Ethical issues in human genomics research in developing countries Jantina de Vries1,2*, Susan J Bull1,2, Ogobara Doumbo3, Muntaser Ibrahim4, Odile Mercereau-Puijalon5, Dominic Kwiatkowski2,6 and Michael Parker1 Abstract Background: Genome-wide association studies (GWAS) provide a powerful means of identifying genetic variants that play a role in common diseases. Nyika A: Ethical and practical challenges surrounding genetic and genomic research in developing countries. Over twenty ethics committees in sixteen countries reviewed and approved the study, with review taking up to a year to complete at some partner sites (see Case 2). The Ethox Centre, Department of Public Health and Primary Care, University of Oxford, Old Road Campus, Headington, Oxford, OX3 7LF, UK, Jantina de Vries, Susan J Bull & Michael Parker, The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK, Jantina de Vries, Susan J Bull & Dominic Kwiatkowski, Malaria Research and Training Centre, Faculty of Medicine, Pharmacy and Odonto-Stomatology, University of Bamako, PO Box: 1805, Point G, Bamako, Mali, Institute for Endemic Diseases, University of Khartoum, Medical Campus, Qasser Street, PO Box 102, Sudan, Institut Pasteur, Unité d'Immunologie Moléculaire des Parasites, 28 Rue du Dr Roux, 75724, Paris, Cedex, 15, France, Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK, You can also search for this author in Many of these arise from concerns from researchers and ethics committees in the samples' country of origin that once samples have been exported, their control over subsequent use will be limited [47, 48]. 2008, 5 (9): e192-10.1371/journal.pmed.0050192. An increasing number of GWAS is taking place in lower income countries and there is a pressing need to identify the particular ethical challenges arising in such contexts. 2005, 27 (2): 1-5. It is important that such issues are appropriately addressed in such research. Genomics is a fast-moving field and new technological opportunities are developed monthly. 10.1080/09581590210153362. Ethical issues in human genomics research in developing countries. The major ethical and legal concern that should be discussed further revolves around fairness and privacy regarding the use of genetic data. There is certainly a need for more research in this area, and for the sharing of models of good practice. This distribution of research resources raises important issues about the use of archived samples, sample ownership and ethics review by multiple committees. care). Legal and Ethical Issues in Genomics: Informed Consent and Human Subject Research, Part 3 8:29. 10.1038/nature07631. These issues occur everywhere that human genes are patentable. a family member has implications for other family. 2002, 415 (6872): 673-679. 10.1038/nrg2760. BMC Med Ethics 12, 5 (2011). Daniels N: Just Health: Meeting Health Needs Fairly. 0000037316 00000 n In the context of MalariaGEN, this challenge was addressed in a training programme in which junior researchers from the participating research centres received intensive training in the analysis of genomic data [15]. Substantial global inequalities exist in health measures such as mortality, quality of life and disease incidence. These technical questions raise important ethical questions: When should a test be made available? • the volume of molecular genetic tests has increased by 73% ov Nat Rev Genet. Hoedemaekers R, Gordijn B, Hekster Y, Van Agt F: The complexities of ethical evaluation of genomics research. BMC Medical Ethics. Whilst genomics research presents important ethical challenges in the recruitment of participants regardless of where it is conducted, prospective participants in lower income countries are more likely to be poor and to have limited access to healthcare, education and other resources. MalariaGEN studies were conducted across a wide range of settings, spanning from referral hospitals in urban areas to traditional rural villages. Springer Nature. Miller LH, Baruch DI, Marsh K, Doumbo OK: The pathogenic basis of malaria. There are strong scientific and ethical arguments for sharing genomic data as the full scientific value of a GWA study may not be realised unless it is analysed by different methods and combined with other datasets. By Douglas S Diekema Articles, Peer-Reviewed Articles. 10.2307/3564479. Pálsson Gs, Rabinow P: The Icelandic genome debate. By using this website, you agree to our 2005, 19 (5-6): 537-549. MalariaGEN research is conducted in several countries in Africa, Asia and Oceania. Taken together, these factors mean that GWA studies such as MalariaGEN need to rely heavily on the use of archived samples. The complexities of resolving these issues were such that further empirical research was conducted at two MalariaGEN research sites, with the aim of investigating how best to obtain consent for genomic studies in low income countries. Moreover, the conditions and lack of infrastructure for treatment and research in lower income countries are often not conducive to the rapid collection of the very large numbers of samples required for genomic studies. However, little of this addresses the particular issues presented by the novel field of genomics research. Significant improvements in malaria treatment and prevention [54, 55] also mean that fewer samples are available for research on that disease. Critical Public Health. Genome-wide association studies (GWAS) provide a powerful means of identifying genetic variants that play a role in common diseases. 