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

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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.decodeme.com/). A color version of this figure is available in the online edition of Current Anthropology.

lineal family tree spanning 170,000 years. It turns out I belong to “mitogroup R*,” a category shared by 4.8% of deCODEme users, all of whom can trace their mtDNA to a woman thought to have lived about 60,000 years ago, probably somewhere in the Near East. The analysis of my paternal DNA, on the other hand, shows that I belong to “Y-group R1a,” a category shared with 10.3% of deCODEme users tracing their Y chromosome back to one man who is thought to have lived about 10,000 to 15,000 years ago, probably in Western Asia.

A further feature allows users to explore their “map of kinship,” a visual representation of genetic space on the basis of principal component analysis. Given this evidence, I occupy a somewhat marginal position, neither firmly within the Eu- ropean reference group nor any of the others, probably re- flecting the puzzling observation mentioned above about my East Asian ancestry. The final feature allows the user to com- pare his or her genome with that of a reference individual from any of the populations included in the data set.

The other main service offered by deCODEme is that of analyzing the genome with respect to specific traits and health risks. For some weeks I resisted the lure of the health results. Both of my parents had struggled with cancer, and I was not that interested in the kind of fortune telling offered by per- sonal genomics. I guess news of the New York spit party helped to change my mind. Somehow, collective spitting ap- pealed to the anthropologist curious about the social life of DNA and the implications of the new genetics in the modern age. My results for the 47 diseases and traits currently covered

are based on calculations comparing my genome to sequences of participants in studies published in the scholarly literature. To access results for some diseases, I was invited to read about the genetic and medical details and to sign a statement about informed consent by clicking on “Accept.” I need not bore the reader with the personal details. Suffice it to say that some of the information provided sounds trivial (no alcohol flush reaction), some of it resonates with what I thought I already knew (I am less likely than the general population “to become nicotine dependent [15% or less]”), some results are en- couraging (I have low lifetime risk for some diseases, much less than for males of European ancestry in general), and some details may promote the hypochondriac in me to request further medical information (my risks for some diseases are slightly higher than those of my genetically significant others). When presented with these results, I was offered details on the mathematics of risk analysis. Also, I was invited to zoom in on my genomic landscape, focusing on a part of a chro- mosome and the location of specific mutations reportedly responsible for potential traits or diseases. Again, there are some surprises and some food for thought.

The Genome Browser of deCODEme allows users to com- pare their complete data with friends and family. While my reference group of friends and family includes both hypo- chondriacs and anthropologists, so far they have seen few good reasons to participate and, as a result, there is not much to compare. The Web site, however, allowed me to examine my genetic sharing with “famous” people. Here, sharing is

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S190 Current Anthropology Volume 53, Supplement 5, April 2012

indicated visually by the coloring of the relevant bits of the chromosomes. No doubt personal genomics is becoming both a family affair and a global concern. At any rate, a thriving imagined community of the users of personal genomics pro- jects has been developing on the Internet.

Cyberspace: The Experts and the Rest

A number of Web sites testify to a lively discourse on the issues involved, including thinkgene.com, dna-forums.org, Eye on DNA,7 Urban Semiotics, and Dienekes’ Anthropology Blog. The last one is “dedicated to human population genetics, physical anthropology, archaeology, and history.” Judging from these Web sites, there is more interest in exploring an- cestry than health risks. Perhaps users are reluctant to reveal their health risks in public, although they may be keen to download the relevant information for their own purposes. Some of the Web sites referred to are focused on specific personal genomics projects while others are more general. Users engage with the goals of personal genomics, analyses of their own genome, and comments expressed through the expanding virtual community of the Internet.

Often, users comment on each others’ roots and genetic identification, usually identifying themselves by first names or nicknames. In World Families Forum,8 one user offers the following statement, referring to one of Sykes’s seven daugh- ters of Eve, Ursula: “Both my wife and I are U5a1a (Clan Ursula) members and on my Y side I am an R1b1c. We believe we are part of the Vandals, Visigoths, and the Normans groups of people who settled in Sicily—who were ancient Vikings/ Scandinavians.” Another user responds: “Some information about your R1b1c. . . . It is unlikely that it is of Viking descent. More likely it originated in western Russia.” In some cases, users deliberately request advice or interpretation: “This is a nice website and I have enjoyed it. I have recently had my mtDNA tested and have been identified as a U5 (weak match). Can anyone please tell me what the ‘weak match’ means? I thought a match was a match. Thanks bunches!!”

