Excavating the Personal Genome

The concept of the good biocitizen is useful in understanding expectations for data collection during a time in which there is ever more monitoring in the name of health, national security, and ever more system efficiency. The idea of the good citizen builds, not on a legalistic framing of citizenship, but instead on one that defines citizenship through action and effort. At the core of this framing are neoliberal assumptions that “human well-being can best be advanced by liberating individual entrepreneurial freedom and skills within an institutional framework characterized by strong private property rights, free markets and free trade.”¹ Virtuous practices and decision-making are therefore inextricable from the demands of the larger social body through which the good citizen achieves a sense of duty and membership.

Since the completion of the Human Genome Project, genomic sequencing as a transformational technology has been cloaked in the promissory language of health, justice, and human progress.² This focus on the potential for human transformation is fundamental to the bioeconomy in which genomic technologies are fashioned. Public investment in genomic sciences has contributed to a growing ecosystem of commercial products and services that are no longer considered discretionary or fringe but are instead marketed as key to the maintenance of health for the rational biocitizen. Government, genomic science, and private industry converge in a nexus of accessible tools and techniques in which consumers become biocitizens who are increasingly required to internalize definitions of “health and normality.” In pursuit of these ideals, the biocitizen is encouraged to engage in technologies of social control that link individuals to ways of knowing that are increasingly potent and routine.

The rise of genomic technologies catalyzed shifts in the health care landscape and the commercialization of genome sequencing and testing services fueling the direct-to-consumer genomics market. Public consumption of genomics reflects challenges to the conceptual definitions of biological versus social, private versus public, and individual versus communal, which has implications for the assessment of risk, benefit, responsibility, ownership, and obligation. The reframing of patients as research participants and as consumers reconfigures obligations and responsibilities for the “care” of personal data and biological specimens. The boundary between clinical care and research that is the bedrock for so much of the ethical infrastructure built up since The Belmont Report³ nearly fifty years ago is often indiscernible. The erosion of bright lines that guide practices of consent and disclosure has led to more and more overlap of domains of clinical care, research, and commercial activity. This erosion has been caused by the pursuit of seamless translation from bench-side sciences to bedside care and by the demands of systematic and ongoing data collection. This changing landscape is in part the result of major reframings of the meaning of the individual and changes in responsibilities and obligations, whether one is identified as patient, research subject, or health consumer. For example, what obligations emerge or fall away when the fiduciary relationship between doctor and patient shifts into a research context or into the transactional exchange in commerce?

Direct-to-consumer genetics raises fundamental questions about how competing interests of the public, the state, and corporate entities will be reconciled and what trade-offs are demanded in the era of precision health.

This essay draws upon my anthropological research of the personal genetic testing industry over the past decade, including over one hundred individual interviews and focus group discussions with 23andMe consumers and employers between 2009 and 2013. Here, I focus on direct-to-consumer genetics as one of several developments that exemplify expectations of the good biocitizen. Bypassing the health care system and traditional gatekeepers to genetic testing, direct-to-consumer genetics provides unfettered consumer access to genetic information and can be understood as a natural outgrowth of a political project based on neoliberalism and contemporary transformations in medicine that construes disease and its management through the lens of capital investment and market opportunity. Direct-to-consumer genetics thus raises fundamental questions about how competing interests of the public, the state, and corporate entities will be reconciled and what trade-offs are demanded in the era of precision health. What constitutes individual freedom in the context of ubiquitous data collection, including about individuals’ genomes? To what extent will the sacrifices of the “good citizen” translate into equitable distribution of the products yielded by these transformations in medicine? What are the shared understandings of “the good” that will inform who benefits from these products?

I argue that the uptake of genomics and its development into a growing array of data technologies aimed at collecting, curating, and broadly sharing personal data and biological materials reconstitute the meaning of health and reframe patients into biocitizens. Public consumption and acquiescence to all-encompassing, passive surveillance are fueled through a narrative of personal responsibility for realizing the potential of precision health. Blurring the boundaries between state and commerce, research and clinical care, and individual and community, the language of innovation and expediency in closing “the gap” in health disparities further rationalizes the turn to the genomic marketplace in making good on the promise for better and equitable health.

