“Recreational genetics”, race and relatedness

Catherine Nash*

Genetic ancestry tests for sale

The technoscientific developments associated with genetics and the hopes and ethical concerns they entrain are not usually coupled with the term “recreational”. The pleasures of hobbies, pastimes and leisure pursuits seem far from the laboratories, research institutes, biomedical spaces, commercial enterprises and regulatory bodies of the world of molecular genetics. Yet the term “recreational genetics”, paraphrased from a recent review (1), names a field in which one strand of genetic science — population genetics — is being applied to a popular pursuit — genealogy or family history.

The growth of genealogy as a popular pursuit in the affluent developed world has coincided with the development of molecular genetics over the last few decades. According to advocates of the utility of genetics in genealogy is it now being “revolutionised” by science.

Over the last five years commercial companies have been established in the United States and the United Kingdom to sell customers genetic tests that will give them information about their personal genetic ancestry. To make these tests desirable commodities and create a culture of what is often described as “genetic genealogy”, but also as “anthrogenealogy” or “genetealogy” (2), most companies market their services as both a technologically assisted and a natural extension of popular genealogy. They argue that their genetic tests can overcome the frustrating dependence of genealogy on limited or non-existent documentary sources. Their tests, they suggest, serve customers’ “natural” interest in knowing more about personal family history. Their advertising appeals to a potentially huge customer base of people already “addicted” to genealogy and draws heavily on the cultural significance of origins and ancestry to personal and collective identities, especially in countries like Canada or the US founded on European settlement and shaped by subsequent immigration. “Personal interest genomics” is the term recently coined to describe the “personal or recreational use of genetic ancestry information” (3).

How does this “personal or recreational use of genetic ancestry information” have anything to do with race? The adjectives “personal” and “recreational” suggest that “genetic ancestry information” is simply personal, a matter of individual interest rather than about collective identities or group interests; that it is about play and pleasure rather than the politics of those identities and interests. The promotion of genetic tests in genealogy borrows on the largely positive associations of family history. Yet, in this new development in private sector science, genetics, with its own associations of scientific authority and eugenic history joins an already culturally and politically potent set of ideas about connection, differentiation and degrees of relatedness. Indeed, historically, genealogy has been as much about differentiation between people as about celebrating connections (4). The practice of using ancestry to both define a group and to rank its members in terms of special descent or pedigree extends to the scale of collective national or ethnic identities that are defined by and differentiated from other national or ethnic groups through ideas of shared descent, as well as shared language or culture. Furthermore, the history of the idea of race has involved different perspectives on whether humanity is best understood though a human family tree of distinct racial branches that were once joined but have evolved to be biologically distinctive, or whether it is more accurately described in terms of separate racial origins and lineages (5). Genealogy is as much about ideas of human origins and difference as it is about senses of personal identity and family history.

So in what ways is race present in “personal interest genomics”? How are relationships between ideas of genetic similarity, ethnic identity, racial origins, and human relatedness configured in attempts to make the results of these tests meaningful?

Markers and Matches

The companies involved have to work to make these tests meaningful because their results do not automatically mean much. Though they can tap the cultural significance of knowing where ancestors came from and new understandings of genes as fundamental to individual uniqueness, they also have to work hard to overcome the gap between the format of ancestral information in conventional genealogy and the format of this information in population genetics. The vital statistics in family history are the dates of birth, marriage and death of named dead relatives. In geneticised genealogy, the vital statistics are just statistics, numbers referring to markers on selected areas of particular segments of the customer’s DNA. On their own they mean virtually nothing. A customer who has bought the kit, done the cheek swab and sent it back will receive a set of numbers or codes that correspond to markers on selected regions of selected chromosomes. In “lineage based approaches” (6) these are the Y chromosome and mitochrondrial DNA (or mtDNA) for men and just mtDNA for women, whose variable regions are examined to detect distinctive forms that passed on directly from fathers to sons in the case of Y-chromosome tests and from a mother to her children in the case of mtDNA (7). As genetic tutorials on company websites explain, the mutations that occur over time in the Y chromosomes and mtDNA are passed on, so that those sharing the same pattern of markers, or haplotype, are judged to share direct maternal or paternal descent.

