Abstract
This paper focuses on two areas of innovation currently articulating the agenda of personalized medicine (PM): the discourse of empowerment in health-care reforms and the rise of molecular epigenomics. We align these two developments as discursive and technical resources, focusing on their nascent interplay in shaping alternative sociotechnical imaginaries of PM. Our work aims at inaugurating an intellectual programme on the distinct futures of policy- and identity-making that are being catalysed around epigenomic technoscience, as well as to provide an operational map of its potential synergies with pre-existing socio-political discourses of empowerment in PM. This roadmap advances our understanding of how the intersection of epigenomics with dominant policy discourses becomes a resource to shape roles and obligations of citizens, patients and health-care actors in the emergence of PM.
Keywords
Introduction
This paper focuses on two areas of innovation in contemporary biomedicine, empowerment-based health-care reforms and molecular epigenomics, aligning them as synergic resources for the rising discourse of personalized medicine (henceforth PM) (European Science Foundation, 2012; European Commission, 2013), and proposing a novel inroad for their mutual shaping. The reason for focusing specifically on empowerment-based health-care reforms and epigenomics, as well as for analysing them jointly, stems from the salient and partially overlapping features that both of them offer to the advancing yet still relatively inchoate agenda of PM.
First, the notion of empowerment is central to current proposals of healthcare reforms across Europe and worldwide (Colombo et al., 2012), with empowerment strategies widely regarded as suitable tools to accomplish the promise of PM (Prainsack et al., 2008; Juengst et al., 2012); tailoring health care to individual make-ups, largely harnessing the richness of molecular data to progressively refine preventive, diagnostic and therapeutic regimens. Most often, in the thrust of current health-care reforms, this molecularizing ambition proceeds hand in hand with a parallel paradigm shift; namely, that of progressively devolving responsibility for health from the state to the citizenry. Not surprisingly the language of empowerment has become increasingly flexible and often extremely controversial precisely insofar as it promises to hold together the power of contemporary biotechnologies in structuring new personalized and participatory approaches to the governance of health care, while at the same time emphasizing political commitments to a reduction of state-centred engagements with health care, often framed as a shift towards an individualized and consumerist vision of medicine (Veitch, 2010; Juengst et al., 2012; Richards et al., 2015). What still needs to be clarified, however, is whether empowering citizens has an intrinsic value (eg it is the right thing to do for well-established commitments to democracy, freedom and justice), an instrumental value (eg it is a seductive idea that functions as a legitimizing device for political transformations of the health-care system), or is driven solely by economic motivations (eg it fosters social responsibilities for the management and improvement of health with consequent reduction of health-care costs).
Second, the technoscientific repertoire of epigenomics is undoubtedly one of the most promising frontiers in contemporary biomedicine (Roadmap Epigenomics Consortium et al., 2015), for several reasons. For one thing, at its most ambitious, studying the epigenetic roots of health and disease is expected to make a decisive contribution to PM by providing the missing piece in the aetiological puzzle of most common diseases (Mill and Heijmans, 2013). Epigenomics promises to illuminate the link between specific genetic predispositions and the environment writ large (from lifestyles, to occupational exposures, to modes of parental care, etc.) at the basis of complex diseases (Ernst and Kellis, 2010), thus promising to capture and hopefully interpret both the transient and the enduring (and in fact even the transgenerational) interplay between genes and experience, biology and biography (Landecker and Panofsky, 2013; Meloni and Testa, 2014). As a consequence, developments in epigenomics are increasingly contributing to a promissory discourse that catalyses both several expectations and demands on citizens. From the promise of reversing aberrant epigenetic programming through the use of both natural compounds and synthetic molecules (Roadmap Epigenomics Consortium et al., 2015), to the identification and measurement of lifestyle's impact on health, the rise of epigenomics turns the genome into an eminently malleable developmental resource (Moss, 2004) and hence also a privileged level of actionable knowledge.
Beyond the two endeavours of scrutinizing the political tensions around empowerment and the emerging societal challenges of epigenomics, this paper explores the merit of anticipating how these two technologies of biomedical innovation can be productively intertwined, thus concurring to what — we envisage — is a paradigmatic example of co-production (Jasanoff, 2004) of their respective normative and epistemic orders. This analytical perspective (Jasanoff, 2004; Nowotny and Testa, 2011), applied here on the potential synergies between empowerment and epigenomics, can help us grasp how, in what we anticipate to be a near future, the political commitments and understandings entailed in the discourse of empowerment may find ‘epistemic and material correlates’ (Jasanoff, 2004: 3) in the language of molecular epigenomics. At the same time, the conceptual lens of co-production can symmetrically illuminate the multiple ways in which the rising science of epigenomics may structure and legitimize competing political narratives of empowerment, thus rendering its own repertoire of technoscientfic, social and ethical innovations a ‘key ingredient in making [the] social order’ (Jasanoff and Kim, 2009: 122) imagined by PM.
