How do paleoanthropology and genomics offer different paradigms/thought styles for understanding human diversity across place and time?

Decode Me!: Anthropology and Personal Genomics

Author(s): Gísli Pálsson

Source: Current Anthropology , Vol. 53, No. S5, The Biological Anthropology of Living Human Populations: World Histories, National Styles, and International Networks (April 2012), pp. S185-S195

Published by: The University of Chicago Press on behalf of Wenner-Gren Foundation for Anthropological Research

Stable URL: https://www.jstor.org/stable/10.1086/662291

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Current Anthropology Volume 53, Supplement 5, April 2012 S185

� 2011 by The Wenner-Gren Foundation for Anthropological Research. All rights reserved. 0011-3204/2012/53S5-0016$10.00. DOI: 10.1086/662291

Decode Me! Anthropology and Personal Genomics

by Gı́sli Pálsson

With the advancement of genomic research, the issue of human variation has been redefined. Genomic anthropology has played an important role, drawing on and expanding anthropological understanding of human genomes and their differences. Focusing on the deCODEme and 23andMe projects, which offer personal services to people who wish to assess genetic risks for common diseases and to explore geographies of ancestry, in this article I discuss some of the larger implications of these developments. I shall argue that in the process, the boundary between experts and lay persons has been blurred and refashioned. I suggest, however, that it is also essential to attend to the potential hierarchies in the making in the assembly of personal genomic material and information through which consumers become active collaborators.

In November 2008, Time magazine announced its list of the best innovations of the year (Hamilton 2008). This time the retail DNA test 23andMe, a project drawing on genomic an- thropology in one form or another, ranked number one.1

Based in Mountain View, California, 23andMe offers to es- timate a person’s predisposition for a number of traits and diseases on the basis of a saliva test in return for $399.2 The journal Nature also listed “Personal Genomics Goes Main- stream” as a top news story for the year. On November 16, 2007, a few days before the launching of 23andMe, another company, deCODE genetics, based in Reykjavı́k, Iceland, an- nounced a similar service—deCODEme.3 Several other com- panies, including Navigenics and Pathway Genomics, have either started or scheduled one form or another of retail genomics.4 In 2008, 23andMe held a “Spit Party” during New York fashion week (Salkin 2008); volunteers would spit into a test tube. This is, indeed, consuming genomics, a rapidly growing business receiving both substantial financial support and intense public attention. Focusing on the deCODEme project, in this article I discuss some of the spin-offs of these developments; their larger implications for the understanding of self, personhood, and ancestry; and the ways in which they implicate both the public and genomic anthropology. What is anthropology to make of personal genomics and its own predicament?

With the advancement of genomic research, the issue of human variation has been redefined. Genomic anthropology has played an important role in both personal genomics and studies of human variation, drawing on and expanding an-

Gı́sli Pálsson is Professor of Anthropology in the Department of Anthropology at the University of Iceland (101 Reykjavı́k, Iceland [[email protected]]). This paper was submitted 27 X 10, accepted 23 VI 11, and electronically published 14 XII 11.

thropological understanding of human genomes and their differences. I shall argue that in the process of its development, genomic anthropology has coproduced new biosocial net- works of associations along with a whole series of technologies and agencies engaged with biomedical research (Lock and Nguyen 2010). At the same time, the boundary between ex- perts and lay persons has been blurred and refashioned. Pro- jects such as 23andMe, deCODEme, Pathway Genomics, and Navigenics “democratize” genomics both in the sense that they offer test kits for a low price (ranging from $250 to $2,500)—within the reach of the public, at least not just the research elite and the wealthy—and in the sense that analyses and interpretations of genome scans are now a matter of intense public discussion through all kinds of media, includ- ing Web browsers and blog sites.

I would argue that up to a point, personal genomics has democratized genomic discourse. However, I also suggest that it is essential to attend to the biosocial relations of production

1. Among the remaining 49 best innovations on Time’s list were the bionic hand (14), the synthetic organism (21), bionic contacts (24), the biomechanical energy harvester (33), and enhanced fingerprints (39). The year before, Apple’s iPhone was the winner.

