Ethical Data Release in Genome-Wide Association Studies in Developing Countries

et al. (2009) Ethical Data Release in Genome- Wide Association Studies in Developing Countries. PLoS Med 6(11): e1000143. doi:10.1371/journal.pmed.1000143 Ethical Data Release in Genome-Wide Association Studies in Developing Countries Michael Parker 0 1 2 Susan J. Bull 0 1 2 Jantina de Vries 0 1 2 Tsiri Agbenyega 0 1 2 Ogobara K. Doumbo 0 1 2 Dominic P. Kwiatkowski 0 1 2 The Challenge 0 1 2 0 Abbreviations: GWA, genome-wide association; IDAC , independent data-access committee 1 Funding: MalariaGEN's primary funding is from the Wellcome Trust (077383/Z/05/Z) and the Bill & Melinda Gates Foundation via the Foundation for the US National Institutes of Health (566) as part of the Grand Challenges in Global Health initiative. Additional support is provided by Wellcome Trust Sanger Institute core funding and the Medical Research Council (G0600230). MP and SB receive funding from a Wellcome Trust Enhancement Award in Biomedical Ethics (087285/Z/08/Z). MP is a member of the Wellcome Trust Case Control Consortium Data-access Committee. The funders had no role in the decision to submit the article or in its preparation 2 1 Ethox Centre, University of Oxford , Oxford , United Kingdom , 2 Wellcome Trust Centre for Human Genetics , Oxford , United Kingdom , 3 Kwame Nkrumah University of Science and Technology , Kumasi , Ghana , 4 Malaria Research and Training Centre, University of Bamako, Bamako, Mali, 5 Wellcome Trust Sanger Institute , Hinxton, Cambridge , United Kingdom - Developing countries carry a disproportionate share of the global disease burden [1]. One main obstacle to developing better tools for disease preventionsuch as vaccines against malaria, tuberculosis, and HIVis our limited understanding of the underlying mechanisms of disease and protective immunity. Genome-wide association (GWA) studies provide a powerful way of getting at this problem by identifying genetic variants determining resistance or susceptibility to common diseases [24]. GWA studies to date have mostly focused on populations of rich countries, and there is a case for greater scientific investment in GWA studies relevant to the needs of developing countries. GWA studies in developing countries raise a range of ethical issues. One aspect is the need to protect the rights of the individuals and communities who are the subjects of the research, e.g., by developing appropriate processes for valid consent [5]. Another aspect is to ensure that researchers and institutions in developing countries, who generate samples and data for GWA studies, are not put at a scientific disadvantage when they participate in the large collaborative networks that are needed to undertake this type of research [6]. We do not attempt to deal with here the full spectrum of ethical issues raised by GWA studies in developing countries, but focus specifically on the problem of releasing data to the broader scientific community. There are strong scientific arguments for data release, as the full scientific value of a GWA study may not be realised unless it is analysed by different methods and The Policy Forum allows health policy makers around the world to discuss challenges and opportunities for improving health care in their societies. combined with other datasets. For example, meta-analyses of GWA studies in different study populations have yielded many important discoveries not immediately apparent from individual studies. Several consortia undertaking large-scale GWA studies, such as the Wellcome Trust Case Control Consortium and the Genetic Association Information Network, have therefore adopted policies for releasing anonymised GWA data with appropriate regulatory procedures [4,7]. The question we address here is how to develop policies and procedures for data release appropriate for GWA studies in developing countries. Discussion about the role of data sharing in science is not new [8,9]. Within the context of genomics, open access models of data release, which have their origins in the Bermuda Principles and the Fort Lauderdale agreement, have become common, and most large funding bodies now require the depositing of data in a centralised repository [1012]. These moves reflect a belief that open access promotes the scientific use and social value of data. While arguments for open access emphasise the ethical importance of promoting the availability of the results of genomic research to the scientific community and its potential to generate important public benefits [1315], moves towards open access have also generated a significant literature concerning the compatibility of open access in genomic research with important ethical principles and values [15]. The range of ethical issues identified is extensive. It includes concerns about: privacy [16,17], whether anonymity can be guaranteed [15,1719], security [17], the implications of collecting and storing vast amounts of data and about its uncertain future use [17], the implications of data release for populations [16,18,20] and for family members of participants [16,17], the need to strike a proper balance between research and protection [15], the development of appropriate governance mechanisms [14,15], the implications for trust, consent, and autonomy [16,19,21,22], commercialisation [23], and the ethical importance of the sustainability of databases [24]. Despite this theoretical literature, there are no empirically grounded accounts of the ethical challenges in the development of data release policies in GWA studies in developing countries. Here we describe the development of a GWA data-release policy for the Malaria Genomic Epidemiology Network (MalariaGEN), a partnership of malaria researchers in over 20 countries supported by the Grand Challenges in Global Health initiative [25]. MalariaGEN investigators are using a range of genetic epidemiological approaches to investigate mechanisms of protective immunity against malaria, as part of the global effort to develop an effective malaria vaccine. MalariaGEN has sought to establish fair rules for sharing samples and data in large-scale research collaborations, a key principle being that contributing investigators retain ownership of the samples that they contribute to consortial projects [25]. Thus the datasets generated by individual investigators are not governed by the datarelease policy described here, apart from specific items of phenotypic information that have been contributed by the investigators to consortial projects for the purpose of GWA analysis. Developing Policies and Mechanisms to Govern Release of GWA Data Although MalariaGEN was founded with open access in mind [6], it was clear that the development of an effective, appropriate approach to GWA data release required widespread consultation across the network and with external stakeholders (see Figure 1). In what follows, we outline some of the key issues arising during this process and how these were addressed. From Open Access to Managed Op (...truncated)