Consumer Genomics as Precision Medicine

Technological developments such as the Internet, mass ownership of the personal computer, and increasingly cost-effective genetic sequencing have led to a rise in health-information seekers among patients and the public in general. These forces have fueled a proliferation of companies that sell personal genetic information directly to consumers via the Internet. The direct-to-consumer genetic testing market in the United States has grown dramatically over the past decade; in 2016, it was estimated to be worth $11.9 billion.⁴ A large proportion of this industry is focused on genetic ancestry testing. More than fifty companies now provide genetic ancestry testing, including Ancestry DNA, African DNA, and National Geographic, which has incorporated such testing as part of its global sampling initiative, the Genographic Project.⁵

The bundling of genetic ancestry information with other types of testing and screening, including nutrigenetic, pharmacogenetic, and paternity testing and newborn screening was championed by 23andMe, a small start-up founded by two women entrepreneurs in 2006 in the San Francisco Bay Area. With the banner “It’s just saliva. No blood. No needles,”⁶ 23andMe issued a significant challenge to the conventions and policies that aimed to protect individuals from genetic information on the grounds that some of it could cause needless anxiety or distress requiring oversight by health providers. By issuing a simple invitation to engage in self-discovery, 23andMe attempted to reorient the public to the value and power of genetic information. Based in Mountain View, a town in the heart of Northern California’s Silicon Valley and one of the most racially and ethnically diverse in the United States, 23andMe began to sell genetic test results along with the opportunity for consumers to download their “raw data,” or their uninterpreted genetic sequence.

Customers purchase test kits online and receive a set of materials and simple instructions on how to generate sufficient saliva for deposit into a plastic vial. Customers then send their sample in a prepaid package to the company’s lab for DNA extraction and analysis. Using a gene chip that can analyze more than two million single-nucleotide polymorphisms, the company uploads ancestry determinations and risk ratios of specific genetic markers associated with diseases and conditions to customers’ accounts a few weeks after the initial online purchase. Offering a broad spectrum of “medical” tests for disease risks, including Parkinson’s, Alzheimer’s, and Tay-Sachs diseases, along with “nonmedical” tests for traits such as eye color, bitter taste perception, and alcohol flush reaction, the company stresses that getting to know your genes is fun.⁷ Framing it as a hobby or entertainment, 23andMe transformed genetic testing from a weighty enterprise in need of professional oversight to a private matter between consumers and the company.

By asserting that individuals have a right to access their genomic data, direct-to-consumer companies circumvented the health care system and the traditional view that medical professionals should be the gatekeepers to such information—and thereby protect patients from psychological or social harms that the information might entail. In sidestepping the health care system, direct-to-consumer genetics takes deliberate aim at the paradigm of clinical utility that informed practices and policies on genetic testing by asserting that individuals have rights to unfettered access to their genetic data. This marketing move depends on several key changes. Conventional wisdom that only patients—those with a history or symptoms of disease—should be eligible for testing has eroded, giving rise to an assumption that healthy individuals should have the choice to test for a range of diseases and conditions that may or may not be considered actionable. With this change, the therapeutic warrant for seeking genetic information based on prior risk is rendered obsolete for those willing and able to pay for testing. Facilitating this shift are the new online portals of genetics that enable individuals to bypass the clinician and place genomic information in a larger consumer domain outside the health care system.

These developments represent a challenge to a decades-old paradigm that requires demonstrated clinical utility and a reconfiguration of the social relationships structured by the flow of genetic information. The sale of personal genetic information through companies reflects a pendulum swing from an era of circumscribed use of genetic tests to one that offers open access to test results as well as individual uninterpreted, raw genetic data.

Genomics and Responsibility: “Welcome to You”

Personal genetics and precision medicine have been steeped in the language of empowerment from the onset of the Human Genome Project. With this project, genetics as “ordinary biology” gave way to an era of “largescale biology” that has demanded new forms of governance.⁸ The proliferation of tools and databases that are now freely available to an interested public gave rise to the do-it-yourself genetics movement, which helped propel genetics outside the health care system. These technological developments frame personal genetic information as an extension of the body, making it into a right and not a luxury. Genetic information has come to be seen as a portal for improved health and as a gold mine for personal knowledge and understanding. Building on the popular concept of empowerment, the personal genetic testing industry has marketed its products as tools of discovery and health management.

