We have just heard several perspectives on population genetics, and in particular, the Human Genome Diversity Project (HGDP). In this paper I will summarize the conclusions of a report by a UNESCO IBC subcommittee on population genetics, that I had the privilege to be working on, with the support of several friends here at the ABC, Genoveva Keyeux, Norio Fujiki, and Heng Leng Chee.
Firstly I want to ask you all, where are your roots? One home is Japan. I have another home, New Zealand, Aotearoa. I wonder how many generations back your roots go back in the place you call home? In June this year I had the surprise to see my name, Macer, on a Roman coin from the first century AD. Our coin collector friend said this person was one of three in charge of the Imperial Mint at that time, and they used to put their name on the coins they designed. Otherwise I knew my family genealogy goes back 3 generations to the UK. Earlier than this I assume I came from Adam and Eve of Africa. Population genetics could trace my roots back.
About 50,000 years ago we know Neanderthal groups looked after their sick and handicapped, so that these people could live to an old age. We can see from burial sites, perhaps this was the beginning of social welfare ethics. From DNA sequencing of the mitochondrial DNA of a Neanderthal person we see that they were a different line of descent from Homo sapiens, our species. Our species probably has the dubious honour to have killed all Neanderthals, a habit that we also seem to maintain with racism and eugenic programs of this century. It is against this background that we should consider the project to understand human history and genetic relationships.
2. The UNESCO International Bioethics Committee Report
Given the transnational nature of population genetics studies, the issues raised were the subject of a study by the UNESCO International Bioethics Committee. The report has been available on my Internet site since completion in November 1995 (1). Key points of the UNESCO report were:
1. no endorsement of a particular population genetic project;
2. call for establishment of a separate ethical committee that is available to all population genetics researchers;
3. discussion of variety of ethical, ethnic and social issues.
There are many issues of population genetics research that were raised in general in the report that apply to the whole of genetics research. One of the issues is commercialization and use of the results of the collected DNA and cells. This controversial issue is discussed in the report, to the extent that it should be addressed by those involved in the collecting of samples and be part of the consent and cooperation agreements.
Financial returns are not the only form of benefits of research results which could be returned to subjects of research. The benefits should flow back to the groups and communities, for example contributing to the formulation and implementation of local and national health care policies that would enable communities to better their positions.
Many of the issues in current genetic screening programs are relevant to population genetics research, but some significant issues are different, such as the notion of group consent, as elaborated by Henry Greely in the North American Protocol of the HGDP. The application of the ethical principle of informed consent and respect for integrity is a complex process at the level of populations. We do not ethically require group consent for most genetic testing, though society may draw the line at the freedom of choice to use genetic probes for non-therapeutic purposes (e.g. sex selection is banned in several countries, and is banned under the European Convention on Bioethics).
Various groups of indigenous peoples have expressed their irritation with past population genetics research which they claim has been conducted without prior consultation and in a way where consent was obtained in terms inconsistent with their cultural norms. Because the HGDP was planning to collect blood samples some groups called the HGDP the "Vampire project" (4), while other groups were angry because they believed that they were possible target populations even though no community representatives had been contacted about the Project. The Mataatua Declaration on Cultural and Intellectual Property Rights of Indigenous Peoples of June 1993 (5) called for a halt to the HGDP until its impact has been discussed. The Declaration is actually not anti-science, and includes a call for involvement in scientific research.
Since that time, the HGDP goals have shifted somewhat, but there has been a series of Declarations directed against this project (6). So when I became involved in the UNESCO IBC report I thought the most necessary bioethical principle to work for was to build harmony between the views of HGDP organizers, HUGO who endorsed the work, and opponents. The work gave me the privilege to meet and contact sincere individuals on both sides of the debate. It also gave me the chance to be in different conferences representing the opposite sides of the debate to each group. Members of both groups get very heated on this subject - and I share their idea that it is an important issue.
