“Welcome to You:” 23andMe’s Bioconstitutional Moment Joseph Vitti

I. Introduction: The Personal Market and Bioconstitutionalism

The development of genomic sequencing technologies in the late 1990s and early

2000s was heralded not only as a major breakthrough for scientific research, but also as the harbinger of a new era of biological self-understanding. By examining the human in its (staggeringly large) totality, researchers believed, we could gain novel insights into all aspects of our biology, from our evolutionary history to the determinants of our body’s reactions to disease and beyond. Researchers at that time had already long understood the basic mechanics of DNA, the primary genetic molecule: Watson and

Crick’s 1953 paper in describing its double helical structure had paved the way for several decades of genetic research at the molecular level. This included the all- important unraveling of the ‘genetic code,’ the rules that dictated how genetic sequences were translated into specific proteins. While the advancements made during this early period were foundational for genetics, many suspected that a more global approach would be necessary in order to understand the relation between a complex biological system and its genetic underpinnings (McElheny, 2010; see Wynne, 2005 for dissenting argument). Thus, as technology to probe the genome came of age, it catalyzed a shift in biological thinking from genetics to genomics,1 and created possibilities for asking new questions about the biological basis of human life.

In the US and elsewhere, entrepreneurs as well as researchers were excited about the development of genomic technologies and, in particular, their application to humans.

While a close interrelationship with the market (or markets) is understood to be a largely universal characteristic of technology (Bijker et al., 1987), technologies to extract and

1 These two related fields are distinguished by their scope: where ‘genetics’ typically involves the analysis of one or a few or genetic regions, ‘genomics’ typically involves analysis of many regions or the entire genome of an organism or group of organisms.

1 analyze genomic information in particular lent themselves readily to commercialization.

On the one hand such information was practically impossible for the layperson to access, and similarly difficult to interpret, ensuring a monopoly on such information-generating technology for well-resourced centers of calculation (Latour, 1987). But the information these centers produced was not just esoteric but at the same time intensely personal, able to give consumers insight into their own biological makeup and, as spokespeople for scientific and corporate institutions alike would allege, their fate. Of the new products and markets that genetic and genomic technologies enabled – from the manipulation of genetically modified organisms (GMOs) to the development of prenatal screening –

‘’ stands out because of this relationship of intimacy to the consumer.

Put another way, much of the allure of personal genomic technology stemmed from its purported ability to tell its consumers who they were.

This unique relationship between the consumer and the technology – rendered even more complicated by their interrelationships with other involved entities, such as the companies that design and provide the technology, or the health care providers whose input and expertise could be alternatively supplemented or undermined by information generated by that technology – put companies aiming to provide personal genomics services in a powerful position. The way that a company such as 23andMe, which forms the subject of my investigation in this paper, positions itself in relationship to its consumers can deeply influence those consumer’s conceptions of and attitudes towards their own biological identity. In this way, companies providing personal genomics services in the early 2000s stood at a bioconstitutional moment – an opportunity for a radical reconfiguration of the ways that individuals relate to themselves and to other entities with respect to biological identity and its regulation (Jasanoff, 2011, pp. 10-11; cf. also 2004). Would personal genomics be a precursor to , in

2 which an individual’s genetic indicators of disease susceptibility and drug efficacy are used in prescriptive clinical decisions? Is it within an individual’s rights to access his or her own genetic data, and what sorts of qualifications is this right subject to? Does the generation of that data give the company the right to perform research and/or development based on that data, and how can appropriate consent be ensured? These questions were among the many that would be decided, and continue to be decided, by the interplay between government, companies and consumers in the US and abroad2, and define the emergence of personal genomics services as ‘bioconstitutional’.

Importantly, the way that answers to these questions came into formation was deeply influenced by competition among various business models of personal genomics companies. Although many companies have offered personal genomics services for various purposes (reviewed in Wright & MacArthur, 2012), 23andMe emerged as the most commercially successful of these in the late 2000s, with companies like Navigenics and deCODEme enjoying similar albeit diminished success. Corporate politics invariably played a highly significant role in 23andMe’s success. Indeed, the alignment of 23andMe with , solidified on the one hand with the 2007 marriage of 23andMe’s Anne

Wocjicki and Google’s , and on the other with Google’s $3.9M investment in

23andMe in the same year, was in many ways definitive for securing 23andMe’s hegemony in the personal genomics market (Kelleher, 2007). These factors notwithstanding, 23andMe deployed a unique business model – one that sought to cultivate an online community around their services, and emphasized the role of its consumers as active participants in not just their own health care, but also in research –

2 In many ways, the interrelationships of these agents and others in shaping these policies exemplify the concept of ‘co-production’ (Jasanoff, 2004). In this piece, particularly in section IV, I demonstrate the influence of a consumer identity and epistemology – or, more accurately, of 23andMe’s conception of their consumers’ identity and epistemology – on their business model and modes of operating. More generally, however, it is worth attending to the fact that this element of influence forms part of a larger, multidimensional network of mutual influence and coproduction. With this in mind, sections II and III attempt to situate the company in its broader scientific and sociocultural contexts.

3 that is informative for understanding its commercial success. The deployment and success of this business model highlight, moreover, its influence on the questions posed by the aforementioned ‘bioconstitutional moment’ that the advent of personal genomics services engendered.