Beseeching would-be consumers to commit to “a healthier you, inspired by your genes,”⁹ 23andMe has abandoned initial denials of selling health information. Despite any changes in marketing, 23andMe customers have long used the company’s risk ratios for medical purposes, interpreting their results as an indication of their and their family’s health statuses.

This was the case for Peter, a thirty-two-year-old high school teacher residing in St. Louis, who was given a 23andMe kit by his mother as a birthday present. His mother, like so many 23andMe customers at the time, had been drawn to the company’s genetic ancestry testing product in order to fill gaps in her family’s genealogy. Peter was not aware of the company when he received his mother’s gift but was eager to participate as a way of supporting her hobby. After sending off his saliva sample, he received an email several weeks later indicating that his information was available. Peter told me that he was nervous when he logged onto the company site to unlock his results, and he described a surprising sense of relief when he came to risk information for colon cancer. Knowing that two members of his extended family had been diagnosed with colon cancer, he said that discovering that he had only an “average risk of developing the disease” allowed him to “breathe easy”: “It was quite useful in that we felt this specter of colon cancer that might be just hanging out there for everybody in my generation and younger was actually sort of now removed because I know according to 23andMe, I have average genetic risk, so I feel confident in being able to manage the environmental factors.”

Peter’s interpretation that he had dodged a “genetic bullet” reflects how consumers are comforted by direct-to-consumer information. Finding out one’s risk allows for a new set of practices for managing one’s body and health. Self-care and agency in the neoliberal context go beyond assuming the role of being one’s own doctor. They involve a deeply rooted sense of responsibility to, as Peter expressed, “manage the environmental factors” against disease. Individuals use genetic information consciously, employing a calculus that attempts to balance risk. Another 23andMe customer, Claire, an assistant at an architectural firm in Seattle, described how this sense of self-management stems from her feeling of ownership for her genetic risks for disease: “It makes me feel more of the ‘responsibility taker’ for my own health, and my health is my responsibility, not the responsibility of my physician or the system, now that I can get information and make it actionable myself. For example, for conditions like coronary artery disease and rheumatoid arthritis where I am at higher risk, I feel I have responsibility to take action.”

Industry efforts to reconstruct individuals as consumers rely on a neoliberal view of individual health as public health. In this view, accessing personal genetic information becomes an important demonstration of citizens’ responsibility.

Sociologists have described the sense of genetic responsibility as being integral to how biocitizens take up their perceived obligation to mitigate risk. Nikolas Rose and Carlos Novas explain, “The responsibility for the self now implicates both ‘corporeal’ and ‘genetic’ responsibility: one has long been responsible for the health and illness of the body, but now one must also know and manage the implications of one’s own genome. The responsibility for the self to manage its present in the light of a knowledge of its own future can be termed ‘genetic prudence.’ Such a prudential norm introduces new distinctions between good and bad subjects of ethical choice and biological susceptibility.”⁹ As critical biomedical facts, risks do not exist a priori; rather, they come into being through interpretive acts. Risk and its interpretation have been important factors for how individuals and groups are managed, and are also significant dimensions in neoliberal approaches to health. Risk is therefore a crucial concept in neoliberal economies and its attendant techniques of rule and forms of citizenship. Political scientist Wendy Brown has called for an analysis of how this biomedical paradigm merged with the ideal of neoliberal citizen-subjects as “rational, calculating creatures whose moral autonomy is measured by their capacity for ‘self-care’—that ability to provide for their own needs and to service their own ambitions … [an] individual who is fully responsible for her/himself.”¹⁰