Several scholars have already emphasized how epigenomics intersects with research on and regulation of our social life (Dupras et al., 2012; Landecker and Panofsky, 2013; Pickersgill et al., 2013; Meloni and Testa, 2014). To these different accounts our work adds an anticipatory analysis of the synergies between empowerment and epigenomics within the political project of PM. In order to perform this conceptual movement from empowerment to epigenomics and back, we draw upon the co-productionist (Jasanoff, 2004) analytical tool of sociotechnical imaginaries (Jasanoff and Kim, 2009, 2013). Consistent with recent work on the sociology of expectations around epigenetics (Pickersgill et al., 2013), we use sociotechnical imaginaries as a means to uncover how anticipatory discourses and practices on epigenomics and empowerment-based medicine translate subjective dimensions of agency, biomedical knowledge, technological and political repertoires into concrete elements of the organizational and political narrative of PM. The data on which this discourse analysis draws are scientific articles, editorials and commentaries, along with media reports, policy documents and reform proposals across the EU relevant to the shaping of distinct futures for personalized health care in Europe.
Empowerment in PM: a brief genealogy of the concept
Updating health-care systems to the needs of our times, many scholars and policy-makers argue, also means to recognize the need for some critical empowering steps (Veitch, 2010; Colombo et al., 2012). As recently voiced in a Spotlight series of the British Medical Journal on ‘Patient Centred Care’ (Richards et al., 2015: 1), ‘[e]mpowered, engaged e-patients are growing a social movement and spearheading a shift in roles “as profound as women's liberation” [that] suggests we need a new science to understand and optimise the role of patients’. Devolving power to citizenry in health care is not only, in this view, motivated by political goals of open and participatory governance of medicine. Rather, empowerment is construed to entail also a technoscientific shift from ‘reactive’ to participatory, proactive, precise and preventive approaches to medicine (Auffray et al., 2010), to name just four of the most prominently defining ‘Ps’ of PM (European Science Foundation, 2012).
Citizen empowerment currently imagines a culture of positive consumerism in medicine, expecting citizens to gain ‘power’ by acting upon a wealth of information (eg genomic profiling, epigenomics, proteomics, metabolomics data) to choose among a range of health-care options (European Commission, 2013). Discussions around this highlight the multiple dangers of using interchangeably terms such as ‘patient’, ‘citizen’, and ‘consumer’ in regulating relationships among the actors of the health-care system (Curnutte and Testa, 2012; Prainsack, 2014; Goldstein and Bowers, 2015). On the one hand, as firstly argued by New Labour's proposal for reforming the UK National Health Service (NHS) in 2004, enabling citizens to ‘personalise their care’ is framed as affording them ‘the quality and convenience that they want’ (Department of Health, 2004: 9), and decentralizing public authority on healthcare decision-making. On the other hand, dissenting voices emphasize how ‘branding individuals as “consumers” could eliminate the most crucial element in the effective delivery of care: compassion’ (Goldstein and Bowers, 2015: 162), meaning that the linguistic shift in framing health-care users as ‘consumers’ is not neutral with respect to its potentially detrimental consequences on the roles, rights and reciprocal expectations of agents in a health-care system.
The recognition of empowerment as a flagship value for achieving this ‘patient revolution’ (Richards et al., 2013) is not surprising. With its origins in liberatory pedagogy, social psychology, mental health and health promotion (Freire, 1972; World Health Organization, 1978; Rappaport, 1987; Wallerstein and Bernstein, 1988), the concept is traditionally associated to the emancipatory ability of gaining mastery over an intended state of affairs. Specifically, this emancipatory ability has always been associated with the goal of developing the power-to control one's life or health, while at the same time liberating the subject from exercises of power-over him/her (Wartenberg, 1990). Power-over represented, in the minds of early empowerment scholars, a coercive or ideological power that keeps groups marginalized, whereas power-to was instead the capacity to steer change within one's social context (Laverack, 2005).
Indeed, precisely insofar as it promised to align these two different understandings of power, the empowerment approach was often considered as an ethical panacea in health promotion, especially in the case of community-based and marginalized groups. For it allowed imagining a third way in public health avoiding the pitfalls of both focusing only on individual liberty (as freedom from interference in personal matters such as health), and state intervention for the benefit of individual and community health (Taylor and Hawley, 2006; Tengland, 2012). Indeed, radical educationalists in the empowerment field questioned the very dichotomy between individual freedom in decisions concerning health and the importance of collective action in improving people's health. They advanced the idea that freedom or self-determination with regard to health concerns the power we have over ourselves, which manifests as a power to affect and transform our behaviours in the socio-political context in which we live (Tengland, 2012).
