Ancestry Testing Research Articles

Awareness, use, motivations and methods of accessing genetic testing in 2022 in the United States

IntroductionAwareness, access, and use of clinical and direct-to-consumer (DTC) genetic tests has increased in recent years with documented disparities in these services. We provide updated data on test awareness and use, and report novel data on motivations and methods for accessing genetic tests.MethodsNationally representative data from the 2022 Health Information National Trends Survey (HINTS 6) were used to assess awareness and use of ancestry, personal trait, specific disease, and carrier testing by sociodemographic characteristics, examine reasons for undergoing tests, and methods of accessing them.ResultsOverall, 81.4% of respondents were aware and 40.0% had undergone testing. Only 10% of tests were ordered by genetic counselors, 80% of carrier and 65% of specific disease tests were ordered by other healthcare providers. Understanding family history was the most common reason for undergoing ancestry (72.2%) or personal trait tests (64.9%) whereas reasons such as doctor’s recommendation (53%–59%), learning more about disease risk (18%–50%), and carrier testing (76%) were common for undergoing disease risk tests and carrier tests. In contrast to ancestry, personal trait, and carrier testing, there were no racial, ethnic, income, or rural/urban difference in use of specific disease risk testing.DiscussionDiffusion of genetic tests into US society, although incremental, has made sizable increases in awareness, equitable use of specific disease tests but worsening socioeconomic inequality in DTC genetic test use. The study provides update on the state of genetic testing in the US and identifies groups that may need help accessing clinical genomic information and services.

DNA Identities: Narrative and Authority in Genetic Ancestry Performance on YouTube

Abstract The rise of direct-to-consumer genetic ancestry testing and social media technologies have converged to create a particular genre of vernacular identity performance: the genetic ancestry “reveal” on YouTube. This article seeks to understand these performances in relation to the authority that performers grant test results to inform racial and/or ethnic identities, how performers establish hierarchies of knowledge when family folklore and genetic test results collide, and what these performances reveal about conceptions of genetic determinism today.

“Shadowy Objects in Test Tubes”: Gene Fetishism and Racialized Biocapital in Kazuo Ishiguro’s Never Let Me Go

ABSTRACT This paper engages with the entwined questions of science and ideology through a symptomatic reading of Kazuo Ishiguro’s Never Let Me Go (2005), studying how power, racism, and capital intervene into the genetic enterprise of tampering with the limitations of the human and produce a supplicant race of clones for organ harvest and extraction. I commence by drawing on Donna Haraway’s concept of gene fetishism and Evelyn Fox Keller’s notion of gene talk to trace how an elision of the ideological frameworks of race and capital subtending genomics in Ishiguro’s dystopian world instrumentalizes the creation of the clones as racialized products. I bring into dialogue the clones’ obsessive quest for familial origins with Deborah Bolnick’s exploration of the reification of race as biology through ancestry tests to analyze how technology can be used to create and legitimize racism. Deploying Kaushik Sundar Rajan’s theorization of biocapital and James Doucet-Battle’s analysis of the intersections of race, capitalism, and time, I study how the clones are discursively defined as fungible commodities in service to a futurity from which they are precluded. I conclude by positing the call for “slow science” as a potential strategy against the accelerationism and market-ready speculations that dictate biotechnical enterprises today.

Genetic tests as the strongest motivator of cooperation between participants and biobanks-Findings from cross-sectional study.

The development of the scientific potential linked with biobanking and research on human biological material is highly dependent on the willingness of potential donors to cooperate with entities that collect the material. For this reason, it is crucial to identify the circumstances and factors that may encourage potential participants to donate their biological material. In particular, knowledge of the motivational factors that can be modified by the persons managing a biobank may prove notably important for shaping the organizational and communication policy of the biobank and other scientific institutions. The research was carried out on a group of 1,100 people over 18 years of age representing the adult population of Poland in 2021. More than half of the respondents declared their willingness to donate a blood sample for research purposes to a biobank (57.8%). The most often indicated incentives among the factors supporting the donation of biological material were offers of: obtaining the results of genetic tests predicting the risk of diseases (77.1%), blood tests (71.3%), the possibility of obtaining a small remuneration (64.6%) and the carrying out of genetic ancestry tests (60.4%). Offering the possibility of performing additional diagnostic tests, especially genetic tests, may significantly increase the willingness of potential donors to cooperate with biobanks and other entities collecting human biological material for the purpose of scientific research. However, attention should also be paid to the challenges and risks linked with respecting the privacy and autonomy of research participants.