Industry efforts to reconstruct individuals as consumers rely on a neoliberal view of individual health as public health, a view in which accessing personal genetic information becomes an important demonstration of responsibility by citizens of a democracy. In neoliberal economies, the roles of the state, individuals, and market blur, and there is skepticism about governments’ capability to properly govern. These conditions lead to an emphasis on markets as the proper regulators of economic and social activity, with entrepreneurship replacing programs that promote social welfare. Through self-examination and self-care, self-governance serves to reduce the burden of individuals on society.¹¹ Now individuals are charged with the duty to prevent diseases that begin with managing risky mutations. The corporatization of self-care provides entrepreneurial opportunities for calculating, “quantifying,” and creating markets and products on the assumption that the public is responsible for actively confronting individual risk and engaging in risk control. Direct-to-consumer genetic consumers’ claim of self-expertise is crucial in their authority to make decisions about health-improving activities. In so doing, “they have,” as Linda Hogle argues, “been transformed from healthy individuals into potential patients into educated consuming subjects.”¹²

Excavation of the Subclinical in Precision Health

In this formulation of self-care, real democracy functions through some combination of government by experts and a willing public, and together these parties strategically navigate disease risk to promote individual health, with the expectation that doing so fulfills the logic of genomics in translating into improved health for civil society. Social networking platforms facilitate this process as individuals upload their health information along with genetic data for further research. Networking platforms such as PatientsLikeMe were early precursors to the commercial biobanks in encouraging patients to exchange their experiences with other members of the sites and to contribute aggregated data for in-house research as well as more conventional drug trials. A long-standing feature of 23andMe is its research arm, which has recruited consumers into a proprietary biobank that has been marketed as potentially leading to “major improvements in diagnostics, preventive medicine and therapeutics.”¹³ As part of this effort, in 2012, the company announced $50 million of financing to support the One Million Strong campaign aimed at enrolling one million customers into the 23andMe biobank. This is an example of the push to scale up biomedical research through individual “donations” of genetic samples offered in the genetics marketplace. In 2019, the company counted over 10 million individuals as members of the 23andMe cohort.

Described in relation to genetic democratization and individual empowerment, individuals are both consumers and the company’s research participants. The 23andMe experience thus becomes the actualization of self-care, integral to “the common good.” Anthropologists and other social scientists, however, have provided analytic frameworks that challenge this understanding of the good biocitizen by exploring the use of proprietary biobanks, built through the accumulation of their customers’ samples, as “surplus health”¹⁴ and biovalue that is necessary for the genetic economy.¹⁵ Direct-to-consumer genetics adopts the promissory language of data mining, with corporate interests operating through a narrative of democratization and patient advocacy that elides questions about bodily capital and labor.

As the private sector becomes a central source of genetic information and a site of public engagement with precision medicine, the state reframes genetic health as a matter of justice and the elimination of health disparities. In a 2015 State of the Union Address, President Barack Obama announced the Precision Medicine Initiative (renamed the All of Us Research Program in 2016) with the goal of initiating “a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward the development of individualized care.”¹⁶ Characterized as a “patient-powered” cohort, the research program’s one million American volunteers are asked to share a comprehensive set of data with the government, which includes their medical history, profiles of their genes, metabolites and microorganisms, environmental and lifestyle data, and patient-generated information from individual personal devices and sensor data.¹⁷ Volunteers are asked for their consent to deposit their updated data to the resource for at least the next ten years.

A central aim of the All of Us program—which describes itself with familiar promissory language emphasizing “potential,” “speed,” and “the development of new treatments” that “have only just begun to be tapped”—is to enroll individuals who identify with groups historically underrepresented in biomedical research in order to “reflect the diversity of the U.S. population.” In its call to arms, the program stresses that achieving its goals requires “a coordinated and sustained national effort.”¹⁸ As a public-private collaboration with more than forty companies in key roles of recruitment and data analysis, the initiative reflects the increasing corporatization of translational medicine that converts research from bench to bedside and demonstrates how such projects are being conveyed to the public in terms of public service in the name of the nation’s health.