Yet, the last decade has witnessed a paradigm-shift in the language of empowerment in policy-making, that progressively reframed its original radical agenda through an increasing emphasis on individual choice and responsibility to act as consumers in healthcare (Veitch, 2010; Christens, 2013). Indeed, a wholly new interpretation of the concept has gained traction, explicitly reframing empowerment as a neo-liberal, bipartisan ideology in policy-making (Colombo et al., 2012). On the one hand, conservatives have come to view the approach as fostering a culture of private voluntarism in health care that minimizes the role and importance of state supervision with regard to health-related decision-making (Department of Health, 2010). On the other hand, new labour and socio-democrat politicians have framed empowerment as a renegotiation of public structures in support of citizens (Department of Health, 2004). Several analysts, instead, often regard the discourse of empowerment as a buzz word for implementing the political objectives of (1) devolving responsibility for health from the state to the citizenry, and (2) obliging citizens to contribute to the economic sustainability of the health-care system (Veitch, 2010; Juengst et al., 2012; Goldstein and Bowers, 2015).
The pinnacle of this paradigm shift in the political imaginary of empowerment can be found in the vision of PM at the European level (European Science Foundation, 2012; Shapiro, 2012; European Commission, 2013). PM combines in fact the political, neo-liberal shift in health-care institutions with a technological and biomedical platform (from genomics to epigenomics, proteomics and stem-cell therapies) that rewrites the meaning of individualization of care. The requirement of proactive agency in health care within PM is not only dictated by the adherence to a ‘core value’ of EU health-care governance (European Commission, 2007: 4); rather, PM increasingly invests the empowered agency with the discursive repertoire of individually tailored treatments and ‘-omic’ profiling. Only those patients ‘who are willing to participate fully can hope to’ take the advantage of the potential of PM to ameliorate their health (European Science Foundation, 2012: 17). Thus, the advent of PM stretches the discourse of empowerment across an unprecedented molecular and bio-technological breadth, aiming at moving biomedicine away for good from a one-size-fits-all approach through a repertoire of epistemic as well as political resources. In other words, it is only within the vision of PM that the political discourse of empowerment gets embedded in a socio- as well as technical imaginary (Jasanoff and Kim, 2009, 2013) of future health-care systems.
PM promises to tackle biological variability in disease development and treatment responses across the general population (European Science Foundation, 2012), by making visible (Nowotny and Testa, 2011) how our biological endowments uniquely contribute to individual health outcomes. By doing so, at the level of both epistemic mandate and technological core, PM offers prima facie a uniquely versatile enabling platform for the achievement of the political goals of empowering citizens. The versatility is manifest in the heuristic power of integrating data from all ‘omics technologies (eg genomics, epigenomics, metabolomics, proteomics, etc.) for the sake of ‘tailoring the right therapeutic strategy for the right person at the right time’’ (European Commission, 2013: 5; see also Hood et al., 2004). The defining feature of the contemporary life sciences — that is, the molecular visibility they provide for the molecular basis of health and disease (Nowotny and Testa, 2011) — ushers within PM a wide range of possibilities for guiding individual agency in understanding, managing and manipulating one's health. But just as the molecular visibility of our age does not only highlight ‘epistemic ruptures’ (Kuhn, 2012) but also deep-seated continuities in our sense of being in the flow of sociotechnical innovation, so also the PM agenda seems to entail a vision of technoscience and social order that aligns with those ‘old practices tested in social living’ (Nowotny and Testa, 2011: 1), such as the discourse of empowerment. By emphasizing the need to enhance citizens' responsibilities to turn the epistemic repertoire of molecular life sciences into health-related agency, PM is thoroughly in ‘continuity and commonality’ (Nowotny and Testa, 2011: 1) with recent interpretations of the social programme of empowerment:
Despite the assertion that medicine has always been personalised, it is clear that in many areas citizens have not felt that they are fully in control of the decisions made about their wellbeing. Personalised medicine could provide the means for citizens to exert more control over their health without having to rely directly on professional healthcare. […] This is a potentially empowering step for European citizens. The promise of empowerment, however, raises issues of health literacy, responsibility and access. (European Science Foundation, 2012: 17)
The caution rightly expressed here by the European Science Foundation on the potential untoward consequences of the empowering step in PM, displays plastically how biomedicine is, within this context, intrinsically normative, thus representing a paradigmatic example of how molecularizing systems of knowledge in PM and social configurations of the empowerment discourse co-produce (Jasanoff, 2004) their respective normative and epistemic orders. At the pinnacle of its ‘new wave’ in health-care policy-making, empowerment means attending to the aspirations of translating huge investments in ‘omic technologies into personalized medical practice. Correspondingly, this entails leveraging a specific type of citizens’ contribution to the success of this paradigm shift; one that underscores the strategic importance of responsibility, proactive agency and informed consumerism by biological citizens (Rose and Novas, 2005) for the success of this vision of medicine.
