Genetic Ancestry Testing Research Articles

What’s at stake? Determining indigeneity in the era of DIY DNA

Social scientists have found that direct-to-consumer genetic ancestry testing can increase the influence of genetic notions of identity, but has a varying effect on test takers depending on the individual, social and political context. This paper considers the potential effects of genetic ancestry testing on the Indigenous peoples of Australia. We first review the effects of genetic ancestry testing in different populations, particularly Native Americans. We then draw on a comparative analysis of indigenous political structures in the United States and Australia in order to assess the likely impact of genetic ancestry testing in Australia in the coming years. The most salient point of difference is Australia’s relatively broader definition of Indigenous status. Due to this difference, genetic ancestry testing is likely to have minimal social impact among those who already identify as Indigenous, but may significantly impact those who discover genetic ancestry and do not yet identify as Indigenous.

The Rise and Fall of BritainsDNA: A Tale of Misleading Claims, Media Manipulation and Threats to Academic Freedom

Direct-to-consumer genetic ancestry testing is a new and growing industry that has gained widespread media coverage and public interest. Its scientific base is in the fields of population and evolutionary genetics and it has benefitted considerably from recent advances in rapid and cost-effective DNA typing technologies. There is a considerable body of scientific literature on the use of genetic data to make inferences about human population history, although publications on inferring the ancestry of specific individuals are rarer. Population geneticists have questioned the scientific validity of some population history inference approaches, particularly those of a more interpretative nature. These controversies have spilled over into commercial genetic ancestry testing, with some companies making sensational claims about their products. One such company—BritainsDNA—made a number of dubious claims both directly to its customers and in the media. Here we outline our scientific concerns, document the exchanges between us, BritainsDNA and the BBC, and discuss the issues raised about media promotion of commercial enterprises, academic freedom of expression, science and pseudoscience and the genetic ancestry testing industry. We provide a detailed account of this case as a resource for historians and sociologists of science, and to shape public understanding, media reporting and scientific scrutiny of the commercial use of population and evolutionary genetics.

Exploring your Inner Hades: DNA as Mortuary Archaeology

Two revolutions in using human genetics to investigate the past are beginning to have a profound effect on how the public regard heritage and their connection to it. Direct-to-consumer genetic ancestry tests (GATs) are becoming a popular way for the public to explore their familial history and ancestry. Major advances in ancient DNA methods mean that the field is beginning to live up to its early promise. Both of these analyses can be considered forms of public mortuary archaeology in how they are perceived to provide an individual an interface with their recent and more ancient ancestors, their own personal Hades, referring to the Ancient Greek home of the dead. GATs are useful for resolving genealogy and determining the origins of an individual’s recent ancestors, but have been criticized for reifying differences between populations, failing to give clear guidance on how they should be interpreted and making exaggerated links to historic groups of people that are at the heart of genetically determinist nationalistic origin myths. Recent palaeogenomic studies of prehistoric Europeans have found evidence for population discontinuity that will have repercussions for the public’s perception of archaeological mortuary sites and the communities who built them. Public archaeologists are going to have to engage increasingly with these types of data to combat the misappropriation of genetic results in defining rights and affinities to archaeological heritage.

Genetic Options: The Impact of Genetic Ancestry Testing on Consumers’ Racial and Ethnic Identities

The rapid growth of genetic ancestry testing has brought concerns that these tests will transform consumers’ racial and ethnic identities, producing “geneticized” identities determined by genetic knowledge. Drawing on 100 qualitative interviews with white, black, Hispanic/Latino, Asian, and Native Americans, the authors develop the genetic options theory to account for how genetic ancestry tests influence consumers’ ethnic and racial identities. The theory maintains that consumers do not accept the tests’ results as given but choose selectively from the estimates according to two mechanisms: their identity aspirations and social appraisals. Yet consumers’ prior racialization also influences their identity aspirations; white respondents aspired to new identities more readily and in substantively different ways. The authors’ findings suggest that genetic ancestry testing can reinforce race privilege among those who already experience it.

