HGN activities in ELSI of human genomics
Recognizing the importance of ethical, legal, and social issues raised by developments in human genomics, WHO's Human Genetics (HGN) has identified four priority areas of focus after a series of deliberations and consultations with experts in genetics.
The four priority areas are
- genetic testing and screening
- genetic patents
- genetic databanks
HGN is working in cooperation with partners toward socially just and equitable health solutions and outcomes. Through its ELSI programme, HGN aims to
- Promote just and equitable access to affordable genetic tests, screening, diagnostics, and other technologies
- Promote the development and safe application of new technologies for health burdens borne by women, children, and disadvantaged groups
- Reduce health risk and ensure ethical conduct by providing guidance for safety standards, monitoring and evaluation of genetic databanks, genetic tests, and screening
- Empower and advocate for women, children, and disadvantaged groups in the development of genomics health research priorities, and in achieving affordable access to research products
- Develop tools for genomics capacity building, including educational modules and mechanisms for accessing bioinformatics, especially in developing countries
- Promote health through sound and ethical regulation of the research, development and use of genomics based technologies, and regulation of genetic service delivery in developing countries
Among the issues raised by developments in genetics, some of the most complex and important involve the effects on vulnerable groups, including impoverished communities or low- to middle-income countries, ethnic minorities, disability groups, women, children and economically disadvantaged persons. HGN's ELSI programme therefore attempts to integrate the perspectives of these groups into its approach to each area of focus.
A brief history of ELSI at WHO
WHO's Human Genetics (HGN) has studied some of the issues arising out of the globalization of the human genome project through preliminary consultations, which contributed to the production of the Advisory Committee on Health Research’s (ACHR) report, Genomics and World Health in 2002. HGN has also commissioned several reports and consultant papers on these topics. In April 2002, HGN cooperated with the University of Toronto’s Joint Centre of Bioethics (JCB), a WHO Collaborating Centre, in hosting a meeting that elaborated several recommendations and action points following from the Genomics and World Health report, including highlighting the need for addressing the ethical, legal and social implications of genetics. HGN has consequently worked closely with its partners, both within and outside of WHO, to make ethics integral to its activities.
Genetic screening and testing offer patients the choice to obtain information about whether or not they, or their future offspring, have a particular genetic condition. This information can be very valuable in assisting individuals and their families in making decisions about their future. However, it is very important that individuals facing this choice understand both the potential benefits and the potential risks of such procedures. For instance, patients should be aware that genetic information often does not tell the full story. For instance, a genetic test can indicate that one is predisposed to acquiring a particular condition but it does not gaurantee that one will infact get it, nor, if one does, when or how severely. Other factors are likely play an important role. It is important for patients to understand the consequences of a genetic test: in other words, they will need support and help in knowing what to do with the information, once they decide they want it. This information can help to make decisions about possible prevention or therapy; this information can also impose an enormous psychological burden on patients and their families, if there is no known way of preventing or treating the condition. It is therefore very important that genetic screening and testing be accompanied by education and counselling, which inform patients about their options, the meaning of the test results, and the possible consequences of such genetic knowledge. Genetic testing, screening, and prenatal diagnosis also raise questions about the distinction between normal and diseased, and whether all “genetic disorders” are “unhealthy”. Does an individual with a “cancer gene” count as a sick individual? Such procedures offer much information; the ethical and social issues arise in how we make sense of this information, and how it shapes our views of ourselves and others.
Large-scale databases that store genetic information and DNA samples promise to provide important information about the genetic profile of populations. These populations might comprise, for example, individuals with the same disease, such as cancer, or with a common ethnic heritage, such as a small and relatively homogeneous tribal or island community. Studies using genetic databanks can lead to the discovery of common genetic characteristics within such groups, and therefore help to guide health research and policy. However, the effects of genetic databanks on vulnerable groups have not been adequately explored. We need to ask, for instance, what is at stake for disadvantaged groups when researchers and others have access to their genetic information. There are also questions regarding benefit sharing, that have not been sufficiently probed. For example, what entitlement do individuals or groups who participate in such studies have to any of the products of the research? Are they owed anything in return for their participation in these important studies, which may potentially benefit hundreds or thousands of others, both medically and financially? A worry for both genetic databanks and genetic testing is the potential for stigmatization of “afflicted” genetic groups. For instance, what are the implications of a discovery that certain populations have a greater susceptibility to certain diseases? If particular genes are linked with particular behavioural characteristics, this could also have significant consequences for the affected groups. An awareness of these issues is necessary to guard against discrimination and ensure that the privacy and confidentiality of research subjects is protected.
Patents give inventors time-limited monopolies over their inventions. The idea is that this provides the inventor an opportunity to earn a profit from commercialising her invention without risk of competition. Patenting, then is designed to encourage inventiveness, by rewarding creative individuals with exclusive rights to their product for a certain period time. But the very idea of patenting DNA presents several ethical and legal dilemmas. For instance, some argue that it is not right that an individual or company can claim to have rights over, or to “own” biological material common to all humanity—particularly if the results of that patent are not going to benefit humanity. There are also some tricky questions about whether “discovering” bits of DNA, whose function one may or may not know, should legally count as deserving of a patent. Further, the proliferation of genetic patents raises concerns about access to and the affordability of genetic treatments and services, especially for economically impoverished communities, and the future of health innovation. Scientists around the world argue that there is an urgent need to respond to ethical issues in genetic patents in order to avoid serious obstacles to scientific data-sharing and medical progress. Yet, at the same time, solutions need to be balanced by a concern for promoting research and development progress and innovation.
- More information on intellectual property
- Human genetic databases: towards a global ethical framework
The area of pharmacogenomics is a very new one, though it is based on well established knowledge from pharmacology about the differential responses of individuals to the same drug. In aims to tailor drugs and doses to the particular biochemical composition of a patient, and thus make research and development, as well as treatment, more efficient and cost-effective. But questions arise about the access and affordability of its benefits. What’s more, given that pharmacogenomics is still largely in the research phases, we need to consider whether the health interests of women, children, and developing countries are adequately focused upon in research agendas and whether this research is undertaken in an inclusive manner.
Though addressing these issues is fundamental to the development of appropriate policies at the national and international levels, at present little agreement exists on the right way to solve them. Moreover, given the fact that genomics research and regulation impact not only on individuals, but on communities also families and sometimes, it is crucial that civil society advocacy groups and health care officials be included in the dialogue and decision-making of recommendations and tools.