Wide ranges of experts and policy-makers have pointed out that this particular interpretation of empowerment challenges the ethical and political sustainability of the approach (Tengland, 2012). The ‘new wave’ of empowerment thinking in PM fundamentally subverts the ideas and values of its early ‘radical’ interpretation, whereby devolving power into the hands of individuals was deemed to be politically sustainable (Wallerstein, 2006) insofar as coinciding with a strong emphasis on social transformations, and the disruption of social configurations having power-over individuals (Rappaport, 1987).
This brief genealogy of the concept shows, therefore, how competing narratives of empowerment contribute to define the contours of the sociotechnical imaginary (Jasanoff and Kim, 2009, 2013) of PM, and — more importantly — how decisive biotechnologies have become in resolving the tension, or in fact tipping the balance between adversarial political repertoires. By aligning the requirement on citizens to take responsibility for health care to the epistemic repertoire and technological palimpsest of the molecular life sciences, the emerging imaginary of PM is not just the result of a broader emphasis on consumerism in health-care policy (Goldstein and Bowers, 2015). Rather, its biotechnological repertoire provides key enabling resources, discursive and material alike, for a specific programme of patient citizenship (ie the one envisioned in the ‘new wave’ of empowerment in health-care policy-making) to prevail over others (ie the radical agenda of early empowerment scholars). In the next section, we will explore the potential place(s) that epigenomics may occupy within this endeavour, in order to probe also its imaginative contribution to strengthening or challenging the connections between empowerment and PM.
Epigenetic responsibility for health: power, agency and the individualization of social policy
Interest for the epigenetic mechanisms involved in individuals' health has experienced an exponential growth over the past few years (Ebrahim, 2012). Currently, epigenetic knowledge is regarded as an integral part of our understanding of the multi-factorial nature of most morbidities in our societies (Mill and Heijmans, 2013), and promises to elucidate the relationship between genetic and non-genetic determinants of complex diseases. Beyond ‘simply’ cataloguing functional elements of the genome, this field is rapidly converging towards a comprehensive view of the nuclear ‘regulome’ (Rivera and Ren, 2013: 48) propelled by major technological advances. As recently exemplified by the landmark publication of the first 111 (out of several hundreds) reference epigenomes in diverse tissue types by the NIH-funded Roadmap Epigenomics Consortium (Roadmap Epigenomics Consortium et al., 2015), epigenome-wide studies are currently approaching the complete annotation of the human genome (and, increasingly, of real life personal human genomes) in terms not only of functional units but also of regulatory layers. The technological developments and the political commitments at the basis of the establishment of various research consortia in ‘epigenomics’ (eg the Roadmap Epigenomics Consortium, the ENCODE Project, the International Human Epigenome Consortium-IHEC, DEEP, Epigenesis, Blueprint and EPIGEN) are currently catalysing a wide range of expectations as to the contribution that this knowledge will bring to the understanding of human health and disease. In a nutshell, epigenomics holds the promise of finally putting the genotype into the context of the myriad of environmental triggers (broadly understood: from lifestyle, to environmental exposures, to stress levels, etc.) that contribute to any phenotype, and have long-lasting consequences for individual health (Landecker and Panofsky, 2013; Meloni and Testa, 2014). The question we face today is not therefore whether epigenomics may constitute an essential facet of the ‘personalization project’ in medicine but, rather, what we should investigate is the place of this technology within the vision of PM.
In this respect, it is worth noting how many aspects of epigenomics tinker with the most salient aspects of the imaginary of PM. Going beyond the rhetoric of PM that ‘starts with the patient’ (European Commission, 2013: 6), epigenomic studies could be framed as a molecular language that lumps biography and biology, and consequently stays with the patient throughout the whole lifespan. From lifestyle behaviours and environmental pollutants, to stress reactions and cognitive functions, epigenomics promises — and has already started — to provide a unified digital heuristics (Meloni and Testa, 2014) for measuring the complex interactions between the social and the biological in health and disease.
This monumental shift in the ontologies of both disease aetiology and health outcomes touches upon all of the major leaps forward imagined by PM. Thus, the stratification of patients based on their multiple and evolving epigenomic profiles (Costa, 2010), engages with the promise to optimize precision of therapeutic strategies across the specificities (both social and biological) of each individual. This aspect of epigenomic biomedicine intersects with — and fuels the development of — huge sociotechnical endeavours promising to move forward targeted treatments of many diseases both in Europe (Ciardiello et al., 2014) and the US (Collins and Varmus, 2015). As stated by a position paper of the European Society for Medical Oncology (Ciardiello et al., 2014), the detailed molecular characterization of patients, propelled by high-throughput technologies, is key to the development of targeted, personalized therapies improving outcomes of care and decrease toxicity of treatments (Ciardiello et al., 2014). Within this context, pharmaco-epigenomics has already started to provide significant breakthroughs and clinical applications, currently available to patients both in EU and the US, especially in the targeted treatment of diverse types of cancer (Mai and Altucci, 2009; Heerboth et al., 2014).