In what follows, I analyze 23andMe and its corporate success from an STS perspective (Jasanoff et al., 1995; Hackett et al., 2008). To orient the reader, I begin with a brief description of personal genomics technology and its use by 23andMe. Because the company and its interactions with consumers and government agencies have attracted much scholarly attention, I then outline some of the major ongoing debates surrounding the company. Given the depth and breadth of the many criticisms provoking these debates, it is remarkable that the company has continued to enjoy relative freedom from government oversight, as well as continued support from a growing consumer base. To understand their success in spite of major dissent, I turn my attention to their business model, using the idiom of STS to identify the ways that 23andMe distinguishes itself from competitor services and the ways that these business strategies appear to target a predominantly American audience. I conclude by considering how these choices and the commercial-cultural success they facilitated is redefining ideas of biological identity and genomic research.

II. Genotyping Technology and 23andMe

Sequencing a genome means determining the order of nucleotide bases (the molecules that form the ‘rungs’ of the double helix ladder) contained within the totality of that organism’s DNA. There are four molecules that serve this purpose in DNA, which are commonly represented by the letters A, G, C, and T (adenine, guanine, cytosine, and thymine). Each nucleotide is always paired with its complement on the other strand of the helix to form a ‘base pair;’ A-G or C-T. Although technologies have been improving at a

4 remarkable rate, determining an organism’s full genome sequence is no small task even today: the contains about six billion base pairs, spread across 23 pairs of chromosomes3 (hence the name, “23andMe”).

Although sequencing technology was a necessary prerequisite to personal genomics services, it is extremely uncommon at this time for a consumer to have his or her genome sequenced in full. First, many parts of the genome (~8%) appear to be structural rather than functional (‘heterochromatin’), and these regions are generally left unsequenced even by the Human Genome Project because of the methodological difficulties they present. This qualification aside, it is still uncommon for individuals to have their genome sequenced in full. The vast majority of the genome is shared among humans; only one in one thousand nucleotides appears to vary among individuals. These regions are called single-nucleotide polymorphisms, or SNPs, and often appear at regular locations in the genome that, thanks to full-genome sequencing of many individuals, have been identified and can be targeted. Personal genomics technology takes advantage of this fact and uses SNP arrays to , rather than sequence, individuals at many genetic regions.

In communicating results to consumers, 23andMe reaffirms that genetic variation cannot explain all of human variation (see section IV.iii below). This is because the environment plays many roles: (1) social and cultural factors are known to be influential in the development of complex traits such as those pertaining to personality or cognition;

(2) even simpler biological processes such as drug metabolism are not purely genetically determined, but rather are subject to contingencies of the organism’s environment such as diet; (3) environmental factors, especially those in the uterine environment of a

3 A child receives 23 from each parent for a total of 46. Thus, each parent donates roughly half of their genome to each offspring. The process of recombination, in which exchange information before becoming sperm or egg cells, ensures that offspring always receive novel combinations of their parents’ genetic information.

5 developing embryo, can have epigenetic effects – that is, they can make alterations to chromosomes without changing the nucleotide sequence that affect when and how genes are expressed. Further, it is worth pointing out that the genetic variation examined by personal genomics services does not describe the totality of human genetic variation. In addition to SNPs, individuals often differ with respect to the number of copies of a they may contain (copy number variants, or CNVs). This happens as the result of duplication or deletion of genetic regions. Thus, two individuals with the same SNP profile at a given gene may differ with respect to the related phenotype (i.e., trait) because they may have different numbers of the gene being expressed. In addition, some individuals undergo rearrangements of parts of their chromosomes, such as inversions or translocations. Chromosomal rearrangements and CNVs are often (though not always) phenotypically meaningful, and are typically not detected by traditional genotyping methods.

These limitations aside, 23andMe (and indeed most personal genomics services) test for an individual’s SNP profile at a number of common sites, and interpret the probable phenotypic import of this data. 23andMe consumers purchase a kit that must first be activated online (including a process of consent, wherein users can determine to what degree their genetic data will be private or public, including its use in research).

Once registered, customers deposit about 2.5 mL of saliva in a plastic tube included with the kit. Closing the tube causes a package of enzymes to be released into the spit for preservation and preparation. Users then send the tube to 23andMe’s headquarters in a biological specimen bag provided with the kit. Once received, the sample is processed using a SNP microarray designed by the company Illumina, which tests a total of

~960,000 SNPs on both copies of each chromosome. Two to three weeks later, customers receive their results through 23andMe’s website. Results are binned by category: disease

6 risk, carrier status, drug response, traits, maternal ancestry, etc. Users access this information through pages that provide interpretive guidance and other resources (e.g., one’s risk status for a given health disorder is presented compared to the overall average, together with a host of relevant data and citations – see section IV.iii).

III. 23andMe: The Debates

As the most commercially successful venture of its kind, 23andMe has been subject to critique on a number of fronts. Some of the questions and concerns raised by theorists are applicable towards personal genomics services and direct-to-consumer

(DTC) more generally, while others are directed towards 23andMe in particular, concerning its specific business strategies and corporate activities – such as the recent, unexpected patenting of polymorphisms (i.e., SNPs) associated with Parkinson’s disease (Sterckx et al., 2012). These critiques are put forward by STS scholars as well as commentators from many other fields, including bioethics, law, and the life sciences themselves. In what follows, I outline the most salient of these critiques.