Clinicians’ perspectives on race-specific guidelines for hypertensive treatment

Despite the general consensus that there is no biological basis to race, racial categorization is still used by clinicians to guide diagnosis and treatment plans for certain diseases. In medicine, race is commonly used as a rough proxy for unmeasured social, environmental, and genetic factors. The American College of Cardiology's Eighth Joint National Committee's (JNC 8) guidelines for the treatment of hypertension provide race-specific medication recommendations for Black versus non-Black patients, without strong evidence for race-specific physiological differences in drug response. Clinicians practicing family or geriatric medicine (n = 21) were shown a video of a mock hypertensive patient with genetic ancestry test results that could be viewed as discordant with their phenotype and self-identified race. After viewing the videos, we conducted in-depth interviews to examine how clinicians value and prioritize different cues about race -- namely genetic ancestry data, phenotypic appearance, and self-identified racial classifications – when making treatment decisions in the context of race-specific guidelines, particularly in situations when patients claim mixed-race or complex racial identities. Results indicate that clinicians inconsistently follow the race-specific guidelines for patients whose genetic ancestry test results do not match neatly with their self-identified race or phenotypic features. However, many clinicians also emphasized the importance of clinical experience, side effects, and other factors in their decision making. Clinicians' definitions of race, categorization of the patient's race, and prioritization of racial cues greatly varied. The existence of the race-specific guidelines clearly influences treatment decisions, even as clinicians' express uncertainty about how to incorporate consideration of a patient's genetic ancestry. In light of widespread debate about removal of race from medical diagnostics, researchers should revisit the clinical justification for maintaining these race-specific guidelines. Based on our findings and prior studies indicating a lack of convincing evidence for biological differences by race in medication response, we suggest removing race from the JNC 8 guidelines to avoid risk of perpetuating or exacerbating health disparities in hypertension.

Goffman against DNA: genetic stigma and the use of genetic ancestry tests by white nationalists

How do white nationalists use genetic ancestry tests? This article provides a qualitative analysis of posts from Stormfront, a white nationalist message board, to understand how white nationalists use genetic ancestry tests to advance ideological claims about the threat of genetic admixture. Starting in 2004, members of this message board began discussing the promises and pitfalls of using genetic ancestry tests to prove their whiteness. Using Goffman’s framework of stigma and impression management, we explore how they manage undesirable test results and genetic stigma amongst themselves – when they take genetic tests and discover they are partially non-white. Finally, this article looks at how they simultaneously deploy exclusionary or inclusionary strategies that challenge past concepts of whiteness built on the one-drop rule. Pragmatic concerns often drive their strategic positioning when confronted with undesirable test results, as they are aware that too strict exclusionary policies may impede the group’s demographical survival.

Finding your roots: Do DNA ancestry tests increase racial (in)tolerance?

While it is often assumed that Deoxyribonucleic acid (DNA) ancestry results illuminate one's true racial or ethnic lineage, the consequence of this inference remains largely unknown. This leaves two conflictual hypotheses largely untested: Do DNA ancestry tests increase racial tolerance or, alternatively, racial intolerance? Two multiwave experiments aimed to test these hypotheses using either real or bogus DNA ancestry results in combination with random assignment and a tightly controlled repeated-measurements experimental design. Bayesian and inferential analyses on both general and student populations of majority-group members in the United States (i.e., White/European Americans) indicated no support for either hypothesis on measures including multiculturalism, essentialism, and outgroup bias, even when moderating factors such as the degree of unexpected ancestry and genetic knowledge were considered. Despite wide societal optimism as well as concern, receiving DNA ancestry results appears not to impact feelings and attitudes about other racial and ethnic groups. Implications for prospective test-takers and education are discussed. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

A survey on awareness, knowledge and preferences toward genetic testing among the United States general public.

Aim: To understand awareness, knowledge and preferences regarding genetic testing among the USA general public. Methods: A cross-sectional online survey using a Qualtrics Panel. Results: Among 1600 respondents, 545 (34%) were White, 411 (26%) Black, 412 (26%) Hispanic or Latin(x)and 232 (15%) Asian. Most had heard of ancestry testing (87%) and genetic health risk testing (69%), but a third thought inherited genes were only a little or not at all responsible for obesity (36%) and mental health (33%). The majority preferred pre-emptive pharmacogenetic testing (n=74%) compared with reactive testing. Statistically significant differences between racial/ethnic groups and rural-urban respondents were observed. Conclusion: Most preferred pre-emptive pharmacogenetic testing; however, about one-quarter preferred reactive testing. Preferences should be discussed during patient-clinician interactions.