Developments in epigenomics are no less momentous when it comes to the preventive aspects of PM. The potential of epigenome mapping techniques to map the aberrant effects of environmental and lifestyle exposures hints at the possibility that individual epigenetic read-outs — at least those that are stable enough and can be captured reliably — may become commonplace in future medicine (Drewes, 2012). A simple blood test may thus constitute a viable means to monitor epigenetic patterning in its plastic responsiveness to environmental cues, providing precious knowledge for assessing disease risks throughout the lifespan, and for the development of personalized preventive strategies (vel Szic et al., 2015). If the costs of sequencing will continue to plummet, epigenome mapping (coupled with genome sequencing) may come to constitute an integral part of health-care routine for many patients from affluent countries, pointing at nutritional or other lifestyle adjustments that can reverse epigenetic marks related to lifelong disease risk (Mill and Heijmans, 2013).
Besides providing a molecular gaze on individual aetiology of complex diseases (Nowotny and Testa 2011), recent developments in epigenomics partake also to the socio-political unfolding of PM as a participatory and proactive model of medicine. As already argued by Meloni and Testa, opening up to the environment nurtures in fact an ‘expectation of change’ on the side of individuals: ‘the notion that once the genome has been downgraded from the high citadel of causal primacy, to the messy roundabouts of reactive developmental resources, biological fates become inherently reversible and porous to intervention’ (Meloni and Testa, 2014: 13–14). The juxtaposition of epigenomics to the imaginary of PM unveils, in other words, also its specific contribution at the level of socio-political innovation, and potentially to the resolution of adversarial political narratives in PM.
A technology of empowerment and responsibility
Epigenomics has already been framed as partaking in political discourses on biomedicine, by adding a number of additional, molecularly visible responsibilities to the sociotechnical imaginary of PM (Chadwick and O'Connor, 2013). This line of reasoning emphasizes how this knowledge allegedly enables individuals and institutions to ‘do something’ (Chadwick and O'Connor, 2013: 464) about the aberrant effects of lifestyles and environmental exposure (Hedlund, 2012). In this respect, epigenomics can be primarily read as providing the epistemic correlates and legitimisation to the well-established emphasis on responsibility for health, which — as shown above — often resorts to the language of empowerment.
This recognition has already fostered the attention of bioethical and biolaw scholars. Be it inflected, respectively, as accountability for damaging, or as endorsement to improve one's own epigenome (Rothstein et al., 2009; Hedlund, 2012; Chadwick and O'Connor, 2013), most authors agree that the molecular quantification of the effects of lifestyles on our health (one of the most far-reaching implications of epigenomics) could ‘make a change in degree’ in future policies wanting to sort out individual versus collective responsibilities for health (Hedlund, 2012: 178). We extend this analysis by adding that epigenomics is likely to make such a change in degree also at the level of the dominant policy controversies and empowerment discourses animating PM. The reason being that epigenomics can provide an unprecedented degree of molecular visibility (Nowotny and Testa, 2011) to the project of seizing power and responsibility over one's health. Rather than pointing to the association of a given behaviour (eg unhealthy eating) to a relevant health outcome (eg cardio-vascular diseases) like epidemiological data do (Rothstein et al., 2009), epigenomics is being framed as a carrier of precise knowledge into the molecular chain of events (or ‘conduit’; see Landecker and Panofsky, 2013) that starts from a certain lifestyle- and/or environmental factor and causally leads to disease development. For this reason, the language of epigenetics is deemed to have ‘significant implications for the extent to which people are in a position to make a choice about the kind of life they want to live’ (Chadwick and O'Connor, 2013: 465), and consequently for the prospect of seizing power, and thereby exercising responsibility, upon this knowledge. Precisely by making knowledgeable and visible the effects of our habits on our health, epigenomics becomes an enabling platform to anchor normative options of ‘what ought to be’ done (Nowotny and Testa, 2011: 6) down to the level of the ‘integrity’ of our epigenome.