III.i Utility and Validity

Many commentators first question the axiom, ostensibly central to the motivations of many 23andMe customers, that knowledge is empowering. Foster, Mulvihill and

Sharp, for example, consider the value of personal genomics data using a cost-benefit analysis, in which they first distinguish between clinical and personal utility (2009). They point out that from a clinical perspective, such data is at worst irrelevant, but rarely if ever detrimental (assuming it is accurate and assuming that the relevant parties are well- informed on its relevance to the health of the patient in question – two assumptions that, as illustrated below, have invited skepticism). Alarmingly, however, such data can be of negative personal utility in a number of scenarios: when the data provoke an increased health concern accompanied by adverse psychological impact, or conversely when

7 misinformed consumers take a lack of risk indicators in their results to imply that they are not at risk (whereas this may be an artifact of a limited dataset).

The possibility that an individual’s choice to receive personal genomics services could prove detrimental is exacerbated by the possibility of misinformation (Ransohoff and Khoury, 2010). The psychological trauma or stress induced by an indication of heightened risk for a given condition could turn out to be in vain if that indication was provided in error. Thus, the validity of the metrics employed by companies such as

23andMe are of paramount concern. Ensuring quality in personal genetic testing takes place along two dimensions: on the one hand, companies must ensure that the technology used to read an individual’s genetic information is correct (‘analytical validity’); on the other they must ensure that their provided interpretation of the data is correct (‘clinical validity’) (Grimaldi, 2011). A 2009 study comparing the results of two genotyping services (23andMe and Navigenics) for thirteen diseases in five individuals found divergent interpretations of risk. While the two companies agreed in their analysis of all individuals for five diseases, 50% or less of the predictions for the remaining seven diseases agree between the two companies (Ng et al., 2009). The authors speculate that this divergence is due to clinical, rather than analytical, invalidity, and offer suggestions for genotyping companies to improve the accuracy of their interpretive practices. More generally, however, their results call into question the presumed adequacy of the tests employed and the means used to interpret them.

Even under the (contested) supposition that the tests employed are of sufficient analytical and clinical validity, some suggest that their utility remains limited (Hall &

Gartner, 2009). According to this line of thought, the information presented by such tests is minimally, if indeed at all, ‘actionable.’ The authors point out that the correlations identified by genome-wide association studies (i.e., those used to calculate an

8 individual’s risk) are typically weak, diminishing their predictive value. The reason for this is that few health conditions (or, more generally, traits) are determined by singular genes in Mendelian fashion; more typically many genetic regions act together to influence an individual’s susceptibility in ways that are not necessarily additive. Given the weakness of these associations, most customers will therefore be determined to have

‘average risk’ – which, Hall and Gartner point out, is not an ‘actionable’ piece of information. Even in cases where an individual’s risk is significantly heightened, moreover, the authors argue that there is no evidence suggesting that those who do make lifestyle changes will have a better outcome.

Some have also problematized the metrics with which an individual’s risk is calculated. The 23andMe ‘odds calculator’ and other tools used to interpret genetic data often hinge on demographic assumptions that are not always applicable (Hart, 2011). It is well-known that factors like ethnicity and age can significantly affect one’s susceptibility to various conditions, but the limited availability of data means that, for many conditions, the odds calculator will default to what numbers are known – which are often taken from studies of European adults older than forty years old.

In summary, critics have challenged 23andMe and related services on the grounds that their interpretation of data is minimally, if indeed at all, useful for consumers, and can be skewed by inappropriate assumptions. An individual ultimately will or will not contract a health condition, and any prior information about the relative likelihood of such events is more apt to provoke undue anxiety than to spur any meaningful lifestyle changes – indeed, it has not been proved that such changes are efficacious. For many individuals, where personal genetic analysis is concerned, ignorance is far preferable to knowledge – particularly where the analytical and clinical validity of that knowledge is not well established.

9 III.ii Is This a ?

As is typical with the introduction of novel biological entities, the technology

23andMe develops and employs – their ‘Personal Genome Service®’ – is of contested ontological status. This technology appears to involve both product and process: on the one hand $99 buys customers a ‘spit kit’ and postage to send said kit to the 23andMe for analysis, but at the same time it grants the consumer the right to access to the results of those analysis (and the concurrent right to participate in the online 23andMe community).

The technology’s standing as product, process or hybrid becomes legally relevant because it has bearing on the regulations it becomes subject to. If their technology is construed simply as a device, a consumer product, then it becomes relatively free from governmental oversight. By contrast, the fact that it involves a professional, expertise- dependent interpretation of data rendered suggests that it is rather a service, and a medical one at that – in which case, it becomes subject to the regulation of the FDA and informed consent laws, as well as informal codes governing the relationships among doctors and their patients. Thus, a certain degree of ‘ontological surgery’ has been necessary for the company and its legal regulators to determine which rules it falls subject to (Jasanoff, 2011).