Yet, getting a list of coded markers still means little in isolation. Their significance is constructed comparatively. An individual’s results are compared with those of other customers, or searches will be conducted within geographically or ethnically coded databases for matches with the client’s results. In some cases, customers are invited to allow their results to be entered on the company database and to give permission for their details to be passed on to customers whose results match theirs. Companies like Family Tree DNA, which describes itself as the first and most popular genetic genealogy company, claim that the genetic tests will provide information on “ethnic and geographic origins” but leave it to the customers to work out the meaning of the matches with their “genetic cousins”. This is where questions of relatedness surface, since the tests are not just for personal genetic profiles (of a limited sort) but offer to supply information about genetic ancestral connections or similarities with other people. Several companies have set up email forums and accessible databases through which people can search for and contact those who match them genetically as a way of generating a sense of meaningful relatedness and social connection amongst people who share a distinctive haplotype that is in reality also shared with millions of others. These strategies make use of the meaning of genetic or biological connection in understandings of family relatedness even as they stretch the meaning of kinship.

Ethnic origins and racial percentages

But, often simultaneously, companies also make more direct claims to interpret the results in relation to ethnic ancestry or racial origins. Family Tree DNA, for example, also offers tests, “to check your Native-American or African Ancestry”. Its mtDNA test, it explains, is also able to indicate “which of the 5 major groups that settled in the Americans [sic] you are most likely to be descended from”. Men can buy Y chromosome tests to check for Jewish “Cohanim Ancestry” (8). The results of these tests are derived by comparing the customer’s Y chromosome or mtDNA type to databases of markers compiled by population geneticists surveying human genetic variation to identify the haplotypes associated with specific “populations” (9). These “populations” are often labelled in ethnic or racial terms. Alternatively, the Y chromosome or mtDNA patterns of a culturally defined group are examined to determine the most frequent and thus “typical” haplotype for that group. This Y chromosome or mtDNA pattern is taken to strand for the genetic ancestry of the group more widely. In both cases the sampling will screen out anyone who is thought not to be genetically typical of the group or who is assumed to be genetically “mixed”. This is an attempt to survey those who represent the group before modern migration resulted in what geneticists describe as “admixture”, but it evokes ideas and anxieties about purity and mixing that have been so much a part of racial thinking. This routine sampling strategy suggests an imaginative pre-modern geography of “races” in their natural places.

This may be intentional or not, since the way race figures in population genetics and genetic genealogy is both the result of geneticists’ intentions, and the inadvertent consequences of their work. Many geneticists defend their research by arguing that genetics disproves the idea of genetically discrete races. At the same time, many involved in surveying human genetic variation are happy to draw boundaries within graded patterns of genetic variation and name those “populations” according to race or ethnicity. For some, these racial or ethnic groups are natural entities; for other they are knowingly arbitrary groupings and convenient labels. Either way they can imply that ethnic or cultural groups have some natural basis in genetics or that races exist in nature. Though the best way to describe human genetic variation is intensely disputed in this field (10), there is a significant strand of research that is revitalising ideas of genetically identifiable racial groupings and justifying this work by the promise of racially sensitive pharmaceuticals and the identification of racially distinctive patterns of disease (11). Since these tests for “personalised genetic histories” (12) make use of ethnically or racially labelled databases produced by population geneticists, the conflation of ethnicity and genetics, and race and genetics within some strands of human population genetics is extended to popular genealogy.

For instance, offers of tests to determine whether customers have Native American, African or Jewish ancestry, are based on comparing the customer’s sample against a set of markers that have been taken to stand for broad or more differentiated groups. Customers with genetic markers that match the haplotype associated with a group are informed that this proves that they have Jewish or Native American ancestry. As critics have argued, this type of research collapses the complex ways in which group identities, boundaries and criteria of inclusion are defined, negotiated and contested into a simple assumption of genetic similarity (13). Company websites try to at least partially explain the statistical and genetic complexities of the tests but customers are not encouraged to question the assumption that racial or ethnic ancestry can be adequately tested in this way.

Nor are the limits of the methods made clear. A customer may be told that they have paternal or material African ancestry or told that their genes link them to a particular named group and region, but they are not alerted to the fact that their results are deeply dependent on the quality of the company’s database (and the resolution, geographical coverage, sample screening and delimiting of sample “population” in the survey or surveys that produced it), and the inexact nature of the science of statistics in population genetics that produces approximations with varied confidence levels rather than the definitive answers suggested in the marketing of the tests. Tests based on mtDNA or Y chromosome inheritance reduce the ancestry that genetically, and by implication, culturally counts in terms of senses of origins and ethnicity to direct maternal and paternal descent.