The source of political legitimacy of epigenomics
The socio-technical controversies associated to the contribution of epigenomics to political narratives of responsibility and empowerment in PM will most likely unfold in the coming years. Though largely unpredictable, the trajectory of epigenomics in political discourses of biomedicine will depend on the articulation of this technology within existing policy objectives; namely, on whether, how and by whom this knowledge will be recruited at the policy-level, and on the technological options that the field will open up for health and biomedicine. This means that identifying the normative and socio-political premises guiding the societal accommodation of epigenomics may capture the very process of how social actors use this knowledge as an instrument for collective action. Indeed, evidences from different contexts point to the multifaceted processes of ‘co-production’ in which socio-political issues intertwine with knowledge-production, thus providing resolution to political and technoscientific controversies alike (Jasanoff, 2004). Following this approach, we take discourses on the potential of epigenomics as constituting an epistemic correlate (ie a repertoire of allegedly factual knowledge) for claims to individual responsibility for health (Hedlund, 2012), and we show that different political narratives of empowerment and responsibility provide, in turn, alternative structure and legitimization to the political uptake of this biotechnological endeavour. In turn, these alternative interpretations of the sociotechnical imaginary of epigenomics bring into relief the role of pre-existing social policy narratives in shaping not only the normative but also the epistemic orders arising within and around epigenomics once it is enrolled as enabling technology for PM.
We have already shown how contemporary EU policy-making is widely characterized by a pervasive shift towards the individualization of social policy in health care, of which the ‘new wave’ of empowerment is among its most paradigmatic examples. In brief, the empowering step in PM privileges a culture of private voluntarism in health care at its substantive foundations, which often conflates into a consumerist interpretation of the role of patients and citizens (Goldstein and Bowers, 2015). By doing so, this discourse operates a redistribution of power and agency in health care, which — we underscore — should be scrutinized as one of the sources of political legitimacy that is most likely to propel the translation of epigenomics into health care over the coming decade. It would be overly limiting to think, in other words, that the already-established connection between epigenomics and responsibility is not itself an instantiation of the broader and disputed cultural emphasis on the individualization of social policy (Prainsack, 2014) in PM, often employing the language of empowerment. Quite the contrary, the political milieu that nourishes the PM discourse provides cultural resources to construe the rise of epigenomics and its transforming power at the critical junction of biomedicine and health-care policy. Yet, we have also shown how discourses of empowerment should themselves be considered as no less disputed and open to competing closures than the rising technology of epigenomics. This means that both empowerment and epigenomics provide considerable space for adversarial imaginations of their respective socio-political and technoscientific structures. To this purpose, the following section of our work engages with a different interpretation of the potential interactions of these two discourses and their respective role in designing possible futures of personalized biomedicine.
Constructing different connections between empowerment and epigenomics
Recognizing that the expectations currently put on the normative upshot of epigenomics are in turn charged with the political premises and negotiations of dominant policy narratives of empowerment opens up considerable space for alternative sociotechnical alignments of practices and concerns stemming from these two discourses. In order to better illustrate a topography of alternative futures produced by the intersection of epigenomics and empowerment in PM, let us consider the following example of epigenetic research that acquired public salience and that provides us with a useful case study for capturing the competing emerging normative and epistemic orders around epigenomics.
A seminal study by McGuinness and colleagues (2012) has recently come to the attention of both media (McArdie, 2012; McLaughlin, 2012) and social analysts because of its proposal of methylation states as a ‘bio-dosimeter’ of socioeconomic status (SES) (Landecker and Panofsky, 2013). The study shows that levels of global methylation across the genome (ie total DNA methylation levels as a percentage of total DNA in the samples) mirror SES. While the study uses an admittedly still coarse inroad into the epigenome (global values of DNA methylation yet to be resolved into the more digitally actionable, sequencing-based knowledge of epigenetic differences and dysfunctions), we include it here as a salient example of the edge towards which epigenetic evidence is being integrated within ‘classically’ defined societal preoccupations. To show this, researchers investigated an already established cohort of subjects from a previous study, named ‘pSoBid’, which clustered citizens of Glasgow (Scotland) on the basis of ‘deprivation groups’. Blood samples from these participants were collected and then analysed for their levels of global methylation, revealing that SES, lifestyle factors (smoking, diet, housing, physical activity) and a set of biomarkers for increased risk to develop CVDs (eg blood pressure, cholesterol, glucose levels) correlate with epigenetic status, and that global DNA hypomethylation associates with the most deprived group of study participants (McGuinness et al., 2012).
A first reading of this study is obviously one combining rhetorics of individualization of social policy in health care (Shapiro, 2012) and the evidence that increased risk for CVDs is indeed quantifiable as an epigenetic damage brought about by voluntary conduct (such as smoking or diet). This reading is, for instance, evident in some of the media reports on this study, which emphasized how ‘poor lifestyle choices’ could impact the ‘genetic code’ of individuals and that of their children' (McLaughlin, 2012; The Scotsman, 2012). Remarkably, epigenomics is here recruited as imagining a future in which biotechnologies provide technological grounds to the need of an empowering shift, understood as a diffusion of citizen responsibility for shaping their health. In the words of The Scotsman, this ‘work helps explain the persistence of low life-expectancy figures in areas of Glasgow with high deprivation scores’, by showing how the ‘critical differential is lifestyle’ that has ‘a most influential bearing’ over health outcomes (The Scotsman, 2012). This reading plastically provides an example of how political narratives can recruit biological evidence to buttress a socio-political imaginary of individualization in contemporary health care.