Jet Engine Surveillance: The Problem of the Human

In a 2018 article in Science Translational Medicine, researchers argue that disease prevention and detection by monitoring based on an individual’s risk is the key for precision health: “[The] active practice of personalized health can change the custom of society so that the individual is empowered to prevent their own disease.”¹⁹ The authors reinvigorate the concept of empowerment as they identify a new object of scrutiny: the “subclinical,” the terrain that is not yet visible but lurks beneath, requiring the careful, tedious work of excavation. Surfacing the potential for disease reconfigures the role of the physician into data scientist. In describing the infrastructure needed to realize precision health, the authors introduce the analogy of aircraft engine health: “Precision health draws on the experience of another field in which prevention is paramount: aircraft engine health. Modern jet engines are constantly surveilled by hundreds of sensors to prevent engine failure. Meanwhile, the average American adult visits a health care provider fewer than four times a year.”²⁰ Engine repairs are forecasted by “digital twins”— “ultrahigh-fidelity individual simulations that feed a physics-based engine model with terabytes of real-world sensor data.”²¹ In this configuration, the human body as machine is a portal for new ways of knowing in the Foucauldian sense—a site of new knowledge and social control relying on continual passive uptake of data and download of information that forms an action plan.

According to this formulation, the problem is the “human aspect of behavior”: “[a] jet engine cannot reject its sensors, whereas long-term human engagement in health monitoring may prove challenging.”²² Relying on the human to actively practice self-surveillance may be a losing proposition. Active practice of self-monitoring has proven unreliable; some have estimated that at least one-third of U.S. consumers of wearable activity trackers stop using them after six months. To address this, the authors suggest a workaround: “noninvasive high-frequency health monitoring can be achieved passively during routine daily activities, overcoming the obstacle of actively modifying human behavior.”²³

An example of passive, high-frequency routine health monitoring is the Flowsky toilet. Developed by the Japanese company Toto, the world’s largest manufacturer of toilets, the Flowsky is an Internet-connected toilet that uses sensors and artificial intelligence to analyze human waste. The toilet seat uses optical sensors that scan the contents of the toilet bowl and analyzes urine and stool for abnormalities in color, consistency, volume, and frequency that may signal bladder or prostate problems. In September 2018, the electronics company Panasonic released a health-tracking toilet in China that not only tests urine for blood, protein, and other indicators but also uses sensors embedded in an armrest to measure body fat and identify users by scanning their fingerprints.

The good biocitizen, inundated with risk information and uninterpretable genetic data, is faced with unrealistic demands for enacting her own health.

In a study of the toilet seat-based cardiovascular monitoring system, researchers found that such technologies had successfully demonstrated accuracy with respect to blood pressure, stroke volume, and blood oxygenation that is consistent with gold-standard measures.²⁴ They add that the system has the potential to address low patient adherence, as it does not require any change in habit or behavior, and conclude that “[t]he toilet seat-based cardiovascular monitoring system has the potential to fill a gap in patient monitoring by capturing trend data that has been previously unattainable. This system has the potential to address many of the challenges with in-home monitoring in a form factor that integrates into the daily routine of patients, bypassing barriers to adherence and providing a comprehensive and accurate set of clinically relevant measurements.”²⁵

User behavior to bolster adherence is integrated into the business models of emerging companies in which emailing, phoning, and “pinging” patients through smart phone apps is seen as a way to offer noncompliant users “coaching and training” to make changes based on their collected data. Heralded as an innovation for precision medicine, the smart toilet is an example of continual monitoring that is normalized as a seamless, unobtrusive technology that manages bodies in the name of health. Direct-to-consumer genetics helped pave this trajectory. A common refrain among 23andMe customers emphasized the power of technology for improving health. Steven Brown, a forty-two-year-old stockbroker who purchased his kit in 2008, underscored this point during our interview: “People need objective facts. Genes don’t lie and it takes away the human tendency to see things in the way they would like when it comes to how healthy they are. That’s the brilliance of it all. Take human distortion out of the equation. I just want the facts, ma’am.”

Several scholars have theorized that market capitalism and neoliberal governance have created a set of expectations that individuals should be responsible for their health status and that it is incumbent on them to apply individual risk information in their daily decision-making to improve their health.²⁶ These everyday activities involve acceptance of perpetual tracking as inherent to goals of mitigating risks. The focus on individual behavior by information seekers reflects a strategic shift in responsibility from the state onto individuals and groups who are engendered with a moral obligation to engage in deliberate decisions of self-care, fueled by a desire to be, and be perceived as, responsible, rational, and self-actualizing. Central to neoliberalist rhetoric is the allusion to personal choice. The neoliberal ideals of liberty, freedom, and agency have been used to transfer responsibilities of the state over to citizens so that, in the name of self-empowerment, individuals become enterprising and self-governing.