23andMe has distanced itself from any legal classification as a medical device or service, ostensibly because such classification would render it subject to much heavier regulation and would therefore adversely affect its profitability and accessibility. At the same time, however, the company has sought to employ medical rhetoric in an unofficial, promotional capacity, emphasizing the health implications of its technology to customers but insisting that their technology is in no way prescriptive. Thus, while the homepage of their website puts forward the slogan “23andMe can help you manage risk and make informed decisions,” elsewhere in their legal documentation they reaffirm that this risk

10 management service is not offered in a medical capacity: “what we do not and will not do is provide medical advice to our customers. Though our service delivers personalized data, the information it provides is tailored to , not to individuals” (23andMe,

2012a, 2012b).

From a legal standpoint, the debate over the question of 23andMe technology’s status as medical was played out in summer 2008, when the Health

Department sent cease-and-desist letters to 13 genetic testing firms, 23andMe and

Navigenics among them. These letters asked the companies to prove that a physician has licensed the performance of each test, as well as that state clinical laboratory licensing requirements were being fulfilled (Langreth, 2008). Popular response to the injunction in support of 23andMe asserted that an individual’s genetic data is their own personal property, and that a physician’s mandate should not be required (Goetz, 2008). By

August, 23andMe had received a state license allowing them to continue their business in

California (Pollack, 2008).

While this episode secured 23andMe’s identity as a non-medical agency within the U.S., other countries have responded with continued dissent. In the European Union, responses towards emerging biological technology have varied, reflecting the existence of a plurality of publics and value systems (Jasanoff, 2005). The European response to personal genomics services reflects this trend. While some countries, such as the UK, have adopted permissive attitudes towards companies like 23andMe, others have adopted and enforced stricter regulatory policies. In France and Switzerland, for example, regulations dictate that the involvement of a medical specialist is necessary for personal genomics services to be performed, although the claim that such services are not in and of themselves medical have allowed some companies to circumvent this restriction

(Grimaldi, 2011). In Germany, these regulations have been more successfully enforced,

11 as evidenced by the passage of the Human Genetic Examination Act in 2009. This law effectively places a ban on direct-to-consumer genetic tests (Wright, 2009). Additionally, it prohibits the order of genetic testing by practitioners other than medical doctors (e.g. dieticians or nutritionists).

As the differential response from European countries illustrates, the ontological status of 23andMe’s Personal Genome Service remains contested. This is further reflected by 23andMe’s recent submission of their first round of 510(k) documentation to the US Food and Drug Administration (FDA) (23andMe, 2012c). This move reflects a desire on the part of the company to receive approval at the federal government level, but also indicates recognition of the ontologically loaded status of its technology and its obvious biomedical implications.

III.iii Consumer Rights, Consent, and Use in Research

Another line of critique directed at 23andMe concerns its policy regarding use of customer data for research (occurring under the aegis of the ‘23andWe’ subdivision, further discussed in section IV.v). In recent years, the company has started publishing association studies that implicate certain genetic variants in the development of certain traits or conditions (e.g. Ericksson et al., 2010; Do et al., 2011; Ericksson et al., 2012).

These studies were initially controversial for three reasons (Gibson & Copenhaver,

2010). First, they had not received approval from an Institutional Review Board (IRB) prior to the commencement of sample collection, as is required by US Human Subjects protections regulations (i.e. 45CRF46).4 The second issue concerned consent: although all

23andMe participants were at the time required to consent broadly to the use of their data in research, the consent form specifies that individuals will be contacted for re-consent if

4 23andMe received a post hoc ruling of ‘not human subjects research’ from an independent accredited IRB on the basis of the fact that major identifying information, such as name or hometown, had been removed from data before analysis (Gibson & Copenhaver, 2010). Nonetheless, it is typically required for researchers to secure IRB approval prior to the commencement of data collection.

12 their data is at any point to be shared with collaborators external to 23andMe. It was contested at the time of the first 23andMe-backed publication whether all authors on the paper were indeed internal to 23andMe, with some author’s official designation as

‘consultants’ to the company entering a gray area. Lastly, although it is typical for researchers to publish raw data as a supplement to their analyses, 23andMe included only aggregate data, as required by the wording of their consent document. Thus, academic audiences has only filtered access to the data used to evidence the claims made in the papers and did not have the option of verifying the claims put forward, or performing any subsequent analysis.

The open-source journal PLoS Genetics ultimately decided to move forward with publication in spite of these issues, on the grounds that no outright violations of the rights of human subjects were reported (indeed the only data shared with individuals possibly

‘external’ to 23andMe was de-identified, a qualification that has now been built into the

23andMe consent document: 23andMe, 2012d) and that the above issues represented rather issues of process that could be in this case overlooked, given that 23andMe was piloting a new form of genetic association study, one based on self-selected participants connected through the internet, that then-current regulations were too strict to accommodate (Gibson & Copenhaver, 2010). Backed by 23andMe, authors have since begun to lay out guidelines to govern the appropriate use of customers as research participants, and 23andMe itself has since changed its policy on research to accommodate individuals who wish to receive personal genomics services but do not wish to participate in research (Tobin et al., 2012). Even without this modification to 23andMe policy, some have suggested that the use of customers as research subjects is not in and of itself problematic, but simply reflects a shift in the constitution of the research subject (Tutton

& Prainsack, 2011). On this view, participation in a 23andMe-type study is a decision

13 made by an enterprising and largely autonomous customer who make the informed decision to accept participation in research studies as part-and-parcel of an economic transaction.