Analysing the Glasgow study as an epistemic correlate of social emphasis on individual responsibility for health, we argue, enables to trace the socio-political uptake of epigenomics that reverberates back to its very epistemic tenets. Many epigenomic scientists agree in fact that it is debatable whether epigenomics will actually be able to disentangle the contribution of lifestyles to health from that of other environmental factors (Michels, 2010; Mill and Heijmans, 2013). This line of reasoning, which currently starts to gain empirical weight also in sociological analysis (see Pickersgill, this volume), emphasizes that careful attention should be paid to ways of communicating knowledge-production in the field of epigenetics, and to its translation into a model of responsible human behaviour. A rather different interpretation of this knowledge is in fact possible, which points to the epigenetically accountable interaction between lifestyles, environmental exposures and genetic background, as fundamentally blurring the boundary between these three players determining individual health (Meloni and Testa, 2014). From this perspective, the Glasgow study could thus be read as obfuscating — rather than illuminating — the border between what counts as genetic or lifestyle- and/or environmentally induced effect. Any health outcome is, in this view, only partly caused by lifestyle behaviours (Meaney and Szyf, 2005): a recognition that reverberates also at the level of epigenomics' alleged emphasis on individual responsibility for health. The epistemic value of assessing the contribution of biographical factors to epigenome-patterning gets, in other words, fundamentally downplayed if we frame epigenomics as one more layer of evidence in an integrated explanation of the interplay between environmental influences, thus establishing quite different normative and imaginative uptakes of this knowledge. Rather than striving to isolate an actor to be held responsible for each aberrant epigenetic influence, epigenomics may give us an appreciation of the structural factors (from genetic to behavioural and environmental ones) that together shape our health. Such an endeavour impacts decisively also the epistemic premises that are used to propel the social emphasis on individual responsibility, by exposing the important limitations of overly reductionist theories of biography as epistemic foundations for such claims.
Recognizing the complex entanglement of individual lifestyle and environmental conditions at the basis of aberrant health outcomes points thus to a distinct role for epigenomics in the policies propelling PM. The body, which constituted a locus for allegations of responsibility for unhealthy behaviours and lifestyles, gets reframed as a ‘local biology’ embedding ‘broader dimensions of space and time, history and politics’ (Lock, 2015: 161), which undermine simplistic causative explanations of lifestyle-related factors in aetiological mechanisms. This reading grows in opposition to a culture of individualization in health-care policy and may galvanize socio-political strategies, which are alternative to those reinforcing the emphasis on individual responsibility. In a nutshell, what we are proposing is a different interpretation of what epigenomics could do for empowerment discourses in health care, and for the dominant frameworks of policy-making in PM. Underscoring how the promise of epigenomics may be unveiling the molecular effects of lifestyles and environmental exposures in a unified read-out suggests a paradigm shift in our understanding of data, values and conceptual premises governing public health. This promising line of thought, which has attracted considerable interest in philosophical, epidemiological and social work studies (Jablonka, 2004; Combs-Orme, 2013; Loi et al., 2013), casts epigenomics as pursuing a quintessentially digitizing discourse, embedding and translating complex social categories such as health and disease, biological predispositions and social conditions of disease, health inequalities and disadvantages into genome-compatible digital maps of DNA methylation, chromatin modifications and gene expression (Meloni and Testa, 2014). As stated also by some media reports (McArdie, 2012), the study by McGuinness and colleagues could explain the ‘riddle of poor health in Glasgow’ and is thus an example of how biographies and community-membership, social structures and political barriers enter as tractable developmental resources into that porous molecular conduit that connects our genome to its environment. This is a thoroughly different narrative — potentially alternative to the one emphasizing the role of epigenomics in individualizing responsibilities for health — which becomes also a normative one when regarded as a premise for the development of public policies (Landecker and Panofsky, 2013).
In particular, this framing of epigenomics' understanding of the social and biological roots of health and disease outlines a promising social programme when juxtaposed to the substantive foundations of empowerment we problematized in this work. The blurred ontologies of cause and effect, of environmental and lifestyle-related effects over health highlighted in the Glasgow study are an example of the power of this biotechnological endeavour to catalyse different socio-political, empowerment strategies in PM. While providing comprehensive information on one's health disadvantages and social deprivations (Vineis et al., 2014), epigenomics can illuminate the limitations of one's power-to remedy to health problems, as something essentially tied to the power-over our health structured and constrained by societal and institutional arrangements. Epigenetic knowledge may thus provide insightful knowledge of how broader social phenomena and determinants affect health (Wilkinson and Marmot, 2003; World Health Organization, 2013), championing a substantive shift in which empowering citizens with regard to their health means promoting an emancipatory ability (entailed in the originally radical understandings of empowerment) to affect epigenetically accountable physical and cultural environments (Freire, 1972), rather than instating a consumerist culture of responsibility in medicine.
