consider the impact of these changes on populations who are already marginalised or under-represented in medical research [22, 23]. This applies not only to different communities within developed countries, but to the wider flow of data, materials, technology and medical knowledge between the global North and South [24, 25]. Do translational initiatives risk exacerbating existing inequalities and what means of redress might be available? Moreover, are some forms of contribution, such as participation in data sharing networks, welcomed while other approaches such as DIY Biology are regarded with suspicion or even hostility [26]?
The papers in this thematic collection take up the challenge of developing an ethical analysis of translational research. The importance of genomics as a key site of translational endeavours is reflected in the organisation of this thematic collection, which is shared across BMC Medical Ethics and BMC Medical Genomics. Several articles focus on the emerging challenges of biobanking and big data through the linkage of bio-specimens and medical and non-medical data. Providing a comparative international perspective, Chalmers et al. offer a review of biobanking governance through the lens of the diverse regulatory contexts of seven countries. The authors chart four waves of biobanking management and policy that have resulted in response to the challenges of ensuring informed consent, standardization, sustainability and public trust [27]. Addressing similar concerns by drawing attention to the lack of regulatory oversight of unauthorized secondary uses of health data and samples, O’Doherty et al. argue that without building ethical oversight in tandem with the proliferation of health data collections intended for research, unintended negative consequences are likely to result [28].
Careful consideration of the ethical implications of big data for clinical decision-making is addressed by Fischer et al., who identify the epistemological questions that ‘systems medicine’ and the use of bioinformatics tools and algorithms raise for patient care [29]. This theme of unintended consequences is taken up in by Newson et al. in their call for greater engagement with the normative questions of ambiguous genomic information. Using examples of clinical case scenarios, the authors argue for a reframing of uncertain test results and propose that healthcare providers directly engage clinical ambiguity as inherent to genomic medicine [30]. There is also a potential conflict between data-sharing and the concern to prevent data being used to promote bioterrorism, as Bezuidenhout and Morrison argue [31]. ‘Dual use’ policies address the latter need, but they are rarely discussed in comparison with the ideal of open access, as this paper does.
Several authors tackle the theme of participation in translational research. Greater public and patient involvement in research, as providers of personal genetic, health and lifestyle information, is deeply embedded in many models of precision or personalised medicine. However, as Nicholls and colleagues note, there are also compelling normative, political and practical reasons to engage with various publics about how novel medical technologies and services should be delivered. Blasimme and Vayena develop the conceptual aspects of this idea, exploring the implications of precision medicine initiatives for current understandings of autonomy, and arguing that greater participation may also require offering more meaningful choices to participants in medical research [32]. New modes of engagement are also in evidence; Murtagh et al. describe the results of an Employing COnceptual schema for policy and Translational Engagement in Research (Écouter) session which was run with the participants during the Translation in Healthcare conference itself [33]. The Écouter model involves a digital mind-mapping process in which participants offer their own responses to an initial question and a set of ‘seeded’ prompts in the form of texts, images, videos and so forth. The system is designed to be adaptable to face to face or entirely online settings. The latter are especially pertinent given that so many translational endeavours from genomic data-sharing to wearable smart devices involve digital data collection and dissemination.
Early-career researchers in the ELSI field face particular problems of isolation from disciplinary support structures, as the article by Bell et al. reports [34], based on a workshop for ELSI researchers at the Translation in Medicine conference. This workshop discussed the potential opportunity to use web 2.0 technologies, such as the ELSI 2.0 workspace currently provided through the Global Health network [35], to transform academic support structures and address some of the challenges faced by ELSI ECRs, by helping to facilitate mentoring and support, access to resources and new accreditation metrics. At the same time, it is worth remembering that a mandate for digital engagement cannot always be taken for granted. The study by Coathup and colleagues describes the findings of a survey carried out with Myotonic Dystrophy patients in Japan to gauge the acceptability of using digital methods to foster greater communication with healthcare professionals [36]. A majority of study participants reported an interest in receiving more up-to-date information about the latest medical developments relating to their condition, but also wanted to ensure the confidentiality and security of their communications and to be able to remain in control of the interactive process.
The remaining papers in the collection explore the views, attitudes and concerns of different groups involved in the translational process. Bertier, Hétu and Joly [37] review the literature on whole exome sequencing to identify the key concerns for clinicians and researchers. Woolley et al. [38] critically assess the frequently invoked rhetoric of ‘citizen science’ and ‘participant-led research’, comparing US and UK case studies and analysing the role of commercial companies in encouraging a participatory strategy. Budin-Ljøsne and Harris report on European Patient Interest Organisations’ perceptions of personalised medicine [39], and Nicholls et al. discuss how Canadians regarded the prospect of incorporating genomic risk predictions for cancer and childhood diabetes into routine clinical practice. [40] These studies illustrate how hopes and concerns vary considerably across disease groups, technologies, and the envisioned roles of end users (patients, clinicians, and those mediating between groups). While this highlights the need for inclusive, deliberative models of governance that incorporate the needs of different stakeholders in the translational process, these studies also show that there are some common areas of concern (albeit often expressed in different terms) such as the likely cost of new personalised treatments and how this might affect access.
Taken together, the papers in this thematic collection represent a concerted attempt to open up the ideas, practices and technologies of biomedical translation to ethical scrutiny. We do not claim that this is a comprehensive analysis; a range of aspects of translation have been identified and evaluated, but many other facets await further consideration. If this collection has a further insight to offer beyond the theoretical and empirical work presented in individual papers, it is, hopefully, to illustrate the value of recognising translation as an ethically significant phenomenon in itself, as something that transcends particular fields, cases and issues even as it transforms them, and that has wide-ranging implications for the responsible practice of the life sciences.
A small number of additional papers remain under review for this thematic collection and may be appended to the online Translation in healthcare page in future.