Current population genetics research is under the oversight of different layers of control which vary widely around the world. This oversight ranges from the discretion of individual researchers, consent from the persons who provide the tissue samples, consent from the groups being studied, to several layers of ethical committees. International regulations on research involving human subjects are clear that informed consent is needed. Some funding agencies demand ethical review, such as NIH-funded research in the USA. Some universities in the world also demand ethical review, and the trend is to have more review.
Some of the ethical issues of population genetics research need to be further addressed include: Consent from individuals; Consent from population groups; How to obtain free and informed consent; Selection and participation; Use of the knowledge gained; Return of benefits to participants; Clash of world-views; Does the right not to know apply to communities?; Who speaks for a community?; Ownership of genes and derived knowledge; Public understanding and racism or eugenics; Stigmatization and genetic reductionism; International oversight of anthropologists & geneticists.
One of the fundamental points of
opposition of indigenous groups towards genetic studies of human
history is that the results may contradict indigenous people's
views of oral and traditional history, and the meaning of genes
and genealogy. For example, Maori people have two words to describe
the human gene, one meaning "life spirit of mortals (Iratangata)and
the other genealogy (Whakapapa), which connects Maori with themselves
and others (6). The gene and genome are not the property of individuals
but rather are part of the heritage of families, communities,
tribes and entire indigenous nations. In this regard the UNESCO
position on the human genome being part of the common human heritage
is more compatible with the views of indigenous persons, than
the view supporting patents on genes.
3. The future and oversight
Among the demands of protesters is that researchers should investigate the samples that they have in collections and show whether it was obtained with informed consent. This seems a worthy fact to reveal, and documenting this would provide some fresh data into the alleged abuses of the past.
Whether or not samples that were obtained without consent should be destroyed is debatable, but one could at least place restrictions on the input of data into a global database should that be formed.
The request against sharing data from scientists with commercial or military researchers is also difficult, but a decision on military research should be made. I would suggest a database be established of what has been done in the past - it seems ethically more urgent than the database of cell lines.
The UNESCO report did not endorse any particular population genetic project, but this is not a critique of the HGDP. It was rather our personal view that the role given to us by UNESCO could better be served, as could science, by the establishment of a separate ethical committee that is available to all population genetics researchers. Rather than being exclusively linked with one particular project and focusing attention solely on it, we wanted a wider selection of scientists to feel able to seek an international ethical committee, and we invited scientists to contact us (11).
The Human Genome Organization (HUGO) Ethics Committee also endorsed a Code of Ethics for genetic sampling, based on a report prepared by BM. Knoppers, M. Hirtle, S. Lormeau. It stresses similar issues to those raised by the UNESCO subcommittee. The HUGO - ELSI Committee Code of Ethics was endorsed by HUGO in March 1996. It recommends principles for genetics research based on: scientific competence, understandable communication (two way), consultation with participants, free and informed consent, respect the choices of those involved, confidentiality, international collaboration, avoid conflict of interest, undue inducement through compensation, and continual review of the research.
The current status of that ethical oversight committee is that I have assembled a dozen members representing both sides of the debate, and acceptable to UNESCO, HUGO, HGDP and Indigenous Groups. We would exist to be a committee to hear complaints from persons or groups who feel they have been inappropriately sampled by scientists, and for scientists and anthropologists to contact and seek advice on ethical issues before commencing projects. The delay is funding, which need not be great. We would welcome your suggestions, and also an endorsement for the need for such a committee.
I conclude it is ethically and scientifically
desirable to have regulatory oversight of research involving the
sampling of human populations, meaning a certain degree of scientific
and ethical review prior to the acceptance of a research protocol,
once accepted, ongoing monitoring and surveillance usually are
not assured. We also need to start gathering systematically the
examples of use and abuse of DNA and cell sampling, to give us
the necessary knowledge to better predict the future. Above all
we need to have anthropologists and scientists who seek ethical
sampling in harmony with the populations that they work with.
