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Your genes and you: Examining the effect of direct-to-consumer genetic testing visualizations on conceptions of identity

By Adyasha Padhi, Biochemistry & Molecular Biology and Sociocultural Anthropology ’25

Author’s Note: I wrote this paper for my ANT 109: Visualization in Science Course and we chose a specific visualization and entity connected to it to focus on. 23&Me has always been a company that has interested me and in looking deeper into their business practices, I think that it’s really important that we consider how our identities and our perception of our identity has changed, especially in the 21st century.

Introduction
In recent years, direct-to-consumer (DTC) genetic testing has become widespread, and with it, consumers have had more access to our genetic code than ever before in human history. More than 26 million people—roughly 8% of the US population—have taken at-home DNA tests and as a multi-billion dollar industry, the DTC market is rapidly becoming more widespread. 23&Me, a personal genomics and biotech company based in California, was the first company to begin offering autosomal genetic testing for ancestry, and remains a giant in the field, becoming near ubiquitous in the market of DTC and the minds of many consumers. 

23&Me, as they say on their website, aims to provide its customers “DNA testing with the most comprehensive DNA breakdown,” allowing them to “know [their] personal story, in a whole new way.” For consumers who are typically not geneticists themselves, this analysis and breakdown of their DNA is what they are primarily looking for, expecting to receive information on what their genes mean from their ancestry to health. The interpretation and visualization of DNA test results are what nearly all companies operate as their main product and selling point, more specifically, the idea that they can provide the consumer with a way to know themselves better and understand their ancestry and family history on a deeper level. 

Because of this, the way that companies create and present this genetic information is paramount to understanding the ways that DTC impacts consumers and the wider society’s conception of ancestry and identity. This review will look at a specific case study of 23&Me’s “Ancestry Composition” visualization, looking into how it is created, interacted with, and what it communicates about ancestry and identity, examining the broader impact of quantitative tools on personal/community identity and how the way our genes impact us on both a biological level and on how our understanding of genes and genetics influences the way that we move through the world.

23&Me’s “Ancestry Composition” Visualization:

Figure 1: A sample “Ancestry Composition” report from 23&Me’s website

23&Me’s “Ancestry Composition” visualization is typical of similar genetic ancestry results in the field and is composed of 3 main parts: a pie-chart representing the consumer’s percent ancestry, a list breaking down those percentages by world region, then by ethnicity or nationality country/ethnic group, and then a map that illustrates the different regions of the world in different colors depending on the ancestry found. This iconography dominates most visual communication about ancestry in this day and age with the rise of DTC. 

First, it is important to understand what DNA is. Deoxyribonucleic acid, or DNA for short, is a complex molecule that contains genetic information for the development and functioning of an organism, acting as the hereditary material in nearly all organisms through sequences of nucleotides. DNA in a sense acts as the blueprint that an organism’s cells use to create more cells, growing from a single cell to a fetus and eventually a full human being. As hereditary material, genes are passed from parents to their biological offspring and the complete set of genes or genetic material present in a cell or organism is known as the genome, with genes being organized into chromosomes. DNA that codes for functional molecules called proteins is the most commonly known, however, so-called coding DNA only makes up a tiny percentage of the total genome, only about 1-5%, with the rest composed of non-coding regions. In addition, genetic material is constantly changing through not only mutations but also epigenetic changes. These modify chemical marks on the DNA called the epigenome and change how genes are expressed, and consequently the phenotype of a person, without altering the genetic sequence itself. In some cases, epigenetic changes can be inherited such as through the germ-line transmission of altered epigenomes between generations in the absence of continued environmental exposures (Nilsson 2015).  As such, analyzing and drawing conclusions from DNA is a complex process and is not as simple as it may seem. 

23&Me goes through a process to take the DNA sample that the consumer provides into a visualization that is accessible to the consumer, translating DNA into ancestry information that they can understand. 23&Me specifically analyzes your DNA by looking for specific genetic variants across your entire genome including autosomal DNA, sex chromosomes, and mitochondrial DNA (mtDNA). The locations in the genome that vary from person to person are called single nucleotide polymorphisms (SNPs for short), with different versions of SNPs called alleles. Everyone carries two alleles at most SNPs, one allele from each parent, and while each single-nucleotide polymorphism only contains a small amount of information, by combining events across many SNPs, their algorithm can develop a picture of your genetic ancestry. It is not the SNPs themselves, but instead their variation over time in populations that can be used to map human migration, isolation, and population development (Henn  2012). As such, ethnicities can’t be determined simply by single genes. 