These affirmations of 23andMe’s research legitimacy notwithstanding, others have maintained that the use of customers in research is in and of itself ethically unscrupulous. For example, Williams (2012) points out that, in conducting genetic association studies, 23andMe utilizes not only the genetic information that they themselves generate, but also the lifestyle and family history data that customers provide

– which, Williams argues, amounts to commercial exploitation. She also points out that, while explicit patient consent is formally required for “research” – i.e., producing results for academic publication – no such consent is needed for “research and development” or

“R&D” of commercial products. Thus, 23andMe recently secured a patent – their first genetic patent, although subsequent investigation uncovered several unsuccessful prior applications (23andMe, 2012e; Sterckx et al., 2012). The patent, entitled “polymorphisms associated with Parkinson’s disease” (US-B-8187811), secures 23andMe’s legal claim to the development of therapeutics stemming from this discovery, and is highly contested because the customers whose genetic and phenotypic information were employed in making these discoveries were unaware of its eventual use (ibid.). 23andMe is not only charged with failing to communicate their intent to their consumers earlier (and so failing to grant would-be dissenters the option to back out of any study that might lead to a patent) but also with potentially unethical intent. Spokespeople for the company suggest that the patent is a necessary step for the development of an eventual treatment, but do not substantiate the reasons why this would be so (23andMe, 2012e). This has led many to surmise that the patent is a means for 23andMe to ensure that it controls the commercial benefits of the discovery, at best, while at worst it grants them certain

14 abusive potential: 23andMe could legally charge royalties or block performance of genetic tests for Parkinson’s disease, for example (Sterckx et al., 2012).

IV. Strategic Representations

Given the wealth of criticisms lodged at 23andMe, many of them stemming from powerful institutions like the California Board of Health, the company’s continued prosperity bears some explanation. As indicated previously, material and political factors such as the alignment of 23andMe with Google are understood to be highly influential.

Ultimately, however, 23andMe had to make strategic choices about how to leverage the resources that it was able to amass, and it is these choices that I here investigate.

Specifically, I examine how 23andMe choose to represent itself to the public in order to cultivate consumer interest and trust, invoking the idiom of STS to analyze 23andMe’s business model.

IV.i Know Your Audience: The Civic Epistemologies of the US

My argument in this section is that 23andMe, born of the , chose to represent itself in ways that appeal to an American value system or, more specifically, an

American civic epistemology (Jasanoff, 2005). The term civic epistemology refers to the culturally and historically specific ways that nations or other groups of people come to accept certain knowledge claims. The fate of any novel technology is undetermined until its proponents manage to propagate its use; these proponents may seek to accumulate public support and acceptance in myriad ways, and each of these ways will succeed in certain sociopolitical contexts and not in others.

As Jasanoff and others have argued, the prevailing civic epistemologies of various nations can be revealed by comparative analysis of the ways in which similar technologies and scientific advancements were received by different publics (ibid.). In the United States, a plurality of methods are employed by proponents of novel

15 technologies, but these methods have certain commonalities among them. Among these are an assumption of distrust for large institutions and a concurrent demand for transparency, as well as a preference for de-centralized power structures. This contentious mode of evaluating and accepting knowledge claims may relate to the reaffirmation, whether conscious or otherwise, of a cultural heritage that holds sacred the abstract notion of democracy and prides itself on maintaining a certain distinction from its European forebears.

How could a personal genomics company like 23andMe take advantage of the emphasis on democracy and mistrust of monolithic, impenetrable social institutions that are common to American civic epistemologies to secure its own commercial success?

While some have argued that the sociopolitical valence of a given technology can be considered inherent to that technology (Winner, 1980), I argue rather that 23andMe deliberately constructed a social and political image around their personal genomics technology. This image can be seen through contrast with 23andMe’s less successful competitors, like Navigenics and deCODEme. In what follows, I highlight a few of the decisions unique to 23andMe that helped to effect a public image that would be attractive to an American civic epistemology – one that construed itself as essentially democratizing. As I show below, this image was built through strategic decisions the company made with respect to its self-representation in promotional materials, in its use of social media, in its construction of an interactive and thoroughly didactic web-based interface, and in its representation of its research activities.

IV.ii The Right to Know: 23andMe’s Performance of a Public Image

First and foremost, 23andMe sought to portray itself as a democratizing agent through its self-representation in promotional materials such as its website. This mode of

16 deliberate and conscientious presentation is an instance of the phenomenon Hilgartner refers to as the ‘performance’ of public authority and identity (2000).

Central to this performance and its democratic overtones is an emphasis on ‘you’

– the customer (as captured in the name, ‘23andMe’). The front page of their website invites the audience member to “be your own best advocate,” in virtue of 23andMe’s capacity to “help you manage risk and make informed decisions” (23andMe, 2012a).

These ideas are further elaborated on the “core values” page, in which the company reaffirms a number of beliefs, the first of which are that access to one’s own genetic information is a good thing, and that this information should be controlled by the individual. Other values listed subsequently include the need for dialogue on the ethical, legal, social and policy implications of personalized genetic understanding and “giving everybody the opportunity to contribute to improving human understanding” (23andMe,

2012f).