Genetic Ancestry Testing with Tribes: Ethics, Identity & Health Implications

Genetic ancestry tests have gained in popularity across the United States as more Americans seek answers about their ancestral past. The tests have been used to verify or dispute family stories about ancestors or to allow people to seek a sense of belonging with a particular tribe or community. They can also be useful in medical research to identify genetic variants across populations. At the same time, assumptions about genetic testing – and the very idea of a “genetic” identity – pose challenges for communities that are defined in terms of political, social, and cultural identities. This essay explores a range of uses of ancestry tests and their potential implications for Native American tribes and communities. It concludes that the scientific and recreational use of genetic ancestry testing continues to increase over time, but limitations of the consistency of results across platforms and the generalizability of knowledge remain.

Knowing something versus feeling different: the effects and non-effects of genetic ancestry on racial identity

Since the completion of the Human Genome Project, there have been pitched debates about its implications and the research it enables. One prominent thread of concern focuses on the role of post-genomic science on technically enabling and generating interest in genetic ancestry testing (GAT). Critical analyses of GAT have pointed to multiple issues, raising the alarm on consumers’ experiences with such technologies. This paper describes the results of a pilot study in which we tracked women’s experiences receiving their genetic ancestry results, and their understandings of, reactions to, and valuing of this information over time. Overwhelmingly, our participants reported a curious combination of anticipation and satisfaction yet no discernable impact on their sense of self or racial identity. We elaborate on the effects and non-effects of GAT for the women in our study, and how we make sense of their simultaneous experiences of ‘knowing something’ but not ‘feeling different.’

Biotechnology and Society: An Introduction by Hallam Stevens

Reviewed by: Biotechnology and Society: An Introduction by Hallam Stevens David F. Channell (bio) Biotechnology and Society: An Introduction. By Hallam Stevens. Chicago: University of Chicago Press, 2016. Pp. 352. Handcover $30. The book is a study of the relationship between biotechnology and society that portrays biotechnology as a sociotechnical system in which some elements are biological processes. It defines biotechnology as attempting to direct control over biological processes mostly at the molecular level. The book focuses on five themes: biotechnology is not new, but has a long history; biotechnology raises questions about the plasticity of life; biotechnology is a promissory science that is oriented toward the future, which requires analyzing it in terms of balancing future potentials with current realities; the controversial aspects of biotechnology need to be treated not [End Page 499] in terms of black and white answers, but in terms of cultural conflicts; and finally, biotechnology needs to be dealt with in terms of risks, which raises complex questions about the relationships between technical/scientific experts and the general public. The word "introduction" in the title indicates that the book is not a research monograph based on primary source materials aimed at specialized readers, but it is a broad introduction to the field aimed at a general audience. I think the book would be particularly useful as a textbook in an undergraduate course, although it might not find a wide use among historians of technology unless they were teaching a course focused on biotechnology or modern technology in general. There are a few references to nineteenth- and early twentieth-century historical roots of biotechnology, but most of the discussion focuses on the period after 1972. I do think the book would be excellent in an undergraduate STS course. In fact, I would go so far as to say that it should be required reading in STS programs, because of the wide range of issues that it brings up involving how technology interacts with society. It probably would not be as useful in a graduate level STS course since it does not address more advanced issues such as technoscience, post-academic science, post-normal science, the entrepreneurial university, Mode 1 vs. Mode 2 knowledge production, or the triple helix model of university-government-industry relationships. The main strength of the book is its broad coverage of developments concerning biotechnology and the thoughtful analysis of how these developments are just "as much products of society and culture as they are products of science and technology" (p. 286). Topics covered include the debates over owning and patenting life, genetically modified foods, eugenics, the human genome project, genetic testing, assisted reproductive technologies, stem cells, designer babies, and bioterrorism. Refreshingly, there's also a section on biotechnology and art. In all of these areas the author raises interesting questions of how scientific and technical developments in biotechnology engage important social and cultural issues, such as the economic and political divide between the rich and the poor, racial discrimination, privacy, and a new type of colonialism. In connecting scientific and technical advances in biotechnology to impacts on society and culture, the author often raises a series of provocative questions rather than making arguments in favor of or against particular developments. This approach makes the book especially useful as a text, since I could see the questions in each chapter generating significant class discussion. While the author does not provide pat answers to issues raised by biotechnology, there is a clear bias that the market and commercialization play an important role in the development of biotechnologies, which leads to the reinforcement of the economic and political divide between the rich and the poor in the Western world and reinforces the divide between Western cultural values by helping to establish a biocolonialism [End Page 500] and encouraging a kind of bioprospecting that exploits some the resources of the non-Western world. Even with these issues the author is not polemical but again raises thoughtful questions, such as how a Native American might see genetic ancestry testing as a challenge to traditional values and origin stories. In this and many other ways, the book raises important questions concerning the relationship between biotechnology and society. David...