2. https://www.23andme.com/ (accessed December 8, 2008). 3. http://www.decodeme.com/ (accessed March 10, 2009). 4. A somewhat similar and yet radically different project is that of the

Personal Genome Project, a study at Harvard University Medical School. Its goal is to challenge conventions on privacy by assembling genetic samples from 100,000 volunteers who agree “to share their genome se- quence and other personal information . . . with the scientific community and the general public” (http://www.personalgenomes.org/participate .html [accessed December 8, 2008]), thereby advancing medical research. This is not a business enterprise and no payments are involved. The prime benefactors are research units that freely access people’s genomes out in the open, a strange fusion of genetic voyeurism and genetic ex- hibitionism. It should be noted that 23andMe is also moving in the direction of health activism.

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S186 Current Anthropology Volume 53, Supplement 5, April 2012

involved (Pálsson 2009a), the potential hierarchies in the making in the assembly of personal genomic material and information through which consumers become active collab- orators. The new genetics has not only called for the notion of the biosocial (Rabinow 1996); to address the radical con- flation of the natural and the cultural with the refashioning of life itself, associated advances in biomedicine and biosci- ence also make it pertinent to address the broad context of biosocial relations and labor processes (Dickenson 2007). While, as I shall suggest, in a late-Foucauldian fashion, the users of personal genomics can be said to work on themselves, seeking to know themselves and plan their future, their labor also needs to be situated in the biomedical mode of produc- tion that has generated personal genomics, the hybrid com- plex of living material and social relations evident in the on- going production of biovalue. How, we must ask, do people become implicated in new labor processes as they subscribe to personal genomics services?

The outline of the discussion is as follows. The first two sections focus on shifting perspectives on human differences in the wake of the new genetics during the latter half of the twentieth century, as genomic anthropology began to compete with physical anthropology as the prime forum for analyses of human variation and history. This shift is illustrated partly with reference to the Icelandic context and the arrival of the biomedical company deCODE genetics. The next two sections deal with the deCODEme and 23andMe projects and the emerging biosocial communities associated with the devel- opment of personal genomics and the changing demarcations of expertise it represents. This is followed by a discussion of the implications of genetic ancestry and relatedness for un- derstandings of self and personhood, the labor carried out by the users of personal genomics and the biosocial relations involved, and, finally, a concluding commentary on the main theoretical and empirical grounds covered. The empirical part of the discussion is primarily based on exchanges on the Web among consumers and genomic experts and my own expe- rience of requesting a genome scan and exploring the results.

From Physical Anthropology to Molecular Anthropology

One useful avenue into early twentieth-century physical an- thropology is the work of Ernest Albert Hooton at Harvard University. While his views were somewhat difficult to specify—he criticized Nazi physical anthropology, but at the same time he sponsored racist projects (see Marks 2008a: 244)—he was one of the most prominent physical anthro- pologists in America. His work Up from the Ape, originally published in 1931, emphasized the continuity of human rea- soning on anatomical difference.

Actually, science is forced to recognize the differences in

physical characteristics between the great divisions of man-

kind. . . . For, the ordinary layman—the plain, untutored

Homo sapiens—today and for the past thousands of years

has observed these gross anatomical differences between the

principal groups of this kind, has drawn the generally correct

inference that they are transmitted from parents to children,

and has attributed to them enormous political, sociological,

psychological, and biological significance, rightly or wrongly.

(Hooton 1946 [1931]:440–441)

While Hooton emphasized the antiquity of the theme of var- iability, he was eager to establish the autonomy of his scientific discipline with respect to the ignorant public. Commenting on race, he suggested that “confusions of usage are usually confined to the non-anthropological writing public. All an- thropologists agree that the criteria of race are physical char- acteristics” (Hooton 1946 [1931]:447). At the same time, Hooton was keen to set his kind of science apart, irritated by challenges from social scientists.