Other tests offer what seem to be more complex accounts of ancestry but do so through more explicit equations of race and genetics. One genetic testing service avoids this reliance on direct lineage but with similar or even more problematic implications for the geneticisation of race. Tests based on “bio-geographical ancestry analysis” (14) are on offer from DNAPrint genomics, Inc. These tests are based on using “ancestry informative markers” whose distribution, it is argued, reflect different “population groups” or “races”. These markers are then used to determine a customer’s “Bio-geographical Ancestry” (BGA):

“BGA estimates can also be understood as individual admixture proportions, which take the form of a series of percentages that add to 100%. For example, a person in question may be found to have: 75% European; 15% African; 10% Native American ancestry, or they may be found to have 100% European ancestry.” (15)

A test to estimate the proportions of East Asian, Native American, European, and African ancestry in a customer’s genetic profile reproduces old racial typologies of continental races even as it attempts to disentangle the effects of “admixture” (16). By deriving these “ancestry informative markers” from comparing the genetics of individuals who are taken to be of “unadmixed ancestry” DNAPrint genomics, uses the genetics of “pure” individuals to work out the mixture in the “mixed” and in doing so misrepresents genetic divergence due to geographical distance as differences between genetically distinct and original “populations”. As others have too, new terms such as “bio-geographical ancestry” or “population” may obliquely code or “race” or stand for new apparently enlightened versions of race that are unknowing loaded with old approaches to human difference.

Even if one wanted to grant science the authority to prove or disprove a category like race, the familiar claim by some geneticists that “genetics disproves race” seems weak in light of this reinstatement of old racial categories by others. Historically, people living in close proximity are more likely to be related to each other than those far apart, so that these bio-cultural groups are both genealogically connected and culturally defined within gradients of genetic difference. But equating culture, race and genetic similarity, and evoking ideas of original genetic purity and modern mixing, risks feeding accounts of the “inevitable” antipathies that result from the “unnatural” patterns of modern migration. It reinforces the idea that cultural groups correspond to natural affinities that themselves correspond to biological or genetic similarity. The claim that “genetics disproves race” seems even less adequate in light of the move by some genetic testing companies to offer customers genetic profiles in terms of percentages for different “bio-geographical” ancestries that are delineated according to old racial categories.

Genetic healing

But my concern about genetics in genealogy is not just with the most obvious ways in which ethnicity, race and genetics are correlated. It is also about ways in which race is used in the marketing of genetic tests, including its use by those who make the strongest statements that there “is no genetic basis for ethnicity or race” (17). The debates about the possibility and legitimacy of exploring the genetics of “race” in human population genetics are also reflected in different perspectives within geneticised genealogy. Those involved who espouse a liberal, anti-racist perspective distance themselves from the eugenic histories of genetics and repeat the genetic disproof of race. But they may also make use of histories of slavery and displacement in marketing their services as restoring lost knowledge of origins to those for whom slavery violently destroyed this ancestral history. In the UK and US companies have appealed directly to those for whom knowing where in Africa their slave ancestors came from is immensely significant to projects of historical and cultural recovery (18). Genetic origins testing is presented as a way of compensating for the trauma of loss and displacement. The potency of this for many involved makes it difficult to criticise this development. The political significance of acknowledging histories of slavery and racism, and a public culture of ethnic particularity, multicultural diversity and recognition of diasporic affiliations, effectively protects genetic testing companies offering tests for African ancestral locations, and the broader development of genetic genealogy, from criticism.

Nevertheless, their implications and limitations are being debated by consumers and by academic commentators (19). What are the effects of tests results on individual or collective identities? How do they confirm or disrupt existing senses of difference and connection? In what ways does their development reflect and effect the particular configurations of ethnicity, race and nation in different places? Who gets to decide on the explanatory authority or irrelevance of genetics in relation to group identities? (20) How will the apparently benign associations of genetic ancestry testing spill over and give support to the use of these tests for ethnic ancestry or for percentages of racial ancestry in legal cases concerning group membership or genetic forensics? How, in different contexts, could the language of genetic origins and genetic difference fuel ideas of natural nations of shared descent and unnatural immigration? The place of race in all this is not static or stable. Ideas of racial difference are differently figured across this field — sometimes deliberately avoided, sometimes unwittingly evoked, sometimes knowingly asserted — and differently aligned with ideas of biological or genetic difference with different social and political effects. Genetic genealogy may offer the pleasure of discovering genetic connections stretching across thousands of years and miles for some, but also have deep consequences for senses of shared identity and group membership for others. These questions suggest that if genetics in genealogy is recreational, then this is serious play.

*Catherine Nash is Reader in Human Geography in the Department of Geography, Queen Mary, University of London. Her research interests are in feminist cultural geography and in particular in questions of embodiment, identity and belonging. Her current research project “Genealogy and Genetics: Cultural Geography of Relatedness” is supported by an Economic and Social Research Council Research Fellowship (RES-000-27-0045).

