Elsevier

Acta Tropica

Volume 112, Supplement 1, November 2009, Pages S21-S31
Acta Tropica

Ethical and practical challenges surrounding genetic and genomic research in developing countries

https://doi.org/10.1016/j.actatropica.2009.07.034Get rights and content

Abstract

The nature of some potential benefits and risks associated with genetic research is different from the types of potential benefits and risks associated with other types of health research such as clinical trials and biomedical research involving humans. Whereas most potential risks associated with biomedical research or clinical trials are mainly biological in nature, potential risks associated with genetic research are mainly of socioeconomic nature. Although the peculiarity of some of the aspects of genetic research and the complexity of the science involved are acknowledged, the extent to which these characteristics hinder firstly disclosure of information to participants and their communities and secondly comprehension of the disclosed information is a practical challenge that tends to be exaggerated in some cases.

In this article, a brief overview of the various types of genetic research will be given in order to set the scene for some ethical and practical issues surrounding the research in developing countries that will be discussed subsequently. Case studies that illustrate some of the ethical and practical issues flagged will be given, followed by suggestions on possible ways of tackling some of the challenges in developing country settings. Nevertheless, genetic and genomic research could go a long way in providing knowledge that could be useful in the development of drugs and vaccines for many diseases affecting the developing countries.

Introduction

For people who are not specialized in such fields as Genetics, Molecular Biology, Biochemistry and others it may be helpful to first understand what a gene is in order to understand what genetic or genomic research is all about. Examples of living things around us and how they remain existent could help to explain the term gene and genetic information. A mango tree bears mango fruits, and if the seed contained in the mango fruit gets the right conditions such as water and nutrients it germinates and grows to become a mango tree. It does not become an orange tree, or any other type of tree for that matter, because the seed contains instructions that ensure that it grows into a mango tree. Such information in the seed is contained in cells in structures called ‘genes’ and the information is referred to as ‘genetic information’. A gene is basically a part of a chemical molecule called Deoxyribonucleic Acid (DNA) that contains some complete set of genetic instructions for the synthesis of a particular functional protein.

Genetic research is generally aimed at understanding the way information contained in biological cells affect the functioning of organisms and the way the organisms interact with the environment. This includes developmental processes, disease pathogenesis, response to medicinal products and many more. Although the functional units of the cellular genetic material are mainly genes, other parts of the genetic material may affect the way the genes work and they may also be the focus of genetic studies. Examples include such sequences as promoters that are critical for the functioning of genes. Indeed it should be acknowledged that overall, there are various potential benefits of genetic research.

Ethical issues surrounding genetic research have been shaped to a large extent by the impact of technological development in that field and the tendency of researchers and funders to engage in collaborative research projects which inevitably cut across geographical, political, socioeconomic and cultural boundaries. In the past few decades there has been an increase in genetic epidemiological research focusing on Mendelian, single gene disorders such as cystic fibrosis, haemophilia, Huntington's disease, myotic dystrophy and neurofibromatosis as well as on complex diseases. Genetic epidemiological studies may be based on data of diseases or traits derived from families, ethnic groups, communities or populations.

The advent of new high throughput genotyping technology in general and the Human Genome Project in particular has made genome-wide analyses feasible, thus facilitating genomic research on multi-gene, multi-factorial diseases such as cancer, malaria, diabetes mellitus, heart disease, stroke, hypertension, schizophrenia, depression, congenital abnormalities and asthma. These complex diseases are influenced by both genes and some environmental factors. Genetic epidemiological research aimed at investigating causal pathways for diseases that result from interactions between genetic and environmental factors usually involves use of DNA samples from large populations and may generate databases with genetic, phenotypic, clinical and/or sociodemographic data. Although people who participate in genetic research might give informed consent in their own individual capacities, their participation and or the data generated from such research could affect their families, communities, ethnic groups, and or populations in one way or another. Thus the potential risks and benefits of genetic research could therefore be to do more with families, communities, ethnic groups or populations than individual sample donors.