Man is an inveterate amateur of the taxonomy of his own

kind. He cannot be argued out of the habit of connecting

the physical differences he sees in individuals or groups with

their equally obvious variations in behavior by any set of

“social scientists,” however loudly and persistently they tell

him that there is no difference between black and white

skins apart from exposure to the sun, and no difference

between the psychology of a Mongolian and a White, apart

from their having grown up in the Rice Bowl and the Dust

Bowl, respectively. (Hooton 1946 [1931]:447)

For Hooton, skeletal material was the main source of in- formation on human variability. The measurement and clas- sification of bones became an obsession. This is underlined by the extensive cross-cultural bone collections of the Peabody Museum at Harvard University, a kind of ethnographic atlas engraved in human bones. One of the students at Harvard, the Canadian-Icelandic anthropologist-explorer Vilhjálmur Stefansson, who contributed to the Peabody collection with a sample of medieval Icelanders, later did extensive ethno- graphic fieldwork among Canadian Inuit (between 1907 and 1918). A frequent phrase in his notebooks is “measured a few heads today” (Pálsson 2005). Stefansson would move from one Inuit camp to another, lining up his noble savages to have them photographed and measured, setting up what he might have called measurement parties, precursors to the spit parties of 23andMe.

While the measurements of the bone people were exceed- ingly detailed, the classificatory scheme within which they were placed was highly simplistic and archaic, often with an implicit racial tone. Inevitably, the arrival of human genetics and biological anthropology after World War II provided a new avenue into the understanding of human variability, moving the kinds of measurements and classification of skel- etal material typically practiced by physical anthropologists during the first half of the twentieth century to the sidelines. Did they represent new paradigmatic “thought styles,” in

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Pálsson Anthropology and Personal Genomics S187

Fleck’s sense of gestalt shifts in intellectual interests, in “the readiness for directed perception and appropriate assimilation of what has been perceived” (Fleck 1979 [1935]:142)? How radical were the breaks represented by the discovery of the double helix, the mapping of the human genome, the IT revolution and the Internet, the new economy, and related events and developments? Are we able to meaningfully situate ourselves and to domesticate our biases?5 Interestingly, given the context of skeletal analyses, one of the key illustrations in Fleck’s book, originally published in 1935, demonstrates the usefulness of his thought-style perspective through dis- cussion of changing understandings of human anatomy. “To obtain an even clearer picture of how scientific observation differs when two different thought styles are involved,” he suggests, “it is perhaps appropriate to compare anatomical descriptions and illustrations in early and recent text books” (Fleck 1979 [1935]:133).

As Glick (2008) remarks, the “great debate over race passed the Darwinian divide with scarcely an acknowledgement that anything had changed. Race was an issue marked by lack of ontological control, and that control would be gained slowly and with continuing conceptual difficulty until ‘population thinking’ introduced some clarity after World War II” (240). The anthropological terrain of human variability in the wake of the new genetics, however, proved to be highly differen- tiated and rapidly changing, with both radical innovations in methods and perspectives and surprising continuities. Sommer (2008) emphasizes successive contests, following the birth of what Zuckerkandl identified as “molecular anthro- pology” (Zuckerkandl 1963), over what counts as a legitimate epistemic object and authoritative information in the recon- struction of hominid evolution and human variation. The early molecular anthropologists became convinced of the in- trinsic superiority and mathematical precision of direct mo- lecular data in comparison with the subjectivity of readings of anatomic data and the fossil record. For instance, at Berke- ley, Washburn “heralded the new technologies as finally pro- viding some scientific base to claims about human evolution,” ridiculing “comparative anatomy as a kind of pseudo-science that had given rise to just-so stories” (Sommer 2008:502). Over time, it was assumed, molecular studies would reduce if not eliminate the endemic bias involved when a species was studying itself informed by the belief in human exception. Ironically, however, in due course the analysts became over- whelmed by their faith in their methods. Vincent Sarich, for instance, one of those Washburn recruited at Berkeley, even- tually argued against the mantra of “direct evidence” on the

5. Fleck (1979 [1935]) warns that the taken-for-granted status of the thought style of the observer poses a serious problem of bias: “To the unsophisticated research worker limited by his own thought style, any alien thought style appears like a free flight of fancy, because he can see only that which is active and almost arbitrary about it. His own thought style, in contrast, appears imperative to him . . . as a result of education and training as well as through his participation in the communication of thoughts within his collective” (141).

basis of molecular data, suggesting that “one no longer has the option of considering a fossil specimen older than about eight million years a hominid no matter what it looks like” (Sarich, cited in Sommer 2008:504 [emphasis Sommer’s]). The thought style of molecular studies had become hege- monic, avoiding contradictory evidence.