Clearly, this is a biosocial community in the making, social networks based on identification with genomic characteris- tics. A certain “countess” comments (New Unofficial Ox- ford Ancestors), “I just found out that I am a daughter of Ulrike. Wow, how amazing to feel this connection to the past. . . . My ancestry is almost all British Isles, but I didn’t know we were descended from Vikings!”9 Another user, “PDHOTLEN,” reported after “psyching” himself or herself to have the results of a mtDNA test: “My results (U5) say that my maternal ancestors were responsible for the demise of the Neanderthals in Europe. . . . Does anyone out there have a similar mtDNA?” Soon there was a response: “I also

7. http://www.eyeondna.com (accessed December 10, 2008). 8. http://www.worldfamilies.net/forum/index.php (accessed Decem-

ber 10, 2008). 9. http://www.familydna.co.uk (accessed December 10, 2008).

have U5, but my ancestors were probably not among the cave decorating Cro-Magnons. They are the Saami people up in the northwestern corner of Europe. . . . Getting the results from the genetic tests has made me a hobby genealogist and with good helpers I have been able to trace some Saami rel- atives back to the beginning of 1600.”10

While many users become knowledgeable and skillful read- ers of genomic texts in the process of blogging, sometimes the technical jargon becomes overpowering, reaffirming the dividing line between experts and lay persons. Consider the following exchange.

Didier: The problem with the shorthand naming is that you

lose contact with the subgrouping. Only those familiar with

R1b haplogroups would know that R-U106 is distinct of R-

U152, R-SRY2627, R-L21 because those last 3 are P312�

while U106 is P312�. I would favor a simplified nomen-

clature. . . . The others are cryptic, very interesting for the

specialist (those of us discussing these issues are specialists)

but very confusing for non-specialists.

Banks: It appears to me that you specialists will be preach-

ing to the choir because the congregation (non-specialists)

will be long lost in a state of utter confusion. . . . I have

no knowledge of the “longhand” let alone the shorthand of

DNA classifications. I only recently learned to spell hap-

lotype.11

Occasionally, renowned experts drop in to offer a point of view or to clarify some issue. At one point it seems that James D. Watson, who shared a Nobel Prize for unraveling the struc- ture of DNA, entered the scene, to underline the reliability of the testing provided by personal genomics: “It is important to note that no one is questioning the accuracy of the actual sequencing behind these services”; immediately, there was a respectful response from “docduke”: “If that last post was by James D. Watson, I would like to take this opportunity (if you check back), to thank you for your candid, and honest, statements here as elsewhere. Intellectual honesty is becoming altogether too rare in public scientific discussions these days!”12

Quite possibly, the name “docduke” suggests that the blog- ger’s point in referring to “candid, and honest, statements” is primarily to show support implicitly of Watson’s statement in the Times of London about race, genetics, and the intel- ligence of many Africans: “All our social policies are based on the fact that their intelligence is the same as ours—whereas all the testing says not really” (Watson 2007). Because Wat- son’s own genome is online, his ancestry is open for scrutiny. Exploring the data, Stefánsson at deCODE genetics and his team concluded, with a hint of irony, that whatever Watson

10. http://www.familytreedna.com (accessed December 18, 2008). 11. http://www.worldfamilies.net/forum/index.php (accessed Decem-

ber 10, 2008). 12. http://blogs.chron.com (accessed December 19, 2008).

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Pálsson Anthropology and Personal Genomics S191

may think of black Africans, 16% of his own genes probably come from black ancestors.13

Some bloggers take a playful attitude to genome testing. One woman who had her husband “tested” for fun was ques- tioned about her ethics.

Megan: I admit it. I have no self-discipline when it comes

to genetic genealogy. When deCODEme was launched, I

had to be one of the first in line to get tested. So I ordered

. . . and received results . . . my husband’s results, that is.

I thought this might be a little more interesting since he

sports a Y chromosome.

Marie: Did you get your husband’s permission before

using his DNA? . . . How does he feel about you sharing

his results with the world?