A New Research Agenda for the Study of Genetic Ancestry Tests and the Formation of Racial and Ethnic Identities and Ancestries

This paper sets out a new research agenda for the study of family historians’ (referred to as ‘genealogists’) use of genetic ancestry tests in the course of their family history research in postcolonial Britain. My focus is upon the ways in which the use of these tests shapes the formation of genealogists’ ethnic, racial, national, class and gender identities and their ancestries. I argue that, while there is some significant and important work on the ways in which African Americans and white Americans deploy these tests to trace their family histories, there is little comparable work in the context of postcolonial Britain. Drawing on sociological, anthropological and geographical research on identity, genetic ancestry testing and family history research, I set out some of the theoretical issues that research in this area in Britain should address, and outline possible methodologies and methods that will serve to bridge this gap in the current literature on race, ethnicity, identity and genealogy.

When Markers Meet Marketing: Ethnicity, Race, Hybridity, and Kinship in Genetic Genealogy Television Advertising

The essay explores issues pertaining to genetics vs. culture in understandings of kinship, hybridity as a disruptor of essentialist conceptions of race, the fetishization of ethnicity and culture, racist misuses of genetic science, processes of racialization, and counter-hegemonic resistance. Thirty- and sixty-second television advertisements airing in the U.S. from the 23andMe and AncestryDNA genetic genealogy testing services are analyzed in this context. The investigation demonstrates that genetic ancestry testing providers are well aware that their enterprise is premised on belief in the superiority of biological kinship and that hybridity is mobilized primarily as a marketing opportunity with ethnic components signified in shorthand by fetishized objects. Moreover, the categories of race and ethnicity presented in the ads give cover to racist abusers of genetic science, as the ads are consistent with socially constructed racial classifications. While maintaining this consistency, the categories are subject to adjustment based on the expectations of consumers. Resistance is possible in the use of genetic ancestry by descendants of African slaves to make localized connections to Africa, something that conventional genealogy seldom provides.

Barriers and Strategies Related to Qualitative Research on Genetic Ancestry Testing in Indigenous Communities.

Conducting genetics-related research with populations that have historically experienced considerable harm and little benefit from genetics research poses unique challenges for understanding community-based perceptions of new genetic technologies. This article identifies challenges and strategies for collecting qualitative data on the perceptions of direct-to-consumer (DTC) Genetic Ancestry tests (GAT) among diverse Indigenous communities. Based on a 3-year project related to perceptions, attitudes, and values associated with genetic ancestry testing among diverse Indigenous communities in Oklahoma, the engagement process revealed specific opportunities to improve the process of qualitative data collection related to GAT, and more broadly, to conduct genetics-related research with Indigenous communities in culturally and methodologically appropriate ways. Priority areas include issues related to participant recruitment and tribal advisory boards, challenges of self-identification as a recruitment mechanism, and the necessity of including Indigenous researchers in all aspects of the research process.

Paternity testing under the cloak of recreational genetics.

Direct-to-consumer (DTC) internet companies are selling widely advertised and highly popular genetic ancestry tests to the broad public. These tests are often classified as falling within the scope of so-called 'recreational genetics', but little is known about the impact of using these services. In this study, a particular focus is whether minors (and under what conditions) should be able to participate in the use of these DTC tests. Current ancestry tests are easily able to reveal whether participants are related and can, therefore, also reveal misattributed paternity, with implications for the minors and adults involved in the testing. We analysed the publicly available privacy policies and terms of services of 43 DTC genetic ancestry companies to assess whether minors are able to participate in testing DTC genetic ancestry, and also whether and how companies ethically account for the potential of paternity inference. Our results indicated that the majority of DTC genetic ancestry testing companies do not specifically address whether minors are able to participate in testing. Furthermore, the majority of the policies and terms of services fail to mention the vulnerability of minors and family members in receiving unexpected information, in particular, in relation to (misattributed) paternity. Therefore, recreational genetics carries both the risk of unintentionally revealing misidentified paternity, and also the risk that fathers will deliberately use these services to test their children's paternity without revealing their intentions to the mother or any other third party.