2008, 456 (7223): 732-737. 0000039876 00000 n Director, Carl R. Woese Institute for Genomic Biology; Swanlund Chair; Center for Advanced Study Professor of Entomology and Neuroscience . In this section, we explore the particular challenges presented by genomic research for community participation and the obtaining of valid consent. Each of these settings involved very different kinds of 'communities', all with their own decision-making strategies. Ethical Issues On The Global Scale. Developing World Bioethics. Research Group Institute of Society Ethics and the Life Sciences, Ethical and social issues in screening for genetic disease New Engl J Med 286: (1972) 1129-1132 27. The ethical issues relevant to GWA studies conducted on populations with lower average income and literacy levels also include issues around the inclusion and reuse of archived samples, export of samples, ethical review and capacity building. 10.1038/nrg2360. Genomics research raises a number of ethical challenges wherever it is carried out [6, 7]. 2009, 25 (11): 489-494. No Comments; 0; Douglas S Diekema. Taught By. In consultation with project members, the MalariaGEN ethics team developed template information about the project, including information about the methodology, preliminary data sharing principles and ethical issues. Many ethical issues are raised when genomics research is conducted on populations that are characterised by lower average income and literacy levels, such as the populations included in MalariaGEN. 0000038982 00000 n A key strategy of genomic studies, like the MalariaGEN study, is comparing genomic data between children that are ill with malaria (the cases) and healthy children (the controls). 0000036515 00000 n Specific Material Transfer Agreements (MTAs, Case 1) describing in detail the nature of the work to be carried out in foreign laboratories, as well as procedures for sample return or destruction at the end of the project, were instrumental in addressing some of these concerns. 0000007781 00000 n Some of the difficulties relating to the development and implementation of consent processes in lower income countries have been discussed in the literature [35–38]. 10.1038/ejhg.2008.198. But in our experience, these are important challenges in the context of international collaborative genomics research, and are going to require careful attention in the establishment and maintenance of successful research networks. Recent years have seen an explosion of scientific interest in the use of human genomic variation to study common complex diseases. All authors read and approved the manuscript before submission. The Benchmarks of Ethical Research. Fairhead J, Leach M, Small M: Where techno-science meets poverty: Medical research and the economy of blood in The Gambia, West Africa. Third, the network sought to develop software that allows the remote analysis of genomic data - meaning that MalariaGEN researchers anywhere in the world could analyse data without the need to invest in expensive in-house infrastructure for data analysis and storage. Bulletin of the World Health Organisation. Social Science & Medicine. This article is published under license to BioMed Central Ltd. Ethical, legal and social issues in nutrigenomic service delivery. J.J. Buckley, Genetics Now: Ethical Issues in Genetic Research (1978) University Press of America Washington DC 26. The MalariaGEN ethics team also provided assistance in interpreting and answering any queries that ethics committees raised in the review process, or in liaising between project management and ethics committees in addressing local concerns. Legal and Ethical Issues in Genomics: Informed Consent and Human Subject Research, Part 3 8:29. Only in one site did researchers decide to re-consent participants whose samples were collected many years ago, but this was mainly because the research design of the particular sub-study required taking additional samples. Despite the ethical importance of promoting the availability of genomic data to the scientific community [65], moves towards open access have also generated a significant literature concerning the compatibility of open access with important ethical principles and values [61]. Malaria is one of the leading causes of infant mortality in tropical countries, causing the deaths of nearly 1 million children under five in 2006 [19], as well as debilitating illness in a quarter of a billion people worldwide [19, 20]. Particularly challenging is the fact that many of the potential harms and