Megan: Yes, rest assured, I checked with him several times

just to be sure.14

Sometimes people check whether they are being cheated by genomic services. One blogger claimed to know of “at least one case . . . where a customer deliberately submitted a dog’s DNA just to ‘test’ the company. He was willing to pay for his little experiment, and yes, the company figured out exactly what had happened!” Sometimes users subscribe to two or more services to compare their usefulness and explore their methods and reliability.

I tested for both 23andMe and deCODEme. I just received

my 23andMe results and I am quite surprised by the ad-

mixture test named Ancestry Painting. Indeed, I am half

Berber, half French (E3b1b-M81, MtDnapI) but my

23andMe results showed 100% European (African and Asian

p 0%) whereas my deCODEme results showed 81% Eu-

ropean, 13% African ancestry and 6% Asian. . . . Do you

know if these very different results can be because of dif-

ferent method used between 23andMe and deCODEme?15

Concerned more with estimates of health risks than an- cestry, Francis Collins, director of the U.S. National Institutes of Health, caused some stir in 2009 by announcing that he had signed up for several personal genomics services under a false name, comparing and testing their prognoses. While sequence-wise, he concluded, the tests appeared to be “highly accurate,” the final risk score varied from case to case: “one company used 5 single nucleotide polymorphisms, or SNPs, to calculate risk for a particular disease, pronouncing Collins at low risk. Another used 10 SNPs, placing him at high risk, and the third used 15, concluding that he is at average risk.”16

It seems that the virtual community of genetic citizens is actively debating and negotiating roots, identities, and health risks by fusing the expertise of geneticists and nonprofes-

13. http://abcnews.go.com/blogs/technology/2007/12/the-genome-of- j/ (accessed December 10, 2007).

14. http://rootstelevision.com/blogs (accessed December 19, 2008). 15. http://dienekes.blogspot.com/ (accessed December 8, 2008). 16. http://scienceblogs.com/geneticfuture/, June 2009 (accessed May

5, 2011).

sionals for the purpose of scrutinizing SNPs and comparing haplotypes (McGuire et al. 2009). To some extent, however, the experts and the public engage in separate conversations. Nevertheless, representing just a tip of a rapidly expanding iceberg, the preceding excerpts from the Internet give some idea of the discursive community involved, the relations es- tablished, and the concerns people have.

Technologies of the Self: From Genome to Identity

In some of his last writings, Foucault (1988) shifted his at- tention from systems of domination to the agency and ex- perience of the individual, drawing attention to the particular kind of subjectivity characteristic for the modern age and what he called “technologies of the self.” It seems reasonable to argue that personal genomics represent one example of tech- nologies of the self (Hacking 2006). Indeed, the genomics of ancestry is often assumed to provide an important avenue into identity and personhood. As Pinker (2009) observes, “Affordable genotyping may offer new kinds of answers to the question ‘Who am I?’—our ruminations about our an- cestry, our vulnerabilities, our character and our choices in life.” Significantly, Sykes’s book on ancestry (2001), which opens with the question “Where do I come from?” closes with a chapter titled “A Sense of Self.” This point is also underlined by Anne Wojcicki, the cofounder of 23andMe; the 600,000 genetic markers interpreted by 23andMe, she argues, are “the digital manifestation of you” (Hamilton 2008). Knowing where we come from, we apparently also know who we are.

Not only is there a growing popular literature that equates human beings with their genomes (Angrist 2010), this is also a theme explored in endless blogs on the Web sites mentioned above. One of the relevant statements suggests, in a somewhat humorous tone, that DNA “speaks” to its host.

I received my DNA results earlier this year and was surprised

to find myself in clan Ulrike. I have traced six generations

of maternal ancestors in the Beds/Northants borders region.

The Viking invaders did travel into this area. . . . I have

always been attracted to northern wilderness and have vis-

ited Alaska, Greenland/Iceland and Siberia. Is this my DNA

speaking?!17 (Emphasis added)

DNA, then, from the past tends to be seen as an avenue into the future, our essence and fate.

Battaglia (1995) suggests an “approach to selfhood as em- bodied and historically situated practical knowledge,” which in her view “prompts a larger question of rhetoric, namely, what use a particular notion of self has for someone or for some collectivity” (3). Given such an approach, an important theme on the anthropological agenda is to explore the rhetoric of personal genomics and the pragmatic uses of genetic no- tions of self for the actors involved (see, e.g., Gibbon and

17. http://www.familydna.co.uk (accessed December 10, 2008).

