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EDITORIAL

INTERROGATING THE HUMAN DIVERSITY GENOME PROJECT

MARGARET LOCK

In his book Marvelous Possessions Stephen Green- blatt explores the way in which, at the time of the ‘discovery’ of the Americas new and ‘wonderful’ knowledge about the natural world, among many other things, was garnered from native inhabitants, taken by force or in exchange for cloth, and spirited away to be stored in European libraries and archives for posterity. As his closing paragraph poignantly reminds readers, however, Greenblatt’s theme is not simply one of massive physical and intellectual ex- ploitation. He describes a visit to the village church in Tlacochahuaya in the valley of Oaxaca where he discovered, tucked away from view in a niche, a stone carving of the Mixtec god of death gazing down from the ceiling into the face of the crucified Jesus whose effigy was prominently displayed in the nave. In commenting that “the divinities have exchanged this sightless gaze, this perpetual circulation, for more than four hundred years” [l], Greenblatt seeks to illustrate the contradictory forces of resistance and assimilation at work when exotic Outsiders make contact with the Other.

It is evident that circulation of ideas and knowl- edge has accelerated geometrically since the time of Cortes, and today the ‘postmodern’ technology of electronic communication daily sets up unlikely jux- tapositions between ‘tradition’ and ‘late modernity’. Native-L, an aboriginal, First Peoples news net, has been humming lately with commentary and letters of protest relating to the proposed Human Diversity Genome Project. On 21 December 1993, for example, Chief Leon Shenandoah and the Onondaga Council of Chiefs sent an E-mail communication to the National Science Foundation in Arlington, Virginia demanding to know why the Project had progressed to its fifth meeting (there had in fact been three official workshops) “without discussion or consent of the indigenous nations and peoples it affects,” a situation which the Chief and his Council find “un- conscionable,” and one which “violates the canons of anthropology and science.” This letter followed an account given a month earlier on the same network of the proposed $23 million dollar Diversity Project in which up to 15,000 human “specimens” will be collected, many from “isolates of historic interest.” A hilarious commentary which started out: “Didja ever notice how come there ain’t no Injuns on STAR TREK?” completed the communication. A

Californian lawyer directly involved with the plan- ning of the Project has responded at length several times on the network, reassuring readers that thus far there have only been planning workshops and that the Project as such has not yet started. He described its proposed organizational structure, selection of populations for sampling, and eventual involvement of indigenous peoples at annual Project forums. He has also been in correspondence with RAF1 (Rural Advancement Foundation International), the organ- ization which first alerted the World Council of Indigenous Peoples to the Human Genome Diversity Project, and which has for many years taken an active stand over the patenting in the United States of the genetic plant material obtained from many parts of the so called ‘under-developed’ world.

This electronic skirmish is a fine example, I believe, of the way in which knowledge, which for- merly might have remained reasonably contained within the discussions, archives, and publications of academe and industry, today becomes quickly avail- able for public debate and politicization due largely to global assimilation of sophisticated technology- the native gaze, hypersensitive to exploitation (and no wonder), glowers back.

The Human Genome Diversity Project was con- ceived in 1991 by two geneticists, Allan Wilson (since deceased) and Luca Cavalli-Sforza in order to gain further insights into human origins and evolution, migration and reproductive patterns, adaptation to various ecological niches, and the global distribution and spread of disease. The ultimate goal, stated at the first organizational meeting in 1992, is to find out “who we are as a species and how we came to be” [2]. In order to undertake this ambitious task the group printed a request in the journal Genomics asking for researchers world-wide to assist them in an ad hoc way by collecting DNA samples from hundreds of ‘indigenous’ populations in order to create a database for the benefit of the scientific community. At the first meeting, after extensive discussion, it was agreed that for the Project proper DNA samples will be collected from between 400 and 500 hundred populations, in addition to European populations (to be handled separately). The tentative plan is to take, as a mini- mum, blood samples from 25 individuals in each population which will then be preserved in permanent cell lines for future analysis (ensuring that there will

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be no further need to return for more blood at a later date), and also to collect as many extra blood samples as proves possible from each selected population. In addition, tissue scrapings will be made from the inside of the cheek, and probably hair root samples will also be collected.