Genetic Ancestry using Mitochondrial DNA in patients with Triple-negative breast cancer (GAMiT study).

Triple-negative breast cancer (TNBC) lacks estrogen, progesterone, and human epidermal growth factor receptor 2 (HER2)/neu receptors, and is aggressive and therapeutically challenging. Genetic ancestry testing is an emerging medical field. Mitochondrial DNA (mtDNA), which is distinct from nuclear DNA, is maternally inherited and allows for origin determination. Patients with TNBC tend to be younger and are more likely to be African American, making this an ideal disease for mtDNA exploration. To the authors' knowledge, the current study is the first to perform mtDNA for self-described African American, White, and Hispanic patients with TNBC to identify mtDNA patterns. Patients with TNBC who were at any stage of therapy/survivorship were included. Self-reported ethnicity was confirmed at the time of the prospective buccal swab. Haplogroup prediction was performed on sequencing of hypervariable region 1. Using sequence similarity scores and lineage databases, sequence patterns were determined. Data regarding presentation and treatment, tumor features, and outcomes was collected. A total of 92 patients were included: 31 self-described African American, 31 White, and 30 Hispanic individuals. Hispanic patients were found to have the largest tumor size (4.5 cm; P = .01) and youngest age (41 years; P<.0001). Eight patients were BRCA1/2 mutation carriers. There were no differences noted among groups with regard to surgery, lymph node metastases, or survival. Analysis revealed Nigerian, Cameroon, or Sierra Leone ancestry and haplogroups A, U, H, or B to be the most common mtDNA patterns. Twelve discordances (13%) between mtDNA analysis and self-described ethnicity were identified among the 92 patients. The highest discordance (26%; 8 patients) was noted in self-described Hispanic patients: 3 had Nigerian ancestry, and 1 individual demonstrated haplogroup K mtDNA (Ashkenazi Jewish ancestry). Discordance between self-reported ethnicity and mtDNA analysis was identified in 13% of patients with TNBC. The identification of mtDNA patterns with a predisposition toward TNBC may allow for risk stratification. Cancer 2017;107-113. © 2016 American Cancer Society.

A Postapartheid Genome

This article examines a genetic ancestry testing program called the Living History Project (LHP) that was jointly organized by a nonprofit educational institute and a for-profit genealogy company in South Africa. It charts the precise mechanisms by which the LHP sought to shape a postapartheid genome through antiracist commitments aimed at contesting histories of colonial and apartheid rule in varied ways. In particular, it focuses on several tensions that emerged within three modes of material-discursive practice within the production of the LHP: subject recruitment, informed consent, and participant reflections. In the end, it argues that several contradictory tensions were central to the making of the LHP’s postapartheid genome and that it should be understood as nonracial rather than antiracist.

Race, Genetics, Medicine and the Museum

The natural history museum has long been invested in educating the public about what it means to be human, including human identity, human ancestry and human diversity. With the recent scientific advances in human genomic research and the public fervor for individual genetic ancestry testing, the museum is now challenged both to keep pace with current scientific research and wrestle with popular scientific thinking that circulates outside the museum. This article considers several strategies that the American Museum of Natural History Museum has used to intervene in public perceptions of “race”, genetics and human health through critical interactive dialogue—the museum as a space for audiences of various ages to investigate and interrogate the science and politics of human identity that accompany this new genetic frontier.

In the blood: the myth and reality of genetic markers of identity

ABSTRACTThe differences between copies of the human genome are very small, but tend to cluster in different populations. So, despite the fact that low inter-population differentiation does not support a biological definition of races statistical methods are nonetheless claimed to be able to predict successfully the population of origin of a DNA sample. Such methods are employed in commercial genetic ancestry tests, and particular genetic signatures, often in the male-specific Y-chromosome or maternally-inherited mitochondrial DNA, have become widely identified with particular ancestral or existing groups, such as Vikings, Jews, or Zulus. Here, we provide a primer on genetics, and describe how genetic markers have become associated with particular groups. We describe the conflict between population genetics and individual-based genetics and the pitfalls of over-simplistic genetic interpretations, arguing that although the tests themselves are reliable, the interpretations are unreliable and strongly influenced by cultural and other social forces.