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S192 Current Anthropology Volume 53, Supplement 5, April 2012

Novas 2008). Nowadays, with personal genomics, the collec- tion and analysis of DNA is closely linked to commercial marketing of identity, including “race.” Anxious to explore the unique signatures of their genomes and to care for their selves and their bodies, people are buying in rather than being solicited or tracked down. In the process, they facilitate the construction of gigantic DNA assemblies, coproducing knowl- edge of genomic differences.

The companies involved in personal genomics suggest that their services facilitate the “democratization” of genomic knowledge, emphasizing consumers’ relative independence of the medical establishment. Thus, the claim by deCODEme: “We wanted not only to empower the public, but also to give students, academics, physicians and other professions with an interest in genetics a chance to get a more in-depth view of their code and genome.”18 Indeed, as we have seen, users draw their own conclusions and sometimes engage in dialogues with genomic experts, becoming experts themselves in the process (see, e.g., Heath, Rapp, and Taussig 2004; Lee and Crawley 2009). In a sense, then, this is science from below (Harding 2008). One example is SNPedia. Drawing on sum- maries of peer-reviewed papers presumed to be relevant for given genomic data, it allows users of different testing services to pool personal data, to learn more about their own geno- types, and to explore the effects of variations in DNA. A growing literature empirically explores the extent to which personal genomics facilitates changes in lifestyle in terms of health, diet, and exercise (see, e.g., Bloss, Schork, and Topol 2011); so far, the results are not that convincing.

Spitting and Snipping: Biosocial Relations of Production

No doubt, personal genomics of the kind discussed here in- volve an element of empowerment. Some qualifications, how- ever, are needed. Prainsack et al. (Prainsack et al. 2008) argue that while relaxing the genetic protectionism rampant in re- cent decades may be a good thing, giving people an oppor- tunity to become active governors of their genomes, the ar- guments about individual freedom, informed choices, and the unregulated genomic marketplace should be taken with a grain of salt. For one thing, they disguise the fact “that per- sonal genomics is pushing the individualization of respon- sibilities one step further” (Prainsack et al. 2008:34). An- thropology can play an important role on this front by exploring what such individualization means and what people expect from genomics, providing “thick” descriptions (see, e.g., Browner and Preloran 2010; Nelson 2008; Santos et al. 2009).

Another qualification relating to the agency of the users of genomics services is also essential; this concerns the labor they perform for personal genomics services rather than their

18. http://www.decodeme.com/ (accessed March 10, 2009).

opportunity to comment, interpret, and engage in a dialogue on methods and results. It is pertinent to broaden the notion of the biosocial in order to highlight biosocial relations of production, the labor processes and hierarchies associated with emergent biocapital (Pálsson 2009a). To what extent do genomic services engage the bodies and labor power of their “consumers” in biosocial relations and hierarchies? The spokespersons for 23andMe, unlike most of the other projects, have been quite open about the issue of alternative uses of their data. Wojcicki suggests signing up for 23andMe is “a great way for individuals to be involved in the research world. . . . You will have a profile, and something almost like a ribbon marking participation in these different research papers. It will be like, ‘How many Nature articles have you been part of?’”19 This is highlighted in a comment on one of the Web sites: “23andMe will be sitting in one of the largest genetic databases on Earth. And there’s no opting out.”20 Drawing on her work on 23andMe, Levina (2010) argues that “life in the network society requires of its denizens a constant con- tribution to the growth of the network” (2).

Arguably, then, the people contributing cheek swabs to personal genomics services are engaging in a labor process that ultimately results in large-scale biobanking. deCODEme is part and parcel of its mother company deCODE genetics, whose purpose is to advance biomedical research and phar- maceutical development. Although the company seems to have no plans to directly draw on its personal genomics data in its biomedical research, a closer integration might take place later on. The kind of personal medicine pioneered by deCODE genetics and similar companies has suffered serious setbacks as the promised medical results have largely failed to materialize. While knowledge of the human genome and human variation has been significantly advanced, so far there is not much to sell.