Trading In Our Lederhosen for Kilts

The popularity of direct-to-consumer genetic ancestry services has exploded over the past five years, with as many as 250 direct-to-consumer genetic ancestry testing companies currently operating and estimates that 1 in 5 Americans are customers of one or more of those companies. Marketing of genetic ancestry testing has consistently linked the results of DNA testing to a consumer’s racial and ethnic identity, and, because of that, can help consumers find out “who they really are.” We argue that the “biologization” of race and ethnicity promoted in such marketing violates norms of marketing ethics. In particular, we show that this marketing technique violates a number of the core commitments and values of the American Marketing Association Statement of Ethics.

Genetic Racialization: Ancestry Tests and the Reification of Race

Abstract While there has been a significant increase in the availability of DNA testing to identify one’s ancestry, we know little about the implications of these services for everyday social meanings of race and ethnicity. Scholarship about ancestry testing generally focuses on the significance of DNA testing for individual consumers who lack access to genealogical history, often due to systemic racism and inequality. Drawing on an analysis of over 400 videos uploaded by people who have utilized DNA testing kits to uncover their ancestry, this article focuses on how ancestry testing is mediated in the public sphere and its implications for social understandings of race and ethnicity. We find that consumers of DNA-based ancestry testing engage in what we term “genetic racialization,” in which they emphasize the primacy of science to uncover their ancestral connections, and, by extension, biologize notions of race and ethnicity and omit histories of colonialism and conquest in the social construction of race. The vocabulary of “blood” provides a key framework from which individuals interpret their ancestry results and implicitly draw on colonial frameworks of blood quantum and purity to define what it means to belong to particular racial and ethnic groups.

Genetic Options and Constraints: A Randomized Controlled Trial on How Genetic Ancestry Tests Affect Ethnic and Racial Identities

Genetic Options and Constraints: A Randomized Controlled Trial on How Genetic Ancestry Tests Affect Ethnic and Racial Identities

Ancestry testing of "Old Tom," a killer whale central to mutualistic interactions with human whalers.

Cooperative hunting between humans and killer whales (Orcinus orca) targeting baleen whales was reported in Eden, New South Wales, Australia, for almost a century. By 1928, whaling operations had ceased, and local killer whale sightings became scarce. A killer whale from the group, known as "Old Tom," washed up dead in 1930 and his skeleton was preserved. How these killer whales from Eden relate to other populations globally and whether their genetic descendants persist today remains unknown. We extracted and sequenced DNA from Old Tom using ancient DNA techniques. Genomic sequences were then compared with a global dataset of mitochondrial and nuclear genomes. Old Tom shared a most recent common ancestor with killer whales from Australasia, the North Atlantic, and the North Pacific, having the highest genetic similarity with contemporary New Zealand killer whales. However, much of the variation found in Old Tom's genome was not shared with these widespread populations, suggesting ancestral rather than ongoing gene flow. Our genetic comparisons also failed to find any clear descendants of Tom, raising the possibility of local extinction of this group. We integrated Traditional Custodian knowledge to recapture the events in Eden and recognize that Indigenous Australians initiated the relationship with the killer whales before European colonization and the advent of commercial whaling locally. This study rectifies discrepancies in local records and provides new insight into the origins of the killer whales in Eden and the history of Australasian killer whales.

Supplemental Material for Finding Your Roots: Do DNA Ancestry Tests Increase Racial (In)Tolerance?

Supplemental Material for Finding Your Roots: Do DNA Ancestry Tests Increase Racial (In)Tolerance?

Universal genome-wide association studies: Powerful joint ancestry and association testing

The vast majority of human populations and individuals have mixed ancestry. Consequently, adjustment for locus-specific ancestry is essential for genetic association studies. To empower association studies for all populations, it is necessary to integrate effects of locus-specific ancestry and genotype. We developed a joint test of ancestry and association that can be performed with summary statistics, is independent of study design, can take advantage of locus-specific ancestry effects to boost power in association testing, and can utilize association effects to fine map admixture peaks. We illustrate the test using the association between serum triglycerides and LPL. By combining data from African Americans, European Americans, and West Africans, we identify three conditionally independent variants with varying amounts of ancestrally differentiated allele frequencies. Using out-of-sample data, we demonstrate improved prediction achievable by accounting for multiple causal variants and locus-specific ancestry effects at a single locus.

