Paula Boddington

Data sharing in genomics — re-shaping scientific practice

Funding bodies have recently introduced a requirement that data sharing must be a consideration of all funding applications in genomics. As with all new developments this condition has had an impact on scientific practice, particularly in the area of publishing and in the conduct of research. We discuss the challenges that must be addressed if the full benefits of data sharing, as envisaged by funders, are to be realized.

Ethical implications of the use of whole genome methods in medical research

The use of genome-wide association studies (GWAS) in medical research and the increased ability to share data give a new twist to some of the perennial ethical issues associated with genomic research. GWAS create particular challenges because they produce fine, detailed, genotype information at high resolution, and the results of more focused studies can potentially be used to determine genetic variation for a wide range of conditions and traits. The information from a GWA scan is derived from DNA that is a powerful personal identifier, and can provide information not just on the individual, but also on the individuals relatives, related groups, and populations. Furthermore, it creates large amounts of individual-specific digital information that is easy to share across international borders. This paper provides an overview of some of the key ethical issues around GWAS: consent, feedback of results, privacy, and the governance of research. Many of the questions that lie ahead of us in terms of the next generation sequencing methods will have been foreshadowed by GWAS and the debates around ethical and policy issues that these have created.

Assessing the privacy risks of data sharing in genomics.

The protection of identity of participants in medical research has traditionally been guaranteed by the maintenance of the confidentiality of health information through mechanisms such as only releasing data in an aggregated form or after identifying variables have been removed. This protection of privacy is regarded as a fundamental principle of research ethics, through which the support of research participants and the public is maintained. Whilst this traditional model was adopted for genetics and genomics research, and was generally considered broadly fit for purpose, we argue that this approach is increasingly untenable in genomics. Privacy risk assessments need to have regard to the whole data environment, not merely the quality of the dataset to be released in isolation. As sources of data proliferate, issues of privacy protection are increasingly problematic in relation to the release of genomic data. However, we conclude that, by paying careful attention to potential pitfalls, scientific funders and researchers can take an important part in attempts to safeguard the public and ensure the continuation of potentially important scientific research.

Theoretical and Practical Issues in the Definition of Health: Insights from Aboriginal Australia

This paper discusses attempts to define health within a public policy arena and practical and conceptual difficulties that arise. An Australian Aboriginal definition of health is examined. Although there are certain difficulties of translation, this definition is prominent in current Australian health policy and discourse about health. The definition can be seen as broadly holistic in comparison to other holistic definitions such as that of the World Health Organization. The nature of this holism and its grounding within the context of Aboriginal Australia is discussed. In particular, its implications for the phenomenon of medicalization, which may be associated with a holistic notion of health, is critically explored, as is the link of notions of health to culture and the question of the possibility of a universal definition of health. The question of to what extent a definition of health is inspirational or operational is also raised.

Adolescent Carrier Testing in Practice: The Impact of Legal Rulings and Problems with “Gillick Competence”

Testing for carrier status for various genetic conditions often takes place during adolescence or young adulthood. This paper aims to add to the discussion of when is the best time to test through an examination of how the law on medical treatment of children appears to be used in practice and how a careful examination of legal rulings might shed light upon best practice in this area. Our focus is on the Gillick ruling (Gillick v West Norfolk and Wisbech Area Health Authority 1986), which dealt with consent and confidentiality with respect to the provision of contraceptive advice to under 16-year-olds, but which has become a general benchmark for consent to medical treatment within UK law. In addition, we draw upon data from a qualitative research study which indicates potential problems with certain practices in respect of the influence of the Gillick ruling on carrier testing procedures. We present evidence that in at least some instances, adolescents have reduced capacity to grasp fully the implications of carrier test results. In the light of our findings we make recommendations for practice concerning the testing of children and young persons.

Consent forms in genomics: the difference between law and practice.

Consent forms are the principal method for obtaining informed consent from biomedical research participants. The significance of these forms is increasing as more secondary research is undertaken on existing research samples and information, and samples are deposited in biobanks accessible to many researchers. We reviewed a selection of consent forms used in European Genome-Wide Association Studies (GWAS) and identified four common elements that were found in every consent form. Our analysis showed that only two of the four most commonly found elements in our sample of informed consent forms were required in UK law. This raises questions about what should be put in informed consent forms for research participants. These findings could be beneficial for the formulation of participant information and consent documentation in the future studies.