benefits of genomics research relate to populations rather than to individuals [31]. MP and SB receive funding from a Wellcome Trust Enhancement Award in Biomedical Ethics (087285/Z/08/Z). Social Science & Medicine. Muula AS, Mfutso-Bengo JM: Responsibilities and obligations of using human research specimens transported across national boundaries. Ideally, investigators around the world should be in a position to analyse genomic data, and combine it where appropriate with clinical data held locally. PLoS Med. 10.1086/381709. Privacy For more than two decades, the National Human Genome Research Institute has (NHGRI) has been committed to driving the responsible use of genomics in society in order to advance knowledge and ensure that genomics benefits the health of all populations. After genotyping or sequencing is completed, GWA studies are strongly reliant on bioinformatics and computational technology and infrastructure, but not all these need to be present at the site where analysis is conducted. 2008, 67 (5): 734-747. J Med Ethics. 2005, 77: 171-190. The review of genomic studies is challenging: the science is difficult to comprehend [58], the studies are hypothesis-generating rather than hypothesis-testing, use very large sample numbers [59, 60], and generate very large amounts of data that can be analysed many times for different purposes. Identity and Governance in an Age of Genomics. 0000037183 00000 n 0000017648 00000 n 0000003095 00000 n 204 78 In addition, where genomics research takes place in the context of resource inequalities between research partners, the concentration of samples and resources in particular partner sites raises questions about fairness, ethical oversight, benefit sharing, and long-term development of capacity at all research sites. The range of ethical issues identified is extensive. IRB: Ethics and Human Research. JdV receives funding from a Wellcome Trust Biomedical Ethics Studentship (WT 083326/Z/07/Z). For MalariaGEN, almost all contributed samples were originally collected for research on malaria, but only a subset was collected with consent for genomic or genetic studies. Designing and implementing consent processes in the context of collaborative genomics research on populations characterised by lower average income and literacy levels presents many challenges. 10.1038/35052543. In addition, they received support to develop and submit conference abstracts, and a sub-group also received support to apply for PhD fellowships. Current ethical issues in genomics Richard gave a workshop on "Current ethical issues in genomics" to doctoral students at the Sanger Institute. Koenig BA, Soo-Jin Lee S, Richardson SS: Revisiting Race in a Genomic Age. Even today, only a small proportion of medical research focuses on the problems primarily affecting the world's poorest people [5]. In particular, the network should seek to support local analyses, for instance by making a data analyst available to all sites. 10.1126/science.1147699. %%EOF Robertson, Genetic alteration of embryos: The ethical issues A. Milunsky, G.J. 2004, 59 (12): 2547-2559. It typically consists of specifications of the following elements: the exact work to be done on the materials; the conditions of storage of the materials, including for instance details on building access and security; the people that are to work with the samples, typically the heads of research groups and all the members of their group; an agreement about data sharing and collaboration in analysis; procedures for agreeing on any other work that is not covered in the current MTA. Driven both by recognition of the need for locally relevant health research in lower income countries, and by awareness of the potential for exploitation in contexts of vulnerability and inequality [21], collaborative partnership and social value have been proposed as benchmarks against which the ethics of research in lower income countries should be measured [22, 23]. Découvrez et achetez Ethical Challenges in Genomics Research. A key challenge for genomics research conducted on populations with lower average income and literacy levels is how conditions can be created under which it is possible for researchers and research ethics committees to feel confident that samples and data will be used appropriately, and that the decision-making process for their use is sufficiently transparent. This can be a daunting task, especially where committees express different or conflicting points of view or place additional requirements on researchers [57], such as changes to a consent form that has already been approved by another ethics committee. IRB: Ethics and Human Research. The funders had no role in the decision to submit the article or in its preparation. 