The genetic legacy of African Americans from Catoctin Furnace.

Few African Americans have been able to trace family lineages back to ancestors who died before the 1870 United States Census, the first in which all Black people were listed by name. We analyzed 27 individuals from Maryland's Catoctin Furnace African American Cemetery (1774-1850), identifying 41,799 genetic relatives among consenting research participants in 23andMe, Inc.'s genetic database. One of the highest concentrations of close relatives is in Maryland, suggesting that descendants of the Catoctin individuals remain in the area. We find that many of the Catoctin individuals derived African ancestry from the Wolof or Kongo groups and European ancestry from Great Britain and Ireland. This study demonstrates the power of joint analysis of historical DNA and large datasets generated through direct-to-consumer ancestry testing.

Racial-Genomic Interest Convergence and the Geneticization of Black Families

ABSTRACT This study expands our understanding of how commercialized genomics shape communication about Black individuals and Black families. Using critical race theory (CRT), I explicate how genetic ancestry tests (GATs) are rooted in whiteness and seek to overdetermine Blackness. Focus group interviews, individual interviews, and media analysis reveal the converging interests of the GAT industry and Black GAT customers. I argue that our contemporary landscape is marked by racial-genomic interest convergence, which characterizes the codependency of Black customers and the GAT industry in ways that (re)construct Black families. I conclude by discussing implications for the industry and Black families.

P-565 Egg donor perceptions of anonymity and ancestry testing in the United States and Spain

Abstract Study question How do compensated egg donors in two different cultural and regulatory settings view anonymous donation and understand the implications of consumer ancestry testing? Summary answer Spanish and U.S. egg donors differ in their desire for anonymity, awareness of consumer ancestry testing, and the implications of ancestry testing for maintaining anonymity. What is known already In the literature, many have expressed concern that without the promise of anonymity people would be unwilling to donate eggs and sperm. A related concern is that the rise in consumer ancestry testing will mean the end of anonymous donation and therefore contribute to a reduction in donors. Study design, size, duration This is a mixed-methods study drawing upon surveys and interviews with oocyte donors in the United States (341) and Spain (126). The study was conducted between the years of 2018 and 2022 and included participants from multiple fertility clinics throughout Spain and the United States. Participants/materials, setting, methods This is a multi-sited study. Participants include current and former compensated oocyte donors who completed an online REDCap survey. Text boxes were provided in the survey so the participant could elaborate where appropriate. A subset of donors (200 U.S. and 76 Spain) in each location agreed to participate in a semi-structured, open-ended interview with one of the investigators. Interviews were conducted in person or over Zoom in the participant’s language of choice. Main results and the role of chance Of 341 U.S. respondents, nearly two-thirds (214, 63%) preferred that open or known donation rather than anonymous. Of the Spanish respondents, 38% stated they would prefer non-anonymous donation, 50% were unsure, and 11% stated they would not want non-anonymous donation. Both groups, 178 US (52%) and 57 Spain (51.4%), equally expressed a desire to someday meet the people born from their eggs or would be open to contact to share medical information. Of the U.S. donors, only 17 (5%) expressed a desire for no future contact with the people born from their donations, while 9 (8.7%) of the Spanish donors expressed desire for no future contact. U.S. donors were almost unanimously aware of the existence of consumer ancestry testing and 66 (19%) had attempted to use such tests to either find their donor-conceived offspring or make themselves available to be found. Among 111 Spanish respondents, 24 (21.6%) were not aware that consumer ancestry testing exists or that it could be used to find them, but 57 (51.35%) expressed a desire to be found if it were to become more widely used in Spain. Findings indicate that egg donors in both locations are mostly open to the idea of non-anonymous donation. Limitations, reasons for caution Study limitations include a potential bias in the survey sample as it is possible that people who participate in research might be more open than those who do not. We attempted to ameliorate this possibility by recruiting participants from a wide range of clinics, practices, and other sources. Wider implications of the findings Findings indicate that concerns surrounding the impact of consumer ancestry testing and the loss of anonymity for donors are overestimated. While there are cultural differences surrounding donation in the U.S. and Spain, assumptions surrounding oocyte donors’ desires for anonymity are not well-aligned with donor sentiments in either location. Trial registration number not applicable

Linking race and genes: racial conceptualization among genetic ancestry test-takers