Ethical Challenges in Genomics Research

This chapter introduces the aims of the book. The book’s origins lie in a project examining ethical issues in genomics research, as part of a consortium researching into cardiovascular disease. The challenges of working as an “inhouse” ethicist on such a project are discussed, as are the importance of debate and dialogue in ethics as well as inter-disciplinary communication. The book aims to help foster such dialogue and to show how philosophical analysis and debate in ethics can help to address emerging ethical challenges. Some of the different ways in which philosophy can contribute to practical ethical issues are illustrated. These include close attention to argument; to the use of key concepts; and to the use of the examples used to advance arguments. The interrelation of abstract theory and experience of concrete situations is also discussed. 1.1 The Role of the “In-house” Ethicist and How This Book Came About I am a philosopher. In October 2007, I took up a post in the Medical Sciences Division of Oxford University and began work on the “ethics” branch of a scientific research project investigating genetic factors underlying cardiovascular disease. The Procardis consortium includes members from various European countries, including the UK, Italy, Sweden, Germany, and France, and is funded by the European Union. But why is research that aims to help humanity subjected to ethical inquiry? Why do they want someone to “do” ethics then? What was this job exactly? When I started my post, I did what many other people do in such a position; I read through the large black file about the project that was handed to me, looked back over the job description, and started to wonder what exactly I was meant to be doing. Writing this at the end of my 3-year post, I am still thinking about what exactly such a post of being an “in-house” ethicist required. There are also various tensions inherent in such a post, tensions which could easily give rise to a great deal P. Boddington, Ethical Challenges in Genomics Research, DOI 10.1007/978-3-642-23699-0_1, # Springer-Verlag Berlin Heidelberg 2012 1 of difficulty. This book is a product of thinking through these difficulties, and of my efforts to produce something that might contribute to thinking through the complex issues that I have encountered, issues of both methodology and substance. One of the features of my particular position in the project was that it was, quite frankly, rather loosely demarcated. Some colleagues who worked in other broadly similar situations have had a more defined role as a member of a team. For example, these colleagues have been involved with obtaining approval for research projects from the relevant research ethics committees; with drafting policy for the conduct of a research project, taking into account particular ethical issues; with looking at how best to obtain adequately informed consent to research from people in difficult circumstances, such as when their child is ill, across language barriers, or where research recruits have little or no prior knowledge of the scientific study of genetics. Some of these colleagues were frequently called over to the scientists’ building to help out on one thing or another. In contrast, I had no such concrete role. The subjects in the Procardis project were all recruited long before I joined; when they joined, they had read and signed consent forms, and ethics approval for the project and for the recruitment of participants had of course been given. This in fact gave rise to one of the tensions of such a post. Suppose I looked at what had already been done and found it ethically problematic in some respect? In any case, much of this was someone else’s job to check – the job of the various research ethics committees that approved the project and the collection of data in several European countries. In any case, I felt some discomfort at the idea that my role was to tell the scientists that they might be doing something wrong. My job was surely not to act as a kind of soft police force. Besides which my only tools were words: I had no regulatory or institutional power. It also filled me with great discomfort to think that the role of an “in-house” ethics person might be, even partially, to act as “window dressing”. There is now a great deal of emphasis on ethics in genetics, for reasons I’ll explain in detail in the next chapter. The simple fact then is that doing ethics has come to “look good”. Of course, many things which “look good” are good, but not all, and pressures to look good can lead to an unwarranted concern with appearances. Moreover, I consider that the goal-oriented nature of much research funding carries with it a danger that doing good work can be reduced to meeting targets and scoring highly enough in the right sort of categories. The very thought that the “ethics” person might be symbolised as a kind of talisman to indicate lip service to ethical issues was a spur to make sure that I thought carefully about the nature of my role and how to be most effective. An ethics post attached to a particular consortium gave me a delicate balancing act. On the one hand, I was part of this team: to that extent then, I shared their goals and hoped for their scientific successes; as I got to know the other team members, I liked them. I wasn’t there to “judge” them. But I should surely, as someone concerned with ethical issues of the research, also remain independent, and retain the capacity and the freedom to offer critiques or challenges if I thought it necessary. In many ways, the problem of how to tread this delicate balance between involvement and detachment is one well known from other areas. For instance, the 2 1 The “Ethics Job”

Planning for translational research in genomics.

Translation of research findings into clinical practice is an important aspect of medical progress. Even for the early stages of genomics, research aiming to deepen understandings of underlying mechanisms of disease, questions about the ways in which such research ultimately can be useful in medical treatment and public health are of key importance. Whilst some research data may not apparently lend themselves to immediate clinical benefit, being aware of the issues surrounding translation at an early stage can enhance the delivery of the research to the clinic if a medical application is later found. When simple steps are taken during initial project planning, the pathways towards the translation of genomic research findings can be managed to optimize long-term benefits to health. This piece discusses the key areas of collaboration agreements, distribution of revenues and recruitment and sample collection that are increasingly important to successful translational research in genomics.

Data Sharing in Genomics

This chapter looks at how data sharing practices in genetics give rise to ethical issues for both the researcher and the participant. Like some of the previous discussion in the book, it demonstrates how an understanding of the social practice of science is needed to appreciate and analyse fully the ethical issues that arise. Questions considered include the acknowledgement of contributions to scientific work and publications, which requires a discussion of the career structure of researchers. Discussion of ethical issues arising from data sharing also involves analysis of notions of ownership of information, public and private work in science, intellectual property, and Enlightenment values of science and scientific knowledge. Also discussed are questions of privacy and confidentiality of data; consent to data sharing; and the use of archived data.

Big Data, Small Talk: Lessons from the Ethical Practices of Interpersonal Communication for the Management of Biomedical Big Data

Biomedical big data raises various ethical issues, many of which concern tensions between the public sharing of information and the private control of personal information, and the status of the individual data subject. Close attention to the intersection between issues in epistemology and in ethics is needed, and this chapter outlines divergent models of the transmission of information which give rise to different understandings of the ethics of communication. This chapter also draws on work in social sciences which examines a parallel area where ethically similar issues arise, the communication of personal and familial medical and genetic information. Analysis of a body of research draws attention to the situated and personal communication of knowledge, explaining how this generates ethical considerations which may clash with impersonal or system-driven understandings of data, and showing how individuals might display alternative ways of understanding their ethical responsibilities. Important ethical questions arise such as how, whom, and when to tell. Channels of communication may guide questions of ethical responsibility. These considerations emphasise the importance of context and are used to extend Nissenbaum’s notions of contextual integrity. The chapter also examines the question of the disempowerment of the data subject, and suggests that the changing patterns in the dissemination of biomedical data may provide individuals and groups with ways of acting which may help to redress fears of the disempowered data subject.