Introduction:
1. Genomic and Clinical Data Research Possibilities Medical research using genomic and other health-related data offers great potential in developing understanding of human biology, health and disease, and in the development of therapies to alleviate suffering. A great deal of research is already undertaken in different institutions across the world. This work tends to be in stand-alone projects, perhaps with networks of institutions contributing to the work. These projects create (genomic) data sets, often linked to identifiable, personal medical data of the participants. The participants themselves can be either drawn from the general population or can be from patient groups. Increased computing power is beginning to offer a new approach to developing studies using genomic and other medical data (Ward et al., 2013). Biobanks gather data from individuals to form repositories from which cohorts for particular studies can be drawn. These biobanks can be created formally by recruiting participants specifically for the particular biobank. Alternatively, they can be created more informally, where data gathered for one specific proposal is retained for new projects, perhaps linked to other data sets held by members of the research network, or by other research collaborators. There is an enormous potential in the linking of existing data sets. The connection of data allows, particularly in relation to rare diseases, the possibility of building statistically significant cohorts more quickly than traditional recruiting methods; processing larger numbers of potential participants produces a more robust sample; it also gives the opportunity to interrogate the data in a new way – allowing researchers to ask why it is that individuals with a particular genetic profile do not become ill rather than focussing on those who have a profile and have become ill. In order to achieve these goals (currently), large computing power and resources are required. ‘Cloud’ computing technologies offer possibilities in providing the facilities needed to meet this power and resource need, (Stein, 2010). However, these are not developments without their own issues. There is interest in the provision of those technologies from big commercial players in the cloud computing market, and this is a further development in the range of concerns that some individuals express in relation to the use and potential abuse of these sensitive personal data. There are well established concerns about how the use or misuse of these data can affect insurance and employment, but it may be that cloud computing and other emerging technologies introduce other new economic and social-discrimination concerns in relation to medical research and other uses of genetic (and other medical) data (Seddon & Currie, 2013). 2. The regulatory/governance problem What is not clear in these developments is how they can be regulated, whether by way of law, policy, guideline or some other regulatory mechanism. The potential outlined above is an international potential; linkages and clouds work at a trans-jurisdictional level, and the networks of researchers are international. The traditional regulatory framework depends upon local approval for (largely) local, stand-alone projects where the participants are recruited after the research purposes and protocol have been defined. This framework largely rests on securing the informed consent of the participants relating to the specific indicated purposes before the research starts. The new approach reverses this. Large numbers of potential participants are gathered, often with a broad consent to participate in future, unforeseeable research, and then over time various researchers approach the biobank for cohorts for specific pieces of research. This global-local and horizontal-vertical tension produces a two-fold governance problem. First, traditional platforms of domestic (and European) law do not have a sufficient international authority to bind the new methodologies, and in particular traditional research ethics committees (institutional review boards) do not have effective interaction mechanisms to allow a streamlined approval process for genomics-focussed, data-driven projects (Dove et al., 2013). Second, the substance of the law – a determination of what constitutes sufficient and effective safeguards for participants in relation to these new approaches – is highly contested (for example, in a continuing discussion about the sufficiency of informed consent mechanisms, and the legitimacy of appeals to the ‘public interest’ in determining the use of data), but again there are no obvious mechanisms to resolve the contests with binding authority. Thus, despite increasing initiatives for maximising benefits of genomic and clinical data linkage, significant challenges remain, including a culture of caution around data sharing and linkage, failure to make use of flexibilities within the law, and failure to incorporate intelligent iterative design (Sethi & Laurie, 2014). 3. The purpose of the workshop The proposed workshop will focus on these regulatory and governance issues with a view to resolving this two-fold governance problem. The participants are members of a small working group in (the “Regulatory and Ethics Working Group”, or REWG) of the Global Alliance for Genomics and Health (GA4GH). The GA4GH (www.genomicsandhealth.org) was created in 2012 as an international umbrella organization to develop and promulgate harmonised approaches (both technical and regulatory) for the effective and responsible sharing of genomic and clinical data across jurisdictions. Currently, it has over 180 partners in more than 25 countries. The GA4GH seeks to work collaboratively with its membership to play an active role in catalysing data-sharing among members to advance science and improve human health. At the same time, it seeks to work together with its members to promote the highest standards for ethics and enable participant choice to responsibly and securely share their genomic and clinical data in order to meaningfully contribute to the advancement of human health. The REWG is focussing on regulatory and governance issues for the Alliance, aiming to produce and test governance tools that can be accepted at an international level as sufficient to safeguard the interests of participants and other stakeholders. Dove ES, Knoppers BM, Zawati MH. Towards an ethics safe harbor for global biomedical research. Journal of Law and the Biosciences 2014; 1: 3–51. Seddon JJM, Currie WL. Cloud computing and trans-border health data: unpacking U.S. and EU healthcare regulation and compliance. Health Policy and Technology 2013; 2: 229–241. Sethi N, Laurie GT. Delivering proportionate governance in the era of eHealth: Making linkage and privacy work together. Medical Law International 2013; 13: 168–204. Stein LD. The case for cloud computing in genome informatics. Genome Biol 2010; 11: 207. Ward RM, Schmieder R, Highnam G, Mittelman D. Big data challenges and opportunities in high-throughput sequencing. Syst. Biomed 2013; 1: 29–34.