Whatever their current ambitions, personal genomics pro- jects are likely to connect with larger biomedical projects in the future. Given the possibility of hacking genomic data (Aldhouse and Reilly 2009), the clients of personal genomics companies may eventually be contributing to projects beyond the awareness and control of the services they have contracted. Leaving aside somewhat marginal cases of legal violation, the financial and technical links between 23andMe and Google may be indicative of new hybrid forms of biobanking and bioinformatics that fundamentally change the rules of the game. These developments necessarily invite pressing ethical questions. While the original phase of sampling may have respected community concerns and standard procedures of informed consent, such concerns and procedures may later on, during the phase of large-scale banking, become mean-

19. “23andMe’s mission: connecting all people on the DNA level or social networking XY.0.” http://venturebeat.com/2007/11/19/23andme- will-the-personal-genomics-company-need-big-pharma-to-make- money/. November 19, 2007.

20. http://venturebeat.com (accessed December 10, 2008).

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Pálsson Anthropology and Personal Genomics S193

ingless and ineffective. Much depends on governance struc- tures and the designs of the assemblies involved. Personal genomics needs not be the patient-centered medicine con- sumers are often promised (Brody 2009, chap. 3).

The possibility of linking a variety of scattered biomedical databases is not that remote. Thanks to the development of bioinformatics and the Internet, it is no longer necessary, or even feasible, to assume a central “hub” with monopoly of access. Already, there is much talk of “federated” databases; such databases “are a more complicated solution in terms of the required technologies, but they bring certain advantages that cannot be endowed by a centralized database” (Thoris- son, Muilu, and Brookes 2009:13). Record details from remote sources may now be directly searchable by other computers taking part in federation. Spitting and snipping, after all, is biosocial work, potentially contributing to the global networks and hierarchies involved in the manufacture of biovalue.

Concluding Remarks

The image and the report in the New York Times regarding the launching of 23andMe draws attention to the role of metaphors. Metaphors, just like DNA, frequently undergo mutations, recombining available material from everyday lan- guage and experience. Like life itself, social discourse generates new frameworks in the process of its unfolding. The notion of the “spitting image” is a case in point (Pálsson 2009b). While 23andMe is probably the only personal genomics pro- ject that uses “spittoon” samples and the others seem generally to draw on buccal swabs, the “Spit Party” nicely captures various aspects of personal genomics and the gene talk on which it is based, the mechanisms of inheritance, the image of the double helix, the matching or mismatching disclosed through the sequencing of DNA material, and the establishing of distance and ancestry, both genetic and social. When spit- ting out one’s saliva, one is presumed to provide a spitting image of oneself encoded in DNA. It is important to keep in mind, however, that the genome is not just a personal issue but also a matter of cultural identity and “ethnic” belonging. Genome researchers have repeatedly been painfully reminded that for some “native” groups the human genome is primarily a sacred phenomenon. To the extent that these groups de- scribe the genome as a “resource,” it is cultural capital, in- tangible property that is inseparable from the cultural mean- ings that it represents, that needs to be collectively guarded.

As we have seen, there is a rapidly growing interest in personal genomics for the purpose of reconstructing our past and celebrating our emerging biosociality and for managing our lives and our future. Day by day, the companies involved offer additional services on their Web sites, further details on diseases and traits, higher resolutions of data, and more pow- erful machines, diagnostic chips, visual presentations, and in- teractive features. Anthropology is implicated in these devel-

opments at several levels, contributing to the key data sets employed on human history and variability.

Several personal genomics services provide information on both ancestry and health risks. For consumers, it seems, the former kind of information, the extraction of history from what Zuckerkandl called molecular “semantides” (see Sommer 2008:506), usually involves a fair amount of play- fulness, sometimes with undertones on identity, race, and networking, while the latter is inevitably associated with se- rious issues relating to medicine and lifestyle. Explorations of ancestry and health risks, however, overlap, enmeshing users in new biosocial relations and networks. One may wonder whether the relative importance of the two kinds of services may not be considerably altered in the near future.

There are serious anthropological and philosophical doubts about important issues relating to ancestry, including the shape of the family tree, the validity of the molecular-clock hypothesis, and the sampling of populations (Bolnick et al. 2007; Gannett 2003; Marks 2008b). Analyses of ancestry in personal genomics services, however, are likely to remain more or less intact, partly because there is not so much at stake and, in any case, it is largely play. Studies of the genomics of diseases, in contrast, are riddled with contests, doubts, and conflict. Most common diseases, it seems, are only minimally explained by genetic factors, and in each case a great number of genes is likely to be involved. Last but not least, there is growing evidence for the importance of epigenetic factors beyond the simple concept of DNA sequence. Prainsack et al. express some of the doubts: “Personal-genomics customers are already going through a process of disenchantment: it is increasingly clear how little power SNP-based readouts of a person’s ‘genotype’ offer for predicting future ailments in an individual” (Prainsack et al. 2008:35).