2007, 8 (8): 633-639. After extensive discussion within the Network, and consultation with parties outside it, it was concluded that it would be inappropriate to provide unrestricted public access to GWA data on individuals accompanied by specific phenotypic data. Keywords Wellcome Trust Sanger Institute (WTSI) 19th June 2019 . Capacity building would also allow scientists to enlarge their analyses to additional, locally-held phenotypes or to build on key genomic findings to develop further research projects. Tindana PO, Singh JA, Tracy CS, Upshur REG, Daar AS, Singer PA, Frohlich J, Lavery JV: Grand Challenges in Global Health: Community Engagement in Research in Developing Countries. 0000039120 00000 n Need AC, Goldstein DB: Next generation disparities in human genomics: concerns and remedies. Cardon LR, Bell JI: Association study designs for complex diseases. Social Science & Medicine. The complexity of community engagement exercises is widely acknowledged [24, 27, 32], and there may not be a one-size-fits-all solution. 2009, 10 (1): 13-10.1186/1472-6939-10-13. Despite the existence of a substantial and developing literature on the ethical issues arising in genomic studies, this literature has as yet not adequately addressed the specific ethical challenges presented by genomics research which takes place in the context of collaborative global health partnerships between high and low income countries. But such analyses will only take place if sufficient resources are available locally to support them. Following consultation, it was agreed that access to MalariaGEN datasets would be mediated via an independent data-access committee and that researchers would be granted access to genotyping data and to a limited amount of clinical and demographic data only after signing a legally-binding data-access agreement which placed restrictions on the acceptable uses to which MalariaGEN data can be put [14]. 10.1136/jme.2008.025189. 0 Yet even where this is the case, there remains a possibility that unwanted information about populations, communities or families will be revealed. It aims to foster a vibrant, engaged community, where issues faced by researchers can be examined and addressed collaboratively. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Terms and Conditions, February 11, 2011 - A Decade with the Human Genome Sequence: Charting a Course for Genomic Medicine. 0000038619 00000 n 10.1038/nrg2124. Along with its many benefits, genomic-based personalized medicine comes with legal and ethical considerations, including genetic discrimination and privacy of health information. 2009, 84 (2): 251-258. 0000036039 00000 n Over the past 5 years, GWAS have proven very valuable in identifying regions of the genome that affect resistance or susceptibility to a wide range of common diseases, although the method provides simply a starting point, and a range of other approaches will be required in future to fully characterise and understand the complex genetic determinants of human health and disease. For successful local analyses, it may not be necessary to store the data at all research sites; rather, a central data repository may be a solution. A prerequisite, however, is that such a repository can easily and securely be accessed at a distance, and that tools exist that allow for relevant data to be extracted and/or analysed when necessary. Policy Issues in Genomics Policy Issues in Genomics NHGRI is committed to driving the responsible use of genomics in society in order to advance knowledge and ensure that genomics benefits the health of all humans. Local Infrastructure: ABSTRACT. Mascalzoni D, Hicks A, Pramstaller P, Wjst M: Informed Consent in the Genomics Era. Our experience suggests that the ethical issues in genomics research can best be identified, analysed and addressed where ethics … 10.1136/jme.2005.012492. Social Science & Medicine. Kaye J, Heeney C, Hawkins N, de Vries J, Boddington P: Data sharing in genomics: re-shaping scientific practice. Kwiatkowski D: How Malaria has Affected the Human Genome and what Human Genetics can teach us about Malaria. Thus, genomic methodology may offer excellent opportunities for real and sustainable involvement from researchers in lower income countries (See Case 3). Journal of Health Services Research & Policy. Whereas this principle may be ethically laudable in promoting the utility of data, it is also based on an assumption that all researchers have equal access to the data, and comparable facilities and abilities to analyse it. In MalariaGEN, a number of attempts have been made to address these more exacting challenges, in addition to MTAs and research contracts. These persist despite increasing levels of overall wealth [3, 4]. Despite this growing emphasis on the importance of community engagement however, there is still relatively little published experience or evaluation of engagement in practice. These ought to be exploited to maximise the power of genomic studies; yet they may mean that the ethics approval is outdated. They underline the need for education and research on ethical aspects of new genomic technologies. 2004, 328 (7432): 121-122. 2008, 372 (9649): 1555-1562. 0000037620 00000 n Nature. 2006, 28 (3): 1-6. 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