There are six main steps that 23&Me goes through when determining ancestry composition and creating this visualization: preparing for genotyping (amplifying the DNA from the provided sample), training the artificial intelligence algorithms using reference data sets, phasing and determining which genetic information was inherited together on the same chromosome, estimating ancestry for each window of the genome, smoothing window assignments (making adjustments so that the result is more cohesive and understandable), and calibrating and returning the results to the individual in the form of the “Ancestry Composition” visualization (Durand 2021).

Social context of direct-to-consumer genetic ancestry tests 

DTC genetic testing addresses a series of existing social desires with new technological means, particularly combining the modern enthusiasm for science with primal interests in asserting the “natural” of one’s identity and postmodern emphasis on radical individualism (Lang and Winkler 2021). Being just among the latest of ways that we as humans have tried to understand our relationships with others, looking into its history can lend insight into the practice in its current form. Throughout history, ancestry has been used to solidify relations and thus power in many societies, such as hierarchical monarchies or caste systems (Lang and Winkler 2021). Biological relations allow membership into communities and into structures of power, so being able to prove ancestry and have a record of ancestry in some way has been important. Fundamentally, as humans, we have always been trying to make sense of ourselves and the world around us.

However, with this desire to organize the world, structures of power and groups who want power arise; the easiest way to gain power is by dividing people up and creating hierarchies. This is where movements such as racism, eugenics, and other movements serve as justification for dehumanization and violence, creating system-driven violence that cannot be easily dismantled as the violence is no longer individual-to-individual but part of a wider pattern of systemic violence. This includes historical slavery, colonialism, and recent racially motivated violence.  

Impact of DTC on the social construction of Ancestry & Identity 

To understand the impact of DTC on consumer identity, we can start by examining the sociotechnical architecture of 23&Me. The products and visualizations created by DTC companies are often structured in such a way that the user is not provided with sufficient context to understand the results that they receive. As seen in the sample results, there is limited information provided on the most prominent consumer-facing pages, with the results pages primarily showing simply a percentage of the consumer’s DNA associated with a certain heritage. This can be attributed in part to the sociotechnical architecture of 23&Me’s consumer-facing information architecture and UX design more generally. In a similar way that a building’s architecture is an organization of materials and components that together define the building, the sociotechnical architecture of the technology explores how the way that a technology’s technical aspects (its physical system and the task it aims to do) interacts with the social aspects (the structure and organization and how it impacts people cognitively and socially). 

While they do disclose the difficulty with quantifying ancestry, their marketing and product presentation do not do enough to recognize the broader socio-cultural and historical context of which they are a part of. Furthermore, compared to similar companies, 23&Me provides as much raw information to its consumers as possible and builds off the idea that a user possesses the expertise and autonomy to determine the reliability/utility of test results presented to them. This absolves them from the responsibility of misinterpretation, which downplays the difficulty of understanding SNP test results (Parthasarathy 2010). As a whole, by presenting the consumer’s results in a very quantitative manner, and pushing these ideas in their marketing while not providing much information in an accessible way near these results, 23&Me’s products can push onto its customers a genetic essentialist bias, cognitive biases arising from exposure to beliefs that genes are relevant for behavior, condition, and social grouping (Dar-Nimrod & Heine 2011). This  leads to the erroneous perception that conditions associated with genetic attributions are more immutable, determined, homogenous, and natural. 

Another core aspect of this process is its pool of reference genotypes that are used at multiple points throughout the process of visualization production. The groups that are most represented in these reference genotypes are people of European ancestry (Wapner 2020).  This is for a range of reasons, one being structures of power that have allowed those populations to have access to those resources and thus their ancestry records and methods of ancestry remembrance preserved. The data and information that these tests provide is not trivial, especially when it comes to 23&Me’s other half, health genetic testing. Therefore, marginalized groups should have more accessibility, representation, and thus accurate utilization of these tools, though it is also important to recognize the flaws in this system and not blindly encourage individuals to seek out giving their data to these companies without understanding the full picture. There are also no genes specifically associated with specific ethnic groups. 