While competitor agencies such as deCODEme have placed similar emphasis on the customer and her right to know her DNA, 23andMe’s model invokes the rhetoric of democracy in a more positive light. As deCODEme’s front page displays the motto

“YOUR DNA / YOUR HEALTH” in a drab shade of red, together with images of customers labeled as survivors of health conditions, the message is that their personal genomics service is meant to empower the disenfranchised (deCODEme, 2012). By contrast, 23andMe’s model characterizes its consumer as already empowered in virtue of being on their website, with colorful, illuminated graphics – among which the only one depicting ‘health’ is an abstract representation of a fit woman running, rather than someone diagnosed with an adverse health condition. 23andMe also downplays the somber nature of their biomedical applications by putting them forward as one of three

17 dimensions of participation: ancestry (“connect with your past”), health (“learn for the present”) and research (“participate for the future”) (23andMe, 2012a).

This relative de-emphasizing of the health component of personal genomics is one of the major decisions that distinguishes 23andMe from its competitors, with companies like Navigenics portraying themselves primarily as agencies that can supplement information given by physicians. 23andMe managed to substantiate their emphasis on research and ancestry in the first case by publishing novel results in peer-reviewed journals and in the latter by finding endorsement from a prominent academic. Harvard professor Henry Louis Gates Jr. served as the executive producer and host of Finding

Your Roots, a PBS series that used 23andMe to investigate the ancestry of celebrities like

Barbara Walters and Wanda Sykes. This mode of endorsement by recognized authorities is one of the strategies that Hilgartner considers central to the performance of authority, and indeed on their web-based promotional materials 23andMe uses images of Gates and

PBS (23andMe, 2012g).

IV.iii Making Up Consumers: Between the Deficit Model and the Black

Box

In order to construct a corporate image that was perceived as essentially democratizing, 23andMe had to address the question of just who was the demos that they were addressing – and how best to earn the respect and trust of that demos.

As a general strategy, following the example set by Silicon Valley corporate juggernauts like Google and Apple, 23andMe first aimed to make its technology as simple, streamlined, and user-friendly as possible. For example, while they could have offered a number of different purchase options at multiple price gradations (i.e., with more expensive purchases granting the user a higher resolution of SNP genotyping, or additional interpretive features made available through the website), they opted instead to

18 offer one single package for all consumers. Thus, the complex and personal decision- making process confronting a would-be customer of 23andMe becomes simplified in virtue of a limited set of options: purchase, or don’t purchase, all-or-nothing. Once customers have ‘bought in’, they can opt to customize their level of involvement – for example by participating to a greater or lesser degree in the online community (discussed below). However, the prerequisite decision that will allow customers to reach this stage is a binary one.

In some ways, this broad strategy of user-friendliness and accessibility structured

23andMe’s response to the question of how to construe their consumer. What level of relevant background knowledge should be assumed for 23andMe’s audience? Is the average user knowledgeable, or else indifferent – in which case 23andMe can avoid overcrowding its presentation with extraneous explanations of terms like “” and

“gene”? Or is it more prudent to assume a ‘deficit model’, whereby the user is assumed by default to be ignorant (Miller, 2001)? On the one hand, user-friendliness necessitates simplicity, but on the other it necessitates completeness. 23andMe’s adopted strategy reflects a compromise between these two opposites. They aim to provide explanations for all the topics covered, but to do so in layers, such that users who have questions after reading a summary page can easily link through and access more detailed explanations, as well as community pages (i.e. online discussion boards). Resources are also provided for users with relevant expertise, including citations and links to referenced scientific publications for each genetic trait and the option of downloading one’s own raw data.

Links to didactic materials are ubiquitous in the 23andMe interface, with a number of short ‘Genetics 101’-style tutorials accessible to all audiences, as well as much more specific information available for customers investigating their own results. Each result (e.g. a user’s risk for a given condition, a user’s probability of having a certain trait,

19 information that can be inferred about a user’s maternal or paternal ancestry, etc.) is presented first with a summary page detailing the result described and what is known about its genetic underpinnings. This is always supplemented by a “Genes vs.

Environment” blurb, which reaffirms the general importance of non-genetic factors in complex traits and explains what is currently known about the gene-environment interplay with respect to the trait of interest. Users can also pass through a number of other ‘tabs’ within the results report, including a more detailed breakdown of the user’s data and its significance, a technical report, a list of resources (including tools for locating genetic counselors and support groups), and a community page, where users can discuss their results and experience.

The appeal to an American civic epistemology is apparent not only in 23andMe’s layered organization of informational materials, but also in the formatting of those materials. Figures such as relative risk or prevalence of a condition are accompanied by graphic representations wherever possible. These graphics are interactive: one can, for example, request to see how relative risk would change if one were of a different ethnicity or age group. These images help to convey information as well as to effect a sense of epistemic authority: they are outgrowths of Latour’s “immutable mobiles”

(1987), now rendered even more mobile through the use of the internet5 and rendered quasi-mutable through their interactive nature. Reassuringly, they appear to be distinct from Ezrahi’s concept of “outformations” (2004), in that their generation is not a simple or inexpensive process, reflecting rather the accumulated labor of 23andMe’s research- focused employees. Outformations are low in their knowledge content, and appear propagandistic rather than informative – by contrast, the diagrams presented by 23andMe are supplemented with citations and opportunities for discussion for any dissenters who

5 Results pages accessed via the customer’s interface have links prominently displayed that allow users to share their information, both internally with other 23andMe customers and externally through email.