Given the evidence and the growing public awareness of it (see, e.g., Hall 2009), why would people bother to consult their health risks with personal genomics services? The hype has, indeed, faded a bit, and some of the key players, in particular deCODE genetics and 23andMe, have experienced financial difficulties. There may be good grounds, however, for arguing that personal genomics will continue to thrive. While deCODE genetics filed for bankruptcy in November 2009, it was quickly refinanced and restructured, and de- CODEme is still in operation. It seems unlikely that the nar- cissistic pleasures involved in the exploration of ancestry and the genetics of health risks are withering away, given the cen- tral place of the human body in late modernity. Also, there are immense financial stakes and concerns on the global level for biotechnical and pharmaceutical companies. Moreover, the quality, magnitude, and comprehensiveness of knowledge can only increase with time. The power of computing ma- chinery continues to expand, and cheap complete sequencing is within reach. As a result, one may expect personal genomics projects to expand, realigning experts and consumers, insti- tutions and disciplines, including genomic anthropology.

The narcissistic pleasures of late modernity are reaching

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S194 Current Anthropology Volume 53, Supplement 5, April 2012

new levels that neither Lasch (1979) nor Foucault (1988) could anticipate. Personal genomics is just one example. An- other example, perhaps, is the use of humans as model or- ganisms in biological experimenting, as human cellular ma- terial replaces that of mice and fruit flies, a point emphasized by Rheinberger (2009): “Many experiments are now being carried out with human cells directly. . . . With man becoming, in a sense, a model organism of his own, ‘modeling’ inevitably takes on the meaning and the form of human modification” (8). One suspects this significant shift will have profound implications for anthropology and its understanding of the species and its variability, although the terrain is just begin- ning to be explored.

In recent years, the notion of the tree of life—a central notion for Darwin, Linnaeus, and much of biological thought since their time—has been seriously challenged by a strange mix of scholars such as W. Ford Doolittle, Tim Ingold, Mar- ilyn Strathern, Gilles Deleuze, and Félix Guattari. For one thing, it has been reasoned, the tree of life might turn out to be a net or a rhizome, with endless reconnections rather than treelike bifurcation. While it is possible that theoretical chal- lenges to the tree model and the empirical evidence available only minimally blur the main picture, simply shaking the tree a bit, they raise fundamental questions as to what should count as relatedness. Why, indeed, Helmreich (2009) wonders, should we stick with reductionist gene talk? In the current age of biosociality, life has become increasingly disembodied, cultured, informatic, and rewritable.

Just as the history of physical anthropology and the bone collectors of the last century coalesced at a measuring party, the saga of modern biological anthropology and personal ge- nomics coalesces at a spit party. In some respect, the two parties are rather different. Thus, whereas at the former case, research subjects were tracked down for measurements, often in the context of a colonial hierarchy, in the latter case, sub- jects offer themselves for the project in the hope that they may, in the process, discover and take care of their selves and bodies. This underlines radically different biosocial relations of production. The measuring party and the spit party, how- ever, have one serious flaw in common, namely, the subtext of human variation, “race,” and the presumed split between the biological and the social. After all, “biology” and “society” are not separate realities or categories of being. Human var- iation, including that identified as “race,” is a thoroughly relational, biosocial state of affairs, collective history embod- ied in the habitus. Theodosius Dobzhansky once remarked that “nothing in biology makes sense except in the light of evolution” (Smocovitis 2012). Given the deliberate conflation of the biological and the social in the wake of the new genetics, the human configuring of life itself, and the advancing evi- dence on epigenetics and developmental systems (Griffiths and Gray 1998), it would be more appropriate, twisting Dob- zhansky a bit, to state that nothing in biology makes sense anyway, except in the light of the irreducible unity of the biological and the social.