References

(1) Shriver MD, Kittles RA. “Genetic ancestry and the search for personalized genetic histories”. Nature Reviews Genetics 2004; 5: 611-618, 615.

(2) Smolenyak M, Turner A. Trace your Roots with DNA. New York: Rodale Books, 2005. See Genetealogy.com [Online]. http://www.genetealogy.com/ (Accessed November 2, 2005).

(3) Shriver MD, Kittles RA. op. cit. supra note 1, p. 615.

(4) I discuss the relationships between popular genealogy and identity through the case of interests in “Irish roots” in Nash C. “Genealogical identities”. Environment and Planning D: Society and Space 2002; 20: 27-52.

(5) Marks J. Human Biodiversity: Genes, Race and History. New York: Aldine De Gruyter, 1995.

(6) Shriver MD, Kittles RA. op. cit. supra note 1, pp. 611-612.

(7) Men can explore both maternal and paternal descent through the mtDNA and Y-DNA tests. Women having two X chromosomes rather than the X and Y of men can only follow maternal descent but are sometimes encouraged to consider their father’s paternal lineage by having him or a brother tested, not that they actually inherit the chromosome that is being traced in this case.

(8) Family Tree DNA [Online]. http://www.familytreedna.com/description.html. (Accessed November 2, 2005). The test for “Cohanim Ancestry” is based on a study that claimed to have identified a Y-chromosomal type that predominated (at 54%) amongst Jewish men with the Cohen surname and which was then taken as the type for that group. See Marks J. “We’re going to tell these people who they really are: Science and relatedness”. In: Franklin S, McKinnon S (eds). Relative Values: Reconfiguring Kinship. Berkeley, Durham, NC: Duke University Press, 2001, p. 370 for a discussion of the methodological and conceptual problems of this research.

(9) Once geneticists have identified specific markers and published their maps of its distribution this information is then publicly available. Genetic genealogy companies, often working association with population geneticists, can then compile databases on markers and their geographies and relationships to named groups against which their customers’ results can be compared. This is paralleled by collective international scientific efforts to develop standardized nomenclatures for markers and their phylogenic relationships. See Y Chromosome Consortium. “A nomenclature system for the tree of the human Y-chromsomal binary haplogroups”. Genome Research 2002; 12: 339-348.

(10) For a review of current perspectives within the field of population genetics see Bamshad M, Wooding S, Salisbury BA, Claiborne SJ. “Deconstructing the relationship between race and genetics”. Nature Reviews Genetics 2004; 5: 598-609. For a set of critical commentaries on a recent claim that racial differences are genetically identifiable see Social Science Research Courncil. Is Race “Real”? A web forum organised by the Social Science Research Council [Online]. http://raceandgenomics.ssrc.org/ (Accessed November 2, 2005).

(11) Duster T. “Race and Reification in Science”. Science 2005; 307: 1050-1051.

(12) Shriver MD, Kittles RA. op. cit. supra note 1.

(13) Marks J. op. cit. supra note 5, pp. 355-383.

(14) Shriver MD, Kittles RA. op. cit. supra note 1, pp. 611-612.

(15) DNAPrint genomics Inc. [Online]. http://www.ancestrybydna.com/welcome/faq/#q1 (Accessed November 2, 2005).

(16) Bolnick DA. “Showing Who They Really Are”: Commercial Ventures in Genetic Genealogy [Online]. Paper presented at the American Anthropological Association Annual Meeting, November 22, 2003. http://shrn.stanford.edu/workshops/revisitingrace/Bolnick2003.doc (Accessed on November 2, 2005).

(17) Oxford Ancestors. Frequently Asked Questions: Can a DNA analysis identify my racial or ethnic background? [Online]. http://www.oxfordancestors.com/faqs.htm#2 (Accessed on November 2, 2005).

(18) I discuss the use of ideas of maternal femininity and paternal masculinity as well as ideas of cultural recovery in marketing genetic genealogy more fully in Nash C. “Genetic Kinship”. Cultural Studies 2004; 18: 1-33.

(19) See Elliott C, Brodwin P. “Identity and genetic ancestry tracing”. British Medical Journal 2002; 325: 1469-71; TallBear K. “Native American DNA: race, and the search for origins in molecular anthropology”. Science, Technology and Human Values (forthcoming); Tutton R. “They want to know where they came from: population genetics, identity, and family genealogy”. New Genetics and Society 2004; 23 (1): 105-120; and the special issue of Developing World Bioethics 2003, volume 3.

(20) Paul Brodwin explores this important ethical question in Brodwin P. “Genetics, identity, and the anthropology of essentialism”. Anthropological Quarterly 2002; 75: 323-330.