20 question the validity or value of the information represented. Thus, 23andMe’s graphic strategies assume a viewer who is capable of investigating data, but who would first have that data presented in a streamlined, visual, and easy-to-parse format.

IV.iv Creating a ‘Gene Pool’: 23andMe and Social Networking

Catering to a democratically-oriented civic epistemology necessitates not only careful construction of the demos, but also the provision of opportunities for that demos to participate in the processing of data and knowledge. As indicated above, these opportunities are realized first through the creation of a user-friendly, interactive data visualization and exploration interface. But beyond allowing the consumer to interact with the data, 23andMe also provides opportunities for consumers to act with each other

– for example, through the aforementioned bulletin boards for each genetic result.

Perhaps through the influence of their allies at Google (or perhaps in a response more generally to the contemporary climate of social networking), 23andMe constructed a social network as part-and-parcel of their personal genomics service. This emphasis on networking is apparent from the start: in order to have a kit analyzed, one must first register that kit online – a step which includes the creation of an online user that will be used to access results, but can also be used to connect with other users.

The social networking component of 23andMe extends beyond results-based bulletin boards. Users are also encouraged to interact with each other through the creation of user-defined interest groups (e.g., for discussing a certain disease or ancestry group) and tools that allow consenting users to share and compare their genetic data. Users can also decide to participate in a ‘relative finder’ feature that matches individuals with other consenting participants on the basis of similarity and inferred shared ancestry.

Lastly, participants have the option not only of interacting with their data and with each other, but also with the company itself – albeit in extremely limited fashion.

21 Announcements of multiple kinds – new research initiatives, changes in governance structure, etc. – are posted via a publicly accessible blog, where users have the option of posting comments. It is worth noting that these arenas are subject to the moderation of

23andMe officials, and thus their utility as authentic public fora appears limited.

Nonetheless, they offer a pulpit for users to voice concerns, as indeed many did following the announcement of 23andMe’s first patent (23andMe, 2012e). These concerns may or may not be addressed to satisfaction by company representatives.

More typically, the interaction between customer and company is unidirectional, as in the case of user surveys. 23andMe prominently encourages users to participate in surveys on various topics that enable their aggregation of phenotypic data. These surveys are further incentivized on the 23andMe mobile application, where participants earn digital ‘badges’ for completing milestone numbers of surveys. While on the one hand the invitation to participate in these surveys can be seen as a democratizing move, inasmuch as it encourages active engagement rather than passive receipt of results, there are reasons to question this relationship. In what follows, I consider 23andMe’s research model and the arguments for and against its supposedly democratic nature.

IV.v 23andWe: A New Mode of Research Participation

Perhaps the most conspicuous piece of the 23andMe business model that distinguishes them from competitors is their emphasis on the performance of novel research. By supplementing the genetic data generated through analysis of customer- donated specimens with customer-provided phenotypic information, 23andMe has amassed enough data to begin to perform genome-wide association studies (GWAS), which identify SNPs that are significantly associated with various traits (including disease susceptibility). From the point of view of research, this ‘’ strategy opens up new possibilities: on the assumption that self-reported information is accurate,

22 and provided that corrections are made to account for an atypical, self-selected population structure, 23andMe’s do-it-yourself approach overcomes the traditional limitations of GWAS (small sample sizes and logistically cumbersome data collection).

There are, however, reasons to be skeptical of 23andMe’s approach. Consistent with the aspects of their business model outlined above, 23andMe presents their approach to research as part of a larger democratic turn in genetics: by conducting surveys, the company “gives customers the opportunity to leverage their data by contributing it to studies of genetics” (23andMe, 2012h). By providing this ‘opportunity’ to users,

23andMe portrays itself as catalyzing a revolution in disease research (23andMe, 2009).

Such democratizing rhetoric obscures the way that the company itself stands to benefit from user participation in those surveys: namely, through the production of novel research discoveries that can be leveraged as publications or patents, either of which bolster the brand and profitability of 23andMe. With this in mind, some have suggested that the use of surveys amounts to little more than a ploy for free labor (Harris, Wyatt &

Kelley, 2011). On this view, 23andMe’s use of rhetoric and other devices (e.g. the aforementioned ‘badges’ one received for completing milestone numbers of surveys) are devices used to create a sentiment of reciprocity and social ties with the aim of coercing the user into freely giving information that can be capitalized upon.

As the above argument reminds us (and, indeed, as this paper demonstrates),

23andMe is, at heart, a corporate venture, that will aim to represent itself in the most profitable way possible. Whether this fact completely invalidates the ideals of democracy in medicine and research that they espouse – or, perhaps, whether it simply renders them somewhat flimsier than they would have the consumer believe – is debatable. There are, however, reasons to believe that their research model is not so sinister. These reasons come from the recognition that, although there is plainly an asymmetrical distribution of

23 power between corporation and consumer, the average consumer is not so disenfranchised as, for example, the Foucaldian conception of ‘biopower’ would suggest

(Jasanoff, 2005). Consumers are capable of making decisions for themselves, and although 23andMe helps itself to slippery rhetorical and graphical devices to influence those decisions, they still remain the consumer’s sovereign right.