The big challenge for anthropology now is to realign the biological and the social on new terms in a nonreductionist fashion. We can continue to craft our professional selves on two different tracks and to practice the study of anthropos as if it involved the investigation of two radically separated do- mains, defending the subdisciplinary boundaries as if they were engraved in our subjects, but it would be both ethno- centric and out of time. It is time to rethink the field on the assumption that Homo sapiens is an undivided being and that decoding it—to the extent that the language of “decoding” is the appropriate one—requires integrative perspectives that in the absence of a better nondualistic language resonate with our biosocial natureculture. This will not be easy, but it is the only meaningful way to go.

Acknowledgments

The study on which this article is based has been funded by the University of Iceland and the Icelandic Center for Re- search (Rannı́s). I thank Carole H. Browner (University of California, Los Angeles), Barbara Prainsack (King’s College, London), and Halldór Stefánsson (European Molecular Bi- ology Organization, Heidelberg) for their careful reading of a draft. Also, I thank Sigrı́ður Sunna Ebenersersdóttir for locating some of the sources I use on public discussions and responses to personal genomics. Finally, I thank the editors, an external reviewer, and the workshop discussants and par- ticipants for excellent comments.

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Read Carefully:

The final project has two parts. The project is due on Day 7 of Week 7 (A hard deadline!). Late submission is not allowed or accepted before prior approval from the instructor. If approval is allowed, there will be substantial points/percentage deduction. 

Part I:

You currently work as a Marketing Director for Ascend Home Care. This private home health company offers nursing care and physical therapy services to the elderly residents of a medium-sized city with about 500,000 people. The neighboring town (Happy Land), with a population of 100.000 people, is about 40 miles away and has a much smaller community. However, as the population ages, this town is seeing an increase in retirees. The chief executive officer (CEO) of Ascend Home Care has decided that it would be beneficial to expand into this town by opening a satellite office. He is eager to be the first home health company to open a physical office in this new territory and has tasked you with developing a marketing plan. You have been asked to provide an executive marketing plan report to the management team.

The Executive Report needs to explain how the following will be used in your marketing plan:

· The company's historical resident trends and current strategic plan

· Demographic data

· Quality standards, policies, and procedures

· Marketplace analysis, including competition

· Models and best practices for reaching the target audience

· Developing recommendations to ensure alignment with company strategy

· Writing the plan and setting expectations.

· Implementing the plan and proven best practices for implementation

· Tools for evaluating and monitoring the plan

The summary should be 10-15 content pages, not including the title page and reference page, and include at least 15 scholarly references, including at least 10) current peer-reviewed articles published in the last five years. The use of APA 7th formatting is required.

Part II:

Impressed with your Executive Report from last week, the chief executive officer (CEO) for Ascend Home Care would like you to market it across the region. The goal is to build a stronger relationship with the physician community and expand a broader reach to the community.

The first step is to analyze and research the changing community and develop a marketing campaign for your boss, the director of development, on how to best connect with the community of Happy Land and increase referrals from New City Home Care.

For this assignment, develop an innovative marketing campaign on the above scenario that includes the following elements:

· Define the target audience, determine the marketing objectives, determine resource requirements, define how the marketing message will be delivered through integrated marketing communication, specify the media plan, and discuss how the marketing campaign will be evaluated.

· Evaluate the potential impact of the expanded facility on patient satisfaction and develop a new marketing share.

· Assess possible methods to build rapport within Happy Land and surrounding communities.

· Provide details on how ongoing research into the community will help New City Home Care stay ahead of the competition and well-connected with the community. Consider concepts in monitoring the changing demographics of the community and the growing healthcare sector.

The campaign plan should be 14-16 ppt—slides, not including title and references slides. Speaker notes of 100 – 150 words in each content slide are required. Adding audio over ppt. is highly recommended. Include at least 10 scholarly references, including at least five (5) peer-reviewed articles published in the last five years. The use of APA formatting is required.

Reading Terms and Questions

Decode Me! Anthropology and Personal Genomics (Gílsi Pálsson)

Pálsson

Terms

23andMe

deCODE genetics

Biosocial

Personal genomics

Biovalue

Ernest Albert Hooton

Thought styles

Geneological dis-ease

Technologies of the self

Questions

1. How does Pálsson explain the connections between understanding of self, personhood, and ancestry? How does personal genomics fit in?

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

3. What did Pálsson learn and feel when he did his genetic scan and got his results?

4. How are online biosocial communities focused on ancestry and genetics transforming the relationship between scientific experts and lay people?

5. What are some of the economic and ethical dimensions of personal genomics that Pálsson presents? Can you think of others?

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