6. References
1. Chee, H.L., El-Hamamsi, L., Fleming, J., Fujiki, N., Keyeux, G., Knoppers, B.M. and Macer, D., "Bioethics and human population genetics research", Report of the UNESCO International Bioethics Committee Third Session, 1995, from the subcommittee on bioethics and population genetics <http://eubios.info/PG.htm">..
2. Recent reviews include: Chadwick, R. et al., Ethical implications of human genome analysis for clinical practice in medical genetics with special reference to genetic counseling (Centre for Applied Ethics: Cardiff, 1993); McCarrick, P.M. "Genetic testing and genetic screening", Kennedy Institute of Ethics Journal 3: 333-54 (1993); Murray, T.H., "Genetics and Just Health Care: A Genome Task Force Report", Kennedy Institute of Ethics Journal 3: 327-31 (1993); Nuffield Council on Bioethics,Genetic Screening: Ethical Issues (Nuffield Council: London, 1993); Nielson, L. & Nespor, S., Genetic Tests, Screening and Use of Genetic Data by Public Authorities in Criminal Justice, Social Security and Alein and Foreigners Acts, (The Danish Center for Human Rights, 1994).
3. Macer, D., "Whose Genome Project?", Bioethics 5: 183-211 (1991).
4. Lock, M., "Interrogating the human diversity genome project", Social Science & Medicine 39: 603-6 (1994).
5. Mataatua Declaration on Cultural and Intellectual Property Rights of Indigenous Peoples of June 1993 [From the First International Conference on the Cultural and Intellectual Property Rights of Indigenous Peoples, 12-18 June, 1993, Whakatane, Aotearoa (New Zealand).
6. Mead, A. "Genealogy, sacredness, and the commodities market", Cultural Survival Quarterly (Summer 1996), 46-53. Declarations against the HGDP include: Karioca Declaration (June, 1992, Brazil); Mataatua Declaration (June, 1983, Aotearoa New Zealand); UN-Working Group on Indigenous Populations, 10th Session (July, 1993, Geneva); Maori Congress (1993, Aotearoa New Zealand); National Congress of American Indians (3 December, 1993, Resolution NV-93-118); Maori Congress Indigenous Peoples Roundtable (June 1994); Guaymi General Congress (1994, Panama); Geneva IPR Workshop (August, 1994); Latin & South American Consultation on Indigenous Peoples Knowledge, Santa Cruz de la Sierra, Bolivia (September, 1994); Asian Consultation on the Protection and Conservation of Indigenous Peoples Knowledge, Sabbah, Malaysia (February 1995), Pan American Health Organisation Resolution (15 April, 1995); Pacific Consultation on the Protection and Conservation of Indigenous Peoples Knowledge, Suva Statement (May, 1995).
7. HGD Committee of HUGO, The Human Genome Diversity (HGD) Project. Summary Document, 1994.
8. Annas, G.J., "Privacy rules for DNA databanks. Protecting coded 'future diaries'", JAMA 270: 2346-50 . (1993); see also JAMA 267: 2158 (1992).
9. Nature 377: 372-3(1995).
10. Macer, D.R.J., Shaping Genes: Ethics, Law and Science of Using Genetic Technology in Medicine and Agriculture (Eubios Ethics Institute, 1990) <http://eubios.info/SG.htm">.
11.Macer, D. Fleming, J. Keyeux, G. & Knoppers, B.M. "Unesco and population genetics", Nature 379: 11 (1996).
12.Macer, D.R.J. Bioethics for the People by the People (Eubios Ethics Institute, 1994) <http://eubios.info/BFP.htm">.
13. Macer, D., "Bioethics:
Descriptive or Prescriptive?", Eubios Journal of Asian
and International Bioethics 5: 144-6 (1995).
Please send comments to Email < asianbioethics@yahoo.co.nz >.