To demonstrate this point, it is worth considering that ultimately consumers can determine not to participate in online studies at all, and can also decide to withdraw their genetic and phenotypic data at any point (23andMe, 2012d). Additionally, since consulting with an IRB (spurred on by their early attempts at publication), 23andMe has added an option whereby individuals can receive their genetic results in a private manner, without those results being contributed for research purposes.

Although these options are put in place, many consumers decide to participate in the surveys anyway. There may be many reasons why: succumbing to the social pressure effected by 23andMe on the one hand and believing in the importance of genetic research on the other among them. Somewhat more simply, studies have shown that people often enjoy participating in crowdsourced efforts; presumably this pleasure is modulated by the degree to which the company and other participants reaffirm the value of participation

(Brabham, 2010). Some have also suggested that participation in 23andMe’s surveys is spurred on by the recognition of a social contract (Tutton & Prainsack, 2011). On this view, enabling 23andMe to conduct genetic research is something consumers do in return for the services rendered to them – genotyping and interpretation of data – at a much lower price than such research services typically require.

Ultimately, a normative assessment of 23andMe’s research model must accommodate the ambiguous intentions that undergird it. On the one hand, the research

23andMe is productive represents genuine contributions to the scientific literature.

24 Previously published results (e.g. Ericksson et al., 2010; Do et al., 2011; Ericksson et al.,

2012) demonstrate rigorous and useful analysis, made publicly available through open- source journals. On the other hand, however, the lack of public availability of their datasets represents a serious limitation to the public utility of their research; given the amount of reconsideration their consent form has received since they first moved to publish, one would expect that they would arrange for de-identified data to be made public if the common good really is their first priority. Along similar lines, their recent patent suggests that their own corporate profitability was determined to trump public research (their unsubstantiated claim that a patent is the most secure route to improved therapeutics notwithstanding – 23andMe, 2012e). The patent likely represents the decision to block external agencies from capitalizing on a discovery that belongs arguably to the consumers who donated data as much as the company that generated and analyzed that data (Sterckx et al., 2012).

V. Conclusion: 23andMe’s Bioconstitutional Moment

In this paper, I have examined the ways that 23andMe’s representational strategies reflect an awareness of an American civic epistemology. 23andMe has distinguished itself from its competitors by constructing a technology targeted at a democratically-minded constituency, and in the process, has opened up new opportunities for simultaneously advancing research and bolstering its own profitability.

The emergence of 23andMe as the victor over its competitors comes perhaps as no surprise in light of the strategic decisions I have discussed above. The significance of

23andMe’s victory, however, is perhaps not so obvious. The advent of personal genomics services defined a bioconstitutional moment, with the potential to redefine the relationships among corporations, physicians, research institutions, individuals, and our own biological selves. How has 23andMe redefined those relationships?

25 Inevitably, the first major shift among these relationships is one of commercialism. Access to one’s biological information comes with an (admittedly declining) price tag. While self-knowledge has long been a means of profit (consider ancestry searches, personal diet consultants, or, historically, fortune-tellers of various sorts), the extension of this phenomenon to genomic technology represents a biotechnological milestone. In some ways, the sharp realization that one’s biological identity can be commoditized is softened by 23andMe’s emphasis on its ‘non-corporate’ ventures such as its online community, as well as the bona fide performance of meaningful genetic research – but nevertheless the point remains that intimacy with one’s genetic self has become something that can be bought or sold.

Less definitive is the effect of 23andMe upon the medical industry. While personal genomics was meant to be the first step towards personalized medicine, commercial services such as 23andMe are rarely if ever employed in the clinic, and indeed many speculate that their utility will remain limited until full-sequence data can be affordably obtained (Ng et al., 2009). While the possibility of FDA approval suggests that

23andMe’s technology may later gain greater acceptance in the medical community, at present it appears to be at best a supplemental source of information that health-conscious consumers may choose to employ on an individual basis.

On the other hand, the deployment of a new model of large-scale GWAS has already begun to redefine the research community’s approach to genetic studies. It is improbable that more traditional, local cohort-based studies will cease altogether, but the

23andMe model has provided an alternative that is gaining momentum – and will likely continue to do so as the company expands. Accordingly, it is the research subject whose constitution is most shaken by the success of 23andMe. In classical studies, subjects are passive donors of information, typically recruited with some financial incentive, and

26 uninformed of the results of the study to which they contribute. In 23andMe’s studies, subjects participate of their own volition (indeed, they pay for the opportunity), and are kept connected to a centralized community where results are shared and discussed.

The research subject has shifted from a passive recipient to an active participant, engaged both in research and in a corporate transaction. As long as commentators and participators cultivate an awareness of the corporate dimension to 23andMe – which its spokespeople would downplay – such transactions can continue to the (by no means equal) benefit of the inquiring customer, of the biomedical research community, and of the company alike. Whether the broader commercialization of the biological self is a worthy price to pay for the reinvention of the genetic research subject will be born out in coming years – although 23andMe’s potentially shady motives in securing a patent suggest that there are reasons to maintain skepticism.

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