Good Biocitizenship: Managing Genomic Risk

Delivering precision has always been the gold standard for clinical care. However, the era of precision medicine is distinctive in its proposition of increasingly invasive data collection and surveillance as a reasonable trade-off for the promise of a largely undefined health benefit. In contrast to hypothesis-driven clinical trials that recruit patients, direct-to-consumer genetics engages primarily healthy individuals with a broad array of genetic test results. Oncology patients who consent to the sequencing of their tumors to advance diagnostic and therapeutic approaches are presented with a different set of rationales than those given by a genomic marketplace that links geomapping of individual activity to passive surveillance of toilet use. As ubiquitous data collection and sampling are swept into the rhetoric of precision medicine, investigating the implications of these techniques for different groups will be critical for meaningful public engagement on questions of value and risk.

In the marketplace of genetic information, individuals’ experiences as health-minded citizens are cultivated through self-constituting practices. Scholars of genetic ancestry testing services have demonstrated that individuals engage with genetic information in complex ways—strategically, situationally, and selectively—as they negotiate racial and ethnic categories of difference.²⁷ The practice of self-reporting racial and ethnic identity, in both the direct-to-consumer genetic testing and academic research domains, sparks questions about how to reconcile genetic ancestry results with historically based social identities.²⁸ The commodification of genetic information alters and fragments responsibilities and obligations for consumers, the state, and the corporate sector over how racial and ethnic labels engage with genetic ancestry results and their implications for assessments of risk for disease.²⁹

Consumer genetics and the larger ecosystem of commercial monitoring devices challenge communitarian conceptions of the common good enacted by the state by converting health into a commodity available through market-based goods and services. As anthropologist Sunder Rajan describes, “We are witnessing an era characterized by regimes of ‘corporate governance’ in which corporations have taken on state responsibilities and the state itself has been partially corporatized.”³⁰ The corporatization of genetics works in tandem with the emerging experience of the “good biocitizen,” who shows self-restraint in personal choices and economic behavior. These “good biocitizens” are critical to a well-governed, stable democracy.³¹

The notion of the good biocitizen defines citizenship through action and effort. Citizenship is understood as a virtuous set of practices, and the extent and quality of one’s citizenship are functions of one’s perception of the greater community and the responsibilities it demands. Consumer genetics is fertile terrain on which citizens can—by making the putatively right health decisions and exhibiting the presumptively right behaviors—show themselves to be good members of the community. Today’s good biocitizen is reminiscent of the challenges placed on the “informed citizen” of the late nineteenth century to be knowledgeable of all aspects needed to take prudent action.³² Similarly, the good biocitizen, inundated with risk information and uninterpreted and uninterpretable genetic data, is faced with unrealistic demands for enacting her own health. According to this formulization of citizenship, resistance by citizens who fail to act prudently to avoid or at least try to deter the “diseased” outcome their genetic profiles indicate may be worthy of moral reprobation.

Precision medicine requires a robust infrastructure of data technologies that can collect, curate, and broadly share personal data and biological materials seamlessly and without friction. Industry and, in particular, the genomic marketplace provide tools, services, and networks that reframe patients as consumers. In this context of ubiquitous collection of personal information and of public and private efforts toward the aggregation of data and biospecimens, the good biocitizen emerges. Emblematic of this new terrain is consumer genomics, in which, in the logic of precision medicine, individual consumption and management of personal genetic information are presumed to be moral acts. The discursive framing of direct and unconditional access to genetic data, including its “raw” form, emboldens justifications for passive uptake and surveillance of individual behavior. However, this shift raises fundamental questions about how the interests of the public, the state, and corporate entities will or can be reconciled and about what trade-offs are and should be made in the name of precision. To what extent does the participation of the good biocitizen translate into the “common good,” and for whom? What constitutes the good for the state, the company, or the biobank? It is unclear where the locus of authority, governance, and accountability lies in adjudicating the value of population-based data collection and DNA sampling. A challenge in the age of precision health is navigating points of intervention that blurring boundaries of state and commerce in emerging regimes of self-care occlude from view.