There has been considerable debate at the work- shops as to what constitutes a representative popu- lation for sampling purposes, a debate made especially difficult since the project has several major objectives. Should one sample primarily from isolated ‘well-defined ethnic and linguistic groups’ or should a geographic grid be created and samples collected from indigenous peoples spread more or less evenly around the world? Financial and logistical limitations put further major constraints on sample selection. Originally the collection of 50 blood samples from 200 groups was suggested, based on arguments that 50 is needed to give an accurate estimation of gene frequency in a population and, perhaps even more telling, that “one person can bleed 50 people and get to the airport in one day”[2]. However, several geneti- cists pointed out that, because a large number of DNA markers are now known, it is sufficient to examine as few as 25 or even 10 samples at several gene loci in order to gain reliable insight into genetic variation among a population. Thus, 400 populations could be sampled. However, by only taking 25 samples for ‘immortalization’ as cell lines, it was conceded that the ability to understand how suscepti- bility to specific diseases is distributed among popu- lations would be impaired within the given financial constraints.

Assuming that the reporting in Science is an accu- rate reflection of the discussion that took place, then the workshop proves to be grist for the cultural anthropologist’s mill, since it is evident that a ‘popu- lation,’ far from being a readily definable natural fact, is a contested and pliable concept, created to assist in the answering of specific questions and hypotheses. ‘Race’ has been banished (as unscientific and politi- cally loaded) from discussion, but ‘ethnicity’, an ever-shifting political/cultural category has, in effect, replaced it as the taxon denoting the demarcation of likely biological difference among human groups. Rather few cultural and linguistic anthropologists are comfortable, I believe, with an assumption of a close correlation between ethnicity based on shared language use and a common biological heritage. The geneticist Cavalli-Sforza, for example, suggested that in the New World, groups would be candidates for classification as an aboriginal population if they were “in place as of 1492,” well defined either by language, geography, or endogamy, and with little “recent interbreeding with other groups” [2]. To most anthro- pologists, such an explanation sounds naive, and ignores the continual migration and intermarriage of Homo Sapiens over many thousands of years. It is well known that a good number of cultural anthropologists are ideologically disposed to denying

biological diversity among the human species as a subject worthy of investigation, often because of their sensitivity to its possible misapplication [3]. If this project is to have some success and avoid being hijacked into the service of pseudoscience, racism, and nationalisms, however, it will be important to have frank, public discussions from the outset about the way in which taxa such as ‘populations’ and ‘species’ are necessary, but flexible, heuristic devices created by biologists into order to facilitate measurc- ment and comparison. The greatest danger. as always with debates involving biological variation. lies in the interpretation of culturally created concepts such as ‘ethnicity’ or ‘population’ as natural facts. from which extrapolations are made to justify exclusionary or containment policies.

The exercise is likely to confirm what is already well known (but still conveniently forgotten by many), namely that there is remarkably little genetic diver- gence among the human species based on social and cultural demarcations. The Human Genome Project (HUGO), with which the Diversity Project is loosely affiliated, has capitalized on this lack of variation in its effort to create a ‘map’ of what will be accepted as the human genome, an endeavour described by one biological anthropologist as “ill-conceived essential- ism.” Assuming the endeavour is successful. the end product will be a standardized abstraction created out of research conducted primarily on ‘European’ and a little ‘Asian’ genetic material. We will all be understood as deviations from this ‘normal’ mythic genome. As the biologist Lewontin has pointed out, “the human DNA sequence will be a mosaic of some hypothetical average person corresponding to no one” and polymorphism will be ignored [4]. Parddox- ically, while we share most of our genetic material in common with other members of our species. each individual being genetically unique is, at the same time, the primary repository of human variation. One of the objectives of the Human Genome Diversity Project is to counteract in some measure the excessive standardization and parochialism associated with HUGO, while at the same time contributing to a further debunking of racial mythologies by showing the paramount importance of individual variation. However, in addition, the Project has an expressed objective of locating those relatively few genetic markers which are concentrated in specific ethnic groups due to random mutation or the interaction of biological and cultural adaptions in specific ecologi- cal niches. Because of its interest in population based biological difference, the Project will inevitably find itself mired in political mud-slinging unless its mo- tives are impeccable, and the limitations and possible co-optation of science fully recognized.

It was after the second meeting that alarm bells started to ring among indigenous peoples, because at that time 722 populations were selected as examples from among 7000 groups recognized as eligible for possible inclusion in the Project. There was.