More broadly, research investigating the impact of genetic ancestry tests on racial essentialism found that while there was no significant average effect of genetic testing on views of racial essentialism, there were significant differences between individuals with high genetic knowledge versus individuals with the least genetic knowledge. Roth found that “essentialist beliefs significantly declined after testing among individuals with high genetic knowledge, but increased among those with the least genetic knowledge”, and also found that this trend was not impacted by the specific genetic ancestry found, demonstrating that this difference was due to different understanding of genetics (Roth 2020).  Recognizing that those who have the least genetic knowledge are those who are most likely to develop essentialist beliefs demonstrates how important it is that education about the process behind genetic testing and how the results are generated is easily accessible and should be more prominent in DTC companies’ products and marketing. 

Conclusion 

As direct-to-consumer genetic testing becomes more and more prevalent, it is impacting the way that we communicate about and conceptualize ancestry, promoting the construction of essentialist identities through the process of DTC genetic ancestry testing, from the marketing to the final visualization. The impacts of this push disproportionately affect individuals of marginalized communities within wider society and increased education about genetics and how these systems work is essential to combating essentialism, both within the companies themselves and the wider society.

Works Referenced

News Articles: 

  1. Bahrampour, Tara. “They considered themselves white, but DNA tests told a more complex story.” The Washington Post, 6 February 2018, https://www.washingtonpost.com/local/social-issues/they-considered-themselves-white-but-dna-tests-told-a-more-complex-story/2018/02/06/16215d1a-e181-11e7-8679-a9728984779c_story.html.
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Scientific Articles: 

  1. Bryc, Katazyna, et al. “The Genetic Ancestry of African Americans, Latinos, and European Americans across the United States.” AJHG, vol. 96, no. 1, 2015, pp. 37-53, https://www.cell.com/ajhg/fulltext/S0002-9297(14)00476-5.
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Documentaries: 

  1. DNA Testing: The Promise & the Peril. Performance by Scott Wapner, 2020, https://www.peacocktv.com/watch/asset/tv/dna-testing-the-promise-and-the-peril/55fc9111-fb6e-399f-a921-5c036dfe54f3?orig_ref=https://www.google.com/.
  2. “Identity | Tribeca.” Tribeca Film Festival, https://tribecafilm.com/studios/identity-short-film-series.
  3. Gray, Edward. “Secrets in our DNA | NOVA.” PBS, 13 January 2021, https://www.pbs.org/wgbh/nova/video/secrets-in-our-dna/. 

STS Articles: 

  1. Abel, Sarah. “Reading DNA ancestry portraits against the grain.” Slaveries and Post-Slaveries, 2020, https://journals.openedition.org/slaveries/2343.
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  8. Montagu, MF Ashely. “THE CONCEPT OF RACE IN THE HUMAN SPECIES IN THE LIGHT OF GENETICS.” Journal of Heredity, Journal of Heredity, https://academic.oup.com/jhered/article-abstract/32/8/243/817951.
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  11. Prainsack, Barbara. “Understanding Participation: The ‘Citizen Science’ of Genetics | 17 |.” Taylor & Francis eBooks, 2014, https://www.taylorfrancis.com/chapters/edit/10.4324/9781315584300-17/understanding-participation-citizen-science-genetics-barbara-prainsack.
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  14. Swan, Melanie. “The Quantified Self: Fundamental Disruption in Big Data Science and Biological Discovery.” Big Data, vol. 1, no. 2, 2013, https://www.liebertpub.com/doi/10.1089/big.2012.0002

Miscellaneous:  

  1. “The 23andMe Ancestry Algorithm Gets an Upgrade.” WP Engine, https://blog.23andme.com/articles/algorithm-gets-an-upgrade.
  2. “Ancestry Composition.” 23andMe, https://www.23andme.com/ancestry-composition-guide/
  3. “Understanding The Difference Between Your Ancestry Percentages And Your Genetic Groups.” 23andMe Customer Care, https://customercare.23andme.com/hc/en-us/articles/5328923468183-Understanding-The-Difference-Between-Your-Ancestry-Percentages-And-Your-Genetic-Groups.