ABSTRACT The genomic revolution is highly relevant to scholarship on racial conceptualization. As genomic research has increasingly focused on small amounts of variation between ancestral groups, it may promote beliefs in racial essentialism. Genetic ancestry tests (GATs) are one of the primary ways the consequences of the genomic revolution are communicated to laypersons, necessitating a better understanding of how test-takers conceptualize race. We analyse 108 in-depth interviews with U.S. and Canadian test-takers to examine how they conceptualize the relationship between race and genes and how they believe GATs influenced their race concepts. We present a typology of racial conceptualization that moves beyond a dichotomy and toward a continuum between social constructivism and genetic essentialism. We also find that test-takers believe GATs reinforce their pre-existing race concepts, regardless of what those were. Our results support an emerging view that people selectively interpret genetic information to confirm rather than transform their race concepts.

DNA Ancestry Testing and Racial Discourse in Higher Education: How the (Re)Biologization of Race (Un)Settles Monoracialism for Graduate Students

The recent proliferation of DNA testing in both popular culture and higher education calls to question whether such testing reifies race as a biological construct and, in particular, whether or not it disrupts or reinforces monoracial categorizations. Graduate students, who are often at a point in their educational journeys to further question and critique commonly held ideas, provide a unique lens through which to investigate discourses surrounding DNA testing. In this qualitative study, we analyze data from four focus groups with 22 racially diverse U.S. graduate students who had recently completed an ancestry test. We identify two specific discourses that graduate student participants engaged in, including (a) a biological race discourse and (b) an agentic choice discourse. Together, these discourses produced distinct unsettled subjectivities for Black and White participants. Our findings suggest the need to more critically consider the usage of DNA ancestry testing in and out of higher education and to provide further nuance around the validity of these tests as they relate to the social construction of race.

PGS-Explorer: A web-based meta-analysis tool for polygenic scores.

e13538 Background: In clinical cancer prevention, polygenic score models (PGS) have focused on the aggregation of effects from multiple genetic variants. PGS models have the power to inform the risk of developing specific traits, such as cancer. The PGS Catalog is an open repository of published models, which currently has 573 models for various types of cancers. Despite all the metadata provided, selecting an appropriate model to use in clinical applications is a challenging task. Here we present a methodology and platform to support decision-making on the selection of those models. Methods: We developed a web-based tool to explore and compare different models available in the PGS catalog. First, we performed data cleaning of all available metadata and loaded them into our platform. Our tool shows the evaluation metrics by performance, development method, ancestry, and covariates. Then, hypothesis generation can happen through the exploration of our visualization tool. Finally, we present the results for all cancer models in a systematic approach to identify best practices to follow. We focused on breast, prostate, lung and skin cancer models, evaluated with three metrics: AUC, Odds Ratio (OR), and Nagelkerke's Pseudo R²; in European ancestry testing sets. Results: Until Jan 2023, there were 254, 126, 124, and 42 models evaluated on European individuals for breast, skin, prostate, and lung cancer traits. Their average AUCs were 0.62, 0.66, 0.66, and 0.6, respectively. Not all models were evaluated for AUC, but it was the most frequently used metric. Meanwhile, their average OR was 1.47, 1.71, 1.3, and 1.43, respectively; and their average pseudo R² was 0.03, 0.08, 0.03, and 0.03 respectively. Regarding covariates, age, sex and principal components were significant to improve the accuracy of models across all cancer types. The best performing models for breast cancer were SNPnet, Lasso, and PRS-CS; for prostate cancer were SNPnet, PRS-CS, and GWAS-based selection; for lung cancer SNPnet, LASSO, and Prunning/Clumping and Thresholding; and for skin cancer, were SNPnet and GWAS-based selection. Conclusions: Our PGS explorer allows the identification of relevant characteristics for model selection. Prostate cancer models showed the best performance, and should be considered for prospective clinical validation. Models developed using SNPnet, LASSO, GWAS, and PRS-CS showed the best performance, but promising but barely used methods (e.g. LDpred2, PRSice-2, Elastic Net), should also be considered. Most models evaluated were trained using European cohorts, which limits the ability to estimate the accuracy of these models in other ancestries. We recommend strengthening the collection and further sequencing of multi-ethnic ancestries. In the future, a fair evaluation pipeline could shed more light about PGS performance. PGS Explorer is publicly available to the overall scientific community in our website ( pgs.amphorahealth.com ).