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apparently, agreement among the more than 50 people at the meeting, the majority of whom were anthropologists, that highest priority should go to “unique, historically vital populations that are in danger of dying out or being assimilated” [5]. At the top of the list headed in Science as ‘A few of the Chosen’ were, among others, the !Kung, the Hadza of Tanzania, the Yamomami, the Chukchi of Siberia, and the Onge who live in the Andaman islands off Malaysia. One of the groups singled out for study, the ‘Etas’ of Japan, immediately signals cause for con- cern. This pejorative name, no longer used in Japan, designated an urban outcaste group, which, despite marriage prohibitions, never remained biologically isolated. The language used in the two Science articles which emphasizes the urgency of capturing DNA samples from indigenous, exotic people before they ‘die out’ is very disturbing, and the irony of these remarks was not lost on contributors to the Native-L network. It was after Iroquoian representatives found their Nation on the list that they took to E-mail to publicize their concern, in particular because they had not been consulted about inclusion in the Project. Greek the Stanford lawyer on the Project replied in E-mail that the list had been created solely to indicate examples of suitable indigenous groups; he insisted there was no expectation that groups or individuals would participate unless they first gave their fully informed consent.

As far as the ethics of the proposed project is concerned, at least three areas of concern have been raised at Project workshops. The first is to do with the collection of data and informed consent. It is agreed that workers who draw blood samples must be alerted to possible accidental exposure to disease. The question of confidentiality with respect to stored DNA samples has also been brought up. In addition, donation of services, especially medical services to participating populations, has been discussed, but such an arrangement would be subject to local licensing and dispensing requirements.

Given the isolation of many of the populations involved, their non-literacy, and lack of acquaintance with a cosmology grounded in molecular biology, obtaining informed consent will be a contrived exer- cise, which, aside from human rights issues, may have some unforseen results. One of the members of the North American committee for the Diversity Project noted, for example, that participants in a prior research project had felt insulted by being required to sign or put a mark on a form; their attitude was that having showed up in order to take part, that should be sufficient. Informed consent, a practice grounded in the Euro/American philosophical heritage, is a dubious concept even where no marked language or cultural differences exist; in Japan, for example, although argued about, informed consent has no widespread application to date. Project members are aware of the need to involve translators capable of explicating both local values and project require-

ments and goals. However, in situations where par- ticipants have no possibility of fully conceptualizing the objectives of the project, where societal values are not grounded in the inherent rights of individuals, and where there is no legal recourse should problems arise, before the Project starts, discussion of what exactly informed consent, right to refusal, and third party mediation between different knowledge sets might mean, is vital. Consent freely given is obviously the ideal, but to imagine that consent can be ‘fully informed’ or given autonomously in the majority of cases is unrealistic. This being said, I think that women living in the ‘developed’ world are currently less likely to be able to give informed consent about the purported ‘risks and benefits’ in connection with the prescription of hormone replacement therapy than are indigenous peoples with regard to providing a single blood sample for the Human Diversity Genome Project (how the blood is managed once collected is another matter, see below). The point of suggesting further careful discussion ahead of time is not to derail the Project, but to heighten the possi- bility for an encounter which does not leave partici- pating peoples feeling that they are left only with a bruised arm, something which Project organizers are clearly very sensitive about. However, they may be less sceptical than are many cultural anthropologists about the very notion of informed consent as a tool for negotiating bodily practices in situations where unequal power relations are evident. Thus, some of the Project organizers may be tempted to reach closure without doing justice to the complexity of the issue, in particular by avoiding a discussion of their own culturally produced assumptions in connection with human rights and scientific investigations.

A second area of concern is over the question of patenting. RAF1 has pointed out that, at an average total cost of $2300 per sample, the Human Genome Diversity Project will spend more money gathering blood than the per capita GNP of the world’s poorest 110 countries. They also remind us that “more than 90% of all the plant germplasm collected in the southern hemisphere in the last two decades has ended up in gene banks in Europe and North America,” and that this material has yielded billions of dollars to agribusiness [6]. The patenting of this plant genetic material has become a controversial topic and the question of royalties is now on the table.

A search undertaken by RAF1 in 1992 revealed that the American Type Culture Collection already contains 1094 human cell line entries, and patent applications have been made on more than one third of them. The U.S. government’s National Institute for Health has been a very active applicant. More than one patent application has already been made on cell lines taken from indigenous peoples including one from a Panamanian Guaymi Indian. This appli- cation was withdrawn as the result of pressure brought to bear by, among others, Greely, the lawyer

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who is part of the Diversity Project. Indigenous com- munities and involved scientists alike are now alert to the possibility of governments and business earning enormous royalties from genetic material taken from individuals whose very survival is in question. Moves are being made to create internationally binding legal protection of data, something with which the Euro- pean parliament concurs, but the Americans and the Japanese have so far failed to recognize.