In the case of international collaborative genetic research projects focusing on diseases that are prevalent in developing countries, there is usually South-to-North shipment of samples to high-tech laboratories in developed countries. DNA samples for genetic research are either collected prospectively or the DNA is extracted from stored samples. However, the use of stored human samples is a challenge that has sparked debate globally (Hansson et al., 2006, Wendler and Emanuel, 2002). The stored samples could have accumulated from routine diagnostic and treatment activities of health institutions or from health research conducted years ago. In light of the ethical, legal and socioeconomic issues surrounding genetic research and the use of stored samples, most developed countries have come up with legislative and regulatory frameworks aimed at addressing the pertinent issues (NIH, 1993, Data protection Act, 1998, CCNE, 2003, GINA, 2008). Although in some international collaborative research projects focusing on diseases of the poor the bulk of samples for genetic research, either newly collected or from archives, originates from developing countries, development of the necessary frameworks for genetic research and use of archived samples is still in the infancy stages in most developing countries.

Section snippets

Genetic and genomic research

In general, any research involving studying of gene(s) is referred to as ‘genetic research’. However, it is important to differentiate between ‘genetic research’ and ‘genomic research’ because the ethical issues surrounding the two types of research are not necessarily the same. Genetic research focuses on certain genes, whereas genomic research focuses on the whole set of genes, the genome. For instance, a study may look at some aspect of the gene that causes Sickle Cell Disease, in which case

Other related types of research

Although the volume of some types of research related to genetic or genomic research may not be relatively huge in the developing world, one major concern is the lack of appropriate guidelines or laws that clarify which of these related types of research, which generally tend to be controversial, are permissible and which types are prohibited out rightly. One of the major criticisms is that these types of research tamper with the moral integrity of humanity. Some specialized types of research

Possible sources of samples for genetic or genomic research

Human samples include a range of human biological materials from sub-cellular molecules like DNA and cytoplasmic organelles (e.g. mitochondria, enzymes), to cells and tissues (such as blood, muscle and skin), gametes (sperms and ova), embryos, fetuses, organs (such as heart, kidney, liver, bladder, placenta), secretions (such as saliva) and waste material (such as urine, feces, hair, nail clippings and sweat). DNA samples can be extracted from these materials for research purposes, and lack of

Some ways of handling samples for research

The way samples are handled could have ethical implications. Some ways of handling samples could compromise the privacy and confidentiality of sample donors and in the case of genetic research the repercussions may go beyond the donors to affect their families, ethnic groups, communities or populations. There are a number of ways of handling samples some of which are explained below.

Practicalities of disclosure of information by researchers and comprehension by participants and their communities

In order for participants to give truly informed consent to take part in research, firstly the researchers have to disclose all the critical information about the study, and secondly the prospective participants should understand the information in terms of potential risks, potential benefits and what participation will entail. In most developing countries lower levels of literacy could make it difficult to explain research, be it genetic research, biomedical research, clinical trials or any

Having explicit informed consent for samples used in genetic research

The informed consent should explicitly explain all the pertinent issues upfront, minimizing use of such vague terms as “your sample will be stored for possible future research”. It should be made clear that storage of samples for possible future research per se is not unethical, but the point is that all issues pertaining to the future research should be dealt with as much as possible upfront. Thus it should be clear why there is need to store the samples in the first place, for how long the

Discussion

Genetic research has been the major driving force behind the emergence and development of ‘Molecular Medicine’, which is a specialized field in clinical medicine that covers diagnostic methods for detecting genetic predisposition to diseases, drug and vaccine design, gene therapy and customised drugs (pharmacogenomics). In light of such diseases as inheritable colon cancer, familial breast cancer, neurofibromatosis types 1 and 2, Huntington disease, myotonic dystrophy, Alzheimer's disease and

Concluding remarks

There are several specialized research fields that fall under genetic or genomic research. The term genetic research is generally used in its broad sense to cover studies focusing on specific genes as well as studies covering the whole genome. The main characteristic of the various specialized fields is that the fundamental basis is genetic information which may be obtained from various types of samples ranging from cells, through tissues and organs, to whole organisms. When the samples are

Acknowledgements

I am grateful to The Bill and Melinda Gates Foundation for Grant ID#37350 awarded to AMANET for Building Institutional Capacities in Health Research Ethics in Africa. AMANET also receives major support from the Danish Development Agency (DANIDA), the European Commission (DG- Research and AIDCO), the Netherlands Ministry of International Cooperation (DGIS), the European Developing Countries Clinical Trials Partnership (EDCTP), and the African Caribbean Pacific Secretariat for various project

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