Personal Genomics via Oxford and Reykjavı́k

The archaeology of the kind of personal genomics we now have on the horizon has several layers, among them maps of human genome diversity, population biobanks, digital gene- alogies, and the Internet. One of the pioneers of the genetics of ancestry and its commercialization through the Internet is Bryan Sykes of Oxford University, a human geneticist who published the first report on retrieving DNA from ancient bone (Hagelberg, Sykes, and Hedges 1989) and founded the genetics testing firm Oxford Ancestors, probably the first ser- vice of its kind. His company offers people an opportunity to see which “clan” they belong to, tracing their ancestry to one of the seven daughters of Eve (Sykes 2001). To attract customers, Sykes (2001) dramatizes the saga of the seven daughters: “What were they like, these women to whom al- most everyone in Europe is connected by an unbroken, almost umbilical thread reaching back into the deep past?” (197). For him, the power of DNA consists in the “token or a symbol of the shared ancestry it reveals rather than the body chemistry it directly controls” (290). Common membership in a clan establishes a profound connection: “We look at each other and sense our deep umbilical connection. . . . I feel we have something very deep in common” (289 [emphasis added]).

One of the interesting sites of biomedical experimenting and personal genomics over the last decade is Iceland. Here as elsewhere, the introduction of human genetics represented a change in thought style, with new players and perspectives. Soon after World War II, physical anthropology developed at the University of Iceland through the work of Jón Steffensen, professor of medicine (see, e.g., Steffensen 1953), and Jens Pálsson, founder and former director of the Institute of An- thropology (see, e.g., Pálsson 1976). Both of them worked on skeletal material.6 Their interests, however, differed signifi- cantly (Pálsson and Guðbjörnsson, forthcoming); Steffensen emphasized medical and cultural issues without any hint at racial issues, whereas Pálsson tended to draw on public dis- courses on racial differences and “Nordic” people (for dis- cussions of similar themes in Denmark, Norway, and Sweden,

6. The earliest skeletal study of Icelanders involved the Stefansson collection at the Peabody Museum. The most detailed discussion the collection received was in a doctoral dissertation by Carl C. Seltzer, sub- mitted to Harvard University (Seltzer 1933), which dealt with the physical characteristics of Icelanders and their racial origins. Before Seltzer wrote his thesis, the collection gave rise to some speculation by Hooton con- cerning comparison of the physical characteristics of Icelanders and other peoples.

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S188 Current Anthropology Volume 53, Supplement 5, April 2012

see, e.g., Koch 1996; Kyllingstad 2012; and Pred 2000, re- spectively).

Jens Pálsson (no relation to me) partly studied in Germany, where he became affiliated with the Mainz Institute of An- thropology. In Mainz he not only found a place for his fas- cination with racial types but also received financial support. In particular, he was supported by Ilse Schwidetzky, head of the institute, who was keen to get access to Icelandic data. Despite skillful lobbying in Iceland, decades of data collection, teams of collaborators, and considerable national and inter- national funding, J. Pálsson’s legacy remains small. Thus, he never taught or mentored anybody to speak of. Also, his publication record was meager. Moreover, his text was devoid of theory, focusing on classification and catalogs in the fashion of German physical anthropology, particularly the Breslauer or Breslauer/Mainzer Schule (Preuß 2009:129). Perhaps he felt at the end of his career, at a time of rapid advances in human genetics, that his work was rather suddenly out of touch, a thought style that failed to sustain attention. Perhaps, too, he had also come to realize that the close connections to Schwidetzky and her entourage at Mainz, a branch of an- thropology that remained publicly implicated with the Nazi past, isolated him both internationally and at home. Schwi- detzky’s anthropology was firmly grounded in the measure- ments of the Breslauer/Mainzer Schule and the racial typology of Egon Freiherr von Eickstedts, the leading racial theorist of Nazi Germany (see Preuß 2009:132–134).