The Project plans to respect what has come to be known in connection with the genetic manipulation of indigenous crops, as “intellectual property rights.” Should a blood sample prove to be the source for the development of a vaccine, for example-something which the involved biological anthropologists con- sider to be unlikely-then the local population and individual donors maintain rights to any profit which accumulates; but the large question, as always, is how to force commercially minded interests into compli- ance. The Project has made it clear that appropriate technological transfer should be considered integral to any benefits which accrue from the research. A cautionary tale is provided by a recent case in which Genetic Engineering News reported the discovery that 30 citizens of Limone, Italy are carriers of a gene which is thought to be effective in reducing risk for heart disease. This village has since been inundated not only by journalists, but by Swedish and Swiss pharmaceu- tical companies and scientists, jostling for blood samples while making hasty applications for patents.

A third area of concern is with possible genocide. The Project’s plan as it stands, finances permitting, is to store duplicate samples of the DNA cell lines with recognized governments of the regions in which in- volved indigenous peoples reside, or else with re- gional institutions. RAF1 is concerned, for example. as to whether the six indigenous communities in Iraq designated for sampling for ‘immortality’ in Bagh- dad, can be sure that their cell lines will not be tampered with in some nefarious way which might lead to the destruction of the peoples themselves. Project members have taken this charge seriously but believe that, given the genetic variation within indige- nous groups, the shared genetic make up with all other human populations and the dollar cost in- volved, genocidal attempts are neither a realistic or feasible possibility. RAF1 is also concerned that foreign aid budgets may be diverted into the Diversity Project and away from activities having immediate benefit for local recipients.

The scientific goals of enhancing knowledge in connection with human phylogeny and paleopathol- ogy, of tracking down prehistoric and historical migration routes prior to the formation of contempo- rary social groups, and of establishing the present distribution of disease, genetic variation, and im- muno-responses among local populations are laud- able and exciting endeavors. Clearly there will be intrusion into the lives of individuals and societies who thus far have benefited little, if at all, from

scientific insights, nevertheless the objectives are worthwhile, provided that population specification is subject to further critical interrogation. Participants will in all probability gain little or no direct benefit from the present investigation aside from some im- mediate compensation together with the possibility of finding out in biological terms where they ‘came from-information in which some groups have no interest, since their mythological canon stands them in good stead. while others have shown a keen interest in this aspect of the project. It is also possible, for example, that the distribution and mechanism of a genetic predisposition to diabetes, prevalent among indigenous populations of North America (but only manifested as disease since the middle of this century) could be better understood-not to create a geneti- cally determined argument about diabetes, but to broaden the knowledge of patients and researchers alike into the relationship among culture, environ- ment, and genes.

It is clear that several of the accusations made against the Diversity Project are erroneous. For example, the project is simply in the planning stage and not under way-nothing is at yet consolidated, contrary to what has been suggested on the E-mail circuits. How-ever, the dissatisfaction and fear being expressed among certain indigenous groups is under- standable, indeed probably unavoidable given the overall track record of past encounters with forces from the outside. Had one or more ‘indigenous’ anthropologist, geneticist. lawyer, or other specialist been included from the outset in the first workshop, and had much more communication flowed from the original co-ordinators of the Project to those who are the potential ‘subjects’ of the research, then the present confrontation might have been averted. Re- gional committees of the Project are now established which will include local expertise. Possibly the dam- age can still be repaired with good will on both sides, and perhaps (but I am doubtful), the daunting ethical issues can be handled competently and not sabotaged by mercenary interests. If these problems are con- tained, and if local peoples find that they wish to participate, then the investigation of biological diver- sity and its inter-relationship with culture is certainly a project whose time has come.

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REFERENCES

Greenblatt S. Marvelous Possessions: The Wonder of the New War/d. The University of Chicago Press, Chicago, 1991. Roberts L. How to sample the world’s genetic diversity, Science 257, 12041205, 1992. Holden C. Failing to cross the biologyculture gap. Science 262, 1641-1642, 1993. Lewontin R. C. The dream of the human genome. NY Rec. Books 28 May 1992. Roberts L. Anthropologists climb (gingerly) on board. Science 258, 130@ 1301, 1992. RAF1 Communique. Parents, Indigenous Peoples, and Human Genetic Diversity. Rural Advancement Foun- dation International, May, 1993.