Becoming a Viking: DNA testing, genetic ancestry and placeholder identity

ABSTRACTA consensus has developed among social and biological scientists around the problematic nature of genetic ancestry testing, specifically that its popularity will lead to greater genetic essentialism in social identities. Many of these arguments assume a relatively uncritical engagement with DNA, under ‘high-stakes’ conditions. We suggest that in a biosocial society, more pervasive ‘low-stakes’ engagement is more likely. Through qualitative interviews with participants in a study of the genetic legacy of the Vikings in Northern England, we investigate how genetic ancestry results are discursively worked through. The identities formed in ‘becoming a Viking’ through DNA are characterized by fluidity and reflexivity, rather than essentialism. DNA results are woven into a wider narrative of selfhood relating to the past, the value of which lies in its potential to be passed on within families. While not unproblematic, the relatively banal nature of such narratives within contemporary society is characteristic of the ‘biosociable’.

The Emperor’s New Genes

This article addresses the politics of genomics through three diagnoses: The first, diagnosing objectivity, discusses how researchers involved in a large-scale population mapping initiative distinguish genomics as relatively objective, compared to other forms of knowledge production. The second case, diagnosing nationality, examines an attempt by the UK Border Agency to use genetic ancestry testing to vet asylum claims. The third case, diagnosing indigeneity, considers how indigenous councils in southern Africa engage genomic science in their struggle for state recognition and rights. I argue that genomics’ allure of objectivity lends itself to such diagnostic attempts among both powerful and subaltern social actors and suggest that developing “technologies of humility” may provide one safeguard against the increasing uptake of genomics as the authority on human difference.

Mitochondrial Eve and the Affective Politics of Human Ancestry

AbstractThis article explores a scientific technology—mitochondrial analysis—that underlies contemporary technoscientific phenomena such as genetic ancestry tests, ethnic diversity projects, and national genome projects. The article focuses on the figure of “Mitochondrial Eve,” the most recent common matrilineal ancestor of modern humans, who lived in Africa a few hundred thousand years ago. Introduced by Rebecca Cann, Mark Stoneking, and Allan Wilson in 1987, Mitochondrial Eve became the object of an intense scientific and cultural debate, appearing in numerous journal articles and on the cover of Newsweek magazine, as well as in media commentaries on gender roles and popular culture. Through a critical reading of the press coverage of the mitochondrial debate between 1987 and 2000, this article explores an evolving set of cultural emotions, including hope, celebration, suspicion, and anxiety that shaped the idea of human ancestry during the debate. The article argues that the introduction of “Y-chromoso...

Geographic population structure analysis of worldwide human populations infers their biogeographical origins.

The search for a method that utilizes biological information to predict humans’ place of origin has occupied scientists for millennia. Over the past four decades, scientists have employed genetic data in an effort to achieve this goal but with limited success. While biogeographical algorithms using next-generation sequencing data have achieved an accuracy of 700 km in Europe, they were inaccurate elsewhere. Here we describe the Geographic Population Structure (GPS) algorithm and demonstrate its accuracy with three data sets using 40,000–130,000 SNPs. GPS placed 83% of worldwide individuals in their country of origin. Applied to over 200 Sardinians villagers, GPS placed a quarter of them in their villages and most of the rest within 50 km of their villages. GPS’s accuracy and power to infer the biogeography of worldwide individuals down to their country or, in some cases, village, of origin, underscores the promise of admixture-based methods for biogeography and has ramifications for genetic ancestry testing.

The Continuing Significance of Race

While most scientists of the twentieth century argued for understanding race as a social construction, this understanding has shifted considerably in the past decade. In the current era, biological notions of race have resurfaced not only in the scientific community but in the form of direct consumer use of DNA tests for genetic ancestry testing, sometimes referred to as genetic genealogy, and the emergence of pharmacogenomics, or the marketing of race-specific pharmaceuticals. In this article, I argue that the return of race as a biological concept in the form of racial genomics can best be understood through an application of Blumer’s race as group position theory. Using that, I argue that during the past 20 years, four specific challenges to the racial hierarchy have emerged that have threatened white dominance: the original interpretation of the Human Genome Project results declaring humans to be 99.9 percent similar, thus, dispelling the idea that race has a genetic basis, the electoral wins of President Barack Obama and the ensuing rhetoric that America is a “postracial” society, and finally, the increase in interracial relationships and biracial/multiracial identities. The emergence of racial genomics, I argue, is a response to these specific threats to the racial hierarchy and to white dominance.