The Social Life of DTC Genetic Testing: The Case of 23andMe
Joan H. Robinson
The decoding of the human genome in the summer of 2002 was accompanied by the swift commodification of direct-to-consumer (or DTC) genetic tests – that is, DNA data analyses for sale to the lay public. DNA-based paternity testing had been publicly available since the early 1990s first, at select laboratories, and later through online commerce. In the late 1990s, medical genetic tests such as Myriad’s BRAC Analysis (for hereditary predisposition to breast and ovarian cancers) were introduced in clinical settings. But the subsequent decade saw a watershed of DTC genetic testing services aimed at a far broader market than potential parents and possible cancer sufferers. Readily available for purchase on the internet, these new commercial technologies targeted luxury consumers, genealogy buffs, and DIY-science geeks, among many others, and promised to tell us who we are, where we come from, and how we can live optimally. The trajectory of DTC genetic testing over the last dozen years offers science and technology studies (STS) scholars a rich site at which to examine institutionalization – the process by which objects or practices circulate in regulatory and other types of organizations and through this process come to be understood as normative or “regular” facets of the social world. The DTC genetic testing case is informative as well because it takes place in the context of today’s robust neoliberalism and thus sheds light on the effects of the twinned-forces of deregulation of various institutional domains concurrent with the diminution of social welfare programs for healthcare and other services (Moore, Kleinman, Hess and Frickel 2011). Additionally, the DTC genetic testing case provides a productive contrast with one of the more well-studied trajectories of institutionalization: the pharmaceutical market. With pharma, a significant aspect of the institutionalization process precedes the introduction of a product into the marketplace. When a drug enters the market, the product reflects the outcome of months or years of institutionalization, including in the form of laboratory science, clinical trials, the scrutiny of regulatory agencies (e.g., the United States Food and Drug Administration or FDA), and the framing of an illness and its treatment on the part of varied stakeholders (for example, social movements, patient advocates, and professional associations) (Epstein 1996, Dumit 2012). Both over-the-counter and prescription pharmaceuticals have been directly advertised to consumers for decades and, in some ways, this practice both anticipated and precipitated the rise of DTC genetics. The origins of DTC DNA services lie at the juncture of two sociotechnical processes – molecular biology and supercomputing; these institutional predecessors of today’s commercial genetic testing are analogous to some initial aspects of pharmaceutical development. Yet there are important differences in the institutionalization processes of these products that are worth noting: In contrast to pharma, the DTC genetic services industry was introduced by a set of actors – including businesspersons, investors, and scientists – whose scientific claims and products went mostly uninterrogated by outside reviewers or other types of checks and balances and received scant governmental regulation and ethical oversight. Consequently, efforts to institutionalize DTC DNA testing have mostly come after products and services have entered the marketplace. And, in contrast with pharma, customers and industry leaders have been able to play sizeable – if uneven – roles in this process. Whether institutionalization occurs before or after the introduction of a commercial product, it enables classification – the sorting of new or contested objects and entities into classes, categorical boundaries, or architectures of social meaning. Because the introduction of commercial DNA testing proceeded with little external oversight, the classification of this new commercial entity – by state and federal agencies, consumers, industry professionals, and others – remains in formation. Boundaries are actively under negotiation. With DTC genetic testing, institutionalization is evolving as the tests do, making the dynamics of this process readily observable by scholars. In the face of this regulatory lag, purveyors and consumers of DTC genetic testing may seek to shape the course of institutionalization. When enterprises and organizations are established with a low regulatory threshold, it may be the industry insiders themselves who initiate the institutionalization process. Anticipating regulation, they may seize the opportunity to set the terms of their own surveillance, as did some entrepreneurs who pioneered some of the first commercial genetic ancestry testing services in the United States (e.g., Kittles and Shriver 2004, also see Wagner 2012).On the other hand, genetic testing companies may capitalize on the lack of clarity about the classification of their products to resist institutionalization and create their own boundaries and norms: Some purveyors of DTC genetics have claimed that tests should be understood as personal, leisure pursuits that are non-medical or recreational and, therefore should not fall under the stringent regulatory schemes of agencies like the FDA (e.g., Lee 2013). Similarly, as we describe, consumers may want to keep regulatory institutionalization at bay for fear that it will restrict their access to genetic data, as was the case when federal agencies held hearings on DTC DNA testing several years ago. Consumers testified powerfully about their “right” to their own genetic information, free from government oversight (see our discussion below and also FDA 2010, Vorhaus 2010, Lee 2013). DTC genetic testing’s categorical dynamism presents STS researchers with a challenge. How