The establishment in 1966 of the Genetics Committee at the University of Iceland marked the local development of human genetics. The committee focused on “the recording in one place on punch cards various genetic information on Icelanders” (Genetics Committee of the University of Iceland 1974:2). The database of the genetic committee was an in- direct precursor to the key projects of deCODE genetics, its patient group studies, and its doomed plan for the Icelandic Health Sector Database proposed in 1998 for the purpose of advancing personal medicine (Pálsson 2007). The deCODE projects draw on the development of flexible interdisciplinary research teams, powerful genomic laboratories, bioinformatic frameworks, and digital genealogies, all of which have been involved in the making of deCODEme.

Biological anthropology arrived on the Icelandic scene with the doctoral work of Agnar Helgason at Oxford University. Since completing his doctorate—which explored the history of Icelanders from the time of settlement in the ninth century through mitochondrial DNA (mtDNA) sequences, Y-chro- mosome haplotypes, and genealogy (Helgason 2001)—Hel- gason has been employed by deCODE genetics, teaching at the same time in the Department of Anthropology at the University of Iceland. His work on a range of genomic pro- jects, including deCODEme (Helgason and Stefánsson 2010), illustrates the new networks and associations within which anthropology is currently embedded (Pálsson 2008), freely straddling between disciplines, fusing at the same time the practical, the theoretical, the local, and the global.

The deCODEme project is able to draw on several kinds of assets, in particular large-scale efforts over several years to discover the genetic factors involved in common diseases and extensive genomic anthropological work on human popula- tions and their migrations, ancestry, and mixing. All of this has been important for developing the analyses and interactive frameworks offered by deCODEme. The project now offers both a “complete” scan ($2,000) and two more narrow scans focusing on specific conditions: cancer ($500) and cardio- vascular problems ($500).

deCODEme: A Somewhat Personal Guided Tour

I signed up for the complete scan, curious to find out how anthropological expertise was implicated in the project, to explore the analyses it offers, and to see what the scan might tell me about myself and my roots. Two weeks after I sent my cheek swabs and the relevant forms, I received an e-mail from the company. The results were now available, and I would be able to access them through the password provided. Since then, I have regularly received messages from the com- pany alerting me to both updated and new conditions and to further analyses of traits and health risks. Once I logged on to see the results, I was urged to “have fun browsing [my] . . . genome,” “dig into [my] . . . DNA,” explore my ancestry and my “genetic risks,” play with maps and other visuals, search for specific genetic variants (SNPs or “snips”), and download my genotypes for 1.2 million SNPs (a 33-Mb data file).

The search for ancestry has six key features. The first, the “atlas,” provides a comparison of one’s genetic code with that of people from all over the world based on several hundred thousand genetic variants and more than 1,000 reference in- dividuals from 50 different populations worldwide (fig. 1). The atlas compares my genome with reference populations throughout the world, ranking regional clusters (1 to 6) in terms of their relevance for me, in the order of genetic sim- ilarity: Europe (1), Southwest Asia (2), East Asia (3), America (4), Oceania (5), and Africa (6). In each case, I can zoom in on the population involved.

My genome, not surprisingly, turned out to have most in common with European reference groups (a genetic similarity of 83.99%), in particular those of Iceland, the Orkney Islands, France, and Russia. More astonishingly, the second feature, “ancestral origins,” indicates that judging from chromosomes 1–22, my ancestry is no less than 7% East Asian, 16% ac- cording to the X chromosome, considerably higher than for most Icelanders. I found this an interesting and puzzling rev- elation. To speak of “genealogical dis-ease” (Rapp, Heath, and Taussig 2001)—to use a term developed by anthropologists studying what people make of genetic information about their roots and ancestry—would, however, be an overstatement.

The analysis of mtDNA establishes one’s place in a matri-

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Pálsson Anthropology and Personal Genomics S189

Figure 1. My genetic atlas (according to deCODEme 2009; http://www.decode

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