By bringing into relief such an alternative ‘empowering step’, our analysis shows how adversarial interpretations of the role of epigenomics in PM can let us imagine different biomedical futures. On the one hand, we pointed at the political premises of biomedical social policy that may bear upon the features of epigenomic knowledge partaking to the sociotechnical domains of PM. On the other hand, we showed how — once we recognize this — the interplay of normative and epistemic dimensions of epigenomics opens up different applications of these biological findings to social policy. Rather than lending itself to the political objective of inculcating responsibility for health, epigenomics can become — through the lens of our account — a technoscientific repertoire that inspires collective power-to produce political change as to the environmental and societal conditions that have a power-over individual health.
Conclusions
The policies, media reports and scientific articles we analysed above provide uniquely informative sites for scrutinizing how empowerment and epigenomics may contribute to alternative sociotechnical imaginaries (Jasanoff and Kim, 2009, 2013) of PM. We believe that the arguments presented here are useful to advance our understanding of how, as the connection between these two technologies starts gaining more empirical relevance, their respective socio-political dimensions and epistemic correlates will be combined. The different framings of epigenomic evidence and empowerment discourses presented here are in fact likely to have a fundamental bearing upon the roles and obligations of agents in the emerging vision of PM, including quite possibly on our self-understanding as citizens, patients and health-care consumers. One possibility of governing the unfolding of epigenomics within the epistemic and normative orders of this endeavour is thus to intersect the analysis of this emerging technology with that of dominant policy discourses, such as the language of empowerment. This theoretical, forward-looking move provides an operative map to chart epigenomics' alignment with pre-existing socio-political discourses such as empowerment.
Settling the normative uptakes of epigenomic innovation depends very much — we showed — on the junctures that it will establish with pre-existing narratives in social policy of biomedicine. The contestations currently happening at the level of empowerment in PM — we posited — will most likely intertwine with the uncertainties and controversies regarding the regulative normalization of epigenomics, hence constituting the ‘upstream’ political premises shaping the societal dimensions of this field of biomedicine. At the same time, our analysis has underscored how there is a potential of exploring different visions of social order within PM — and its commitment to the language of empowerment — which are embedded in, as well as potentially enabled by epigenomic technoscience. The enactment of discourses on the molecularization of biography (Niewöhner, 2011) produced by epigenetics, is in fact an adjacent source of political imagination for social policies in healthcare and biomedicine that shy away from dominant consumerist visions to embrace, within PM, the radical seeds from which the empowerment discourse originally flourished.
As documented by other authors in this volume (see Pickersgill's and Landecker's contributions), both knowledge-production in epigenomics and its connection to health and policy discourses is currently a burgeoning field of reflexive engagement for social scientists, biologists and policy-makers. No doubt these academic debates will contribute to set the template of ontologies and political claims stemming from epigenomics. This co-production of epigenetic science and health-care policy is central also to our analytical effort, and for this reason, this paper can be read in two complementary ways. On the one hand, as warning citizens, analysts and policy-makers about the political premises that will most likely carve the space and template for epigenomics on the basis of the currently prevailing ‘late’ version of the empowerment discourse, emphasizing individual responsibility for health in PM. On the other hand, our analysis aimed at fleshing out the role and importance of biotechnologies in processes of collective social experimentation. Once we plunge — quite literally — into epigenetics as ‘code’, with its digital representation enabling reciprocal cultural-biological translations around health, we are also able to envisage its fecundity for the enrichment of ongoing political debates on power in biomedicine.
The analytical gaze we cast on the interactions between epigenomics and empowerment has therefore also an intrinsic performative role, which blurs the boundary between our role as analysts and actors. Indeed, our work may be regarded as an example of analysis in which the social and the biomedical collapse, where epigenomics ceases to be ‘simply’ a case study and turns into a locus of mutual engagement for testing — and possibly challenging — political and epistemic orders in biomedicine. As such, we hope this paper will be regarded also as a topography of alternative ways of adjudicating the epistemic and normative options at the basis of two technologies of biomedical innovation — that is, the empowerment discourse and molecular epigenomics — providing structure to the sociotechnical future of PM.
Footnotes
Acknowledgements
This work was supported by the Italian National Research Council (CNR) Flagship Project on Epigenetics ‘EPIGEN’ through its special Programme on Dissemination and Health Care Policy. The authors wish to thank Maria Damjanovicova for discussions on the Glasgow case.