can scholars study a social phenomenon that is in formation, that may defy classification, or that vacillates between numerous institutions and organizations? One tried-and-true strategy for dealing with this challenge is to fix an object and study it within a single institutional location. For example, medical sociologists are most likely to study diagnostic genetic technologies and may do so at a physician’s office or among one group of patients (Atkinson, Parsons and Featherstone 2001). But genetic data is never simply one kind of information. Even if the outcome of genetic testing is supposed to be solely for medical use, the inherent nature of DNA means that it also always contains information about one’s health and may also be deemed to be informative for ancestry inference or in a criminal justice setting, even if these uses are not intended. The growing, problematic use of “familial searching” in criminal investigations, such as that leading to the apprehension of the BTK and Grim Reaper serial murderers – that brings the relatives of crime suspects who are disproportionately members of poor communities of color, under unwarranted police surveillance – is a case in point. A flexible analytical approach is needed to account for the inherent characteristics of DNA that make it informative in numerous contexts and for the emergent, liminal nature of forms of DTC genetic testing. Much like the shift from sociology in medicine (e.g., sociologists serving an uncritical supporting role to physicians and medical education) to the sociology of medicine (a perspective that brings sociological approaches to bear on medical professions, claims, expertise, authority, etc.) (Chaska 1977), STS scholars should not take all of our analytic cues from the genetic testing industry and the categorical claims it makes about its DTC services. “The social life of DNA” (Nelson 2010, Wailoo, Nelson and Lee 2012) perspective is a more apt way of describing and analyzing the relatively recent phenomenon of DTC genetics. In keeping with anthropologist Arjun Appadurai’s methodological mandate that it is by attending to “the social life of things” – “things in motion” – that we can bring “human and social contexts” into view (Appadurai 1986), in this chapter, we track one DTC genetic test product in order to understand how meaning and norms accrue to it through this flow. Here we also follow Sarah Franklin and Celia Roberts’ elaboration of “the social life of PGD” (preimplantation genetic diagnosis) in their book Born and Made: An Ethnography of Preimplantation Genetic Diagnosis. Here the social life approach involves “researchers immers[ing] themselves in a range of different contexts to collect data about a particular object of inquiry, ‘following it around’ to build up a kind of hyperstack of definitions, images, representations, testimonies, description, and conversations…” (Franklin and Roberts 2006: xix). Franklin and Roberts offer a model of “how to account for the social dimensions of new biomedical technologies” (2006: xv) by thickly describing and analyzing these entities and their social circulation. Our understanding of the institutionalization of an emergent technology and social practice such as DTC genetic testing can be enhanced by the “social life” approach. Because DTC genetic testing is both emergent and transverses categories and boundaries, the descriptive and analytic moves proposed by Appadurai, Franklin and Roberts are apt. Moreover, for genetic testing in particular, a social life of DNA perspective can also help to highlight the symbolic qualities with which we imbue genes and which partly derive from its use as a social explanation in many fora simultaneously (Nelkin and Lindee, 1995). And, most importantly, this perspective attends to the particular physical properties of DNA that help to constitute how we make meaning of and with it. For, genes are omnibus; they contain multitudes. A social life of DNA perspective offers a way to conceive how the techniques and logics of genetics (especially, the centrality of ideas of kinship; bio-banks and the database; statistics and probability; and molecular scale) are engaged in myriad social projects that may both abide and confound institutionalization. A second property of genes is that they are transitional. Genetic tests and the data they yield move between institutions and organizations, being engaged in various uses ranging from “optimization” to health to “security.” A social life of DNA perspective also helps to account for the boundary blurring that attends the low institutionalization of DTC genetic tests and, by following the circulation of them at varied sites, helps to bring into relief how institutional boundaries take shape, recombine, and collapse. Additionally, following these tests and the contexts in which they draw meaning is precisely what allows us to see how DTC genetic testing does not abide the domains and boundaries that both entrepreneurs and social scientists – for very different reasons – endeavor to put around them. Focusing on the well-known genetic testing company 23andMe, this chapter charts one course of the institutionalization of DTC genetics. We first briefly describe the technical facets of the spectrum of DTC genetic tests and the socio-cultural meanings that they engender. Next, we describe the boundary crises produced around so-called “recreational” genetic tests that are not merely an idle pursuit and that, furthermore, do not abide the categorical distinctions. In the second half of the chapter, we explain the current framework for regulation of DTC genetic testing in the U.S., returning to the specific case of 23andMe and describing struggles over the regulation of this (and similar) company’s services. In closing we discuss what the regulatory struggles over 23andMe suggest about the institutionalization of new technologies.