Paper short abstract:

National efforts to compile Whole Genome Sequence (WGS) data has led to novel research - clinical hybrids. Drawing on ethnographic observations at the coal-face of this hybrid entanglement this paper attempts to make sense of the transformation of Macro genomic data to individual patient diagnosis.

Paper long abstract:

At the center of large national genome sequencing research projects is the ontological tension between the aggregated and the individual or the frontiers of knowledge and individual patient care. This paper discusses the configuration of the macro and micro as a hybrid assemblage. Such an assemblage creates a novel paradigm for evidence based medicine where the patient or family becomes a data point in the evidence drawn upon in their own clinical care.

Drawing upon Ethnographic observations of clinical practice relating to a national genome project, including observations of local multi-disciplinary team meetings in which the data from a large genome research project are interpreted for individual patient diagnosis. Within these meetings the macro and micro genome are brought together creating a hybrid assemblage, in which multiple entangled forms of socio-material agency intra-act in practice. This paper examines the ontological negotiation practiced in these meetings for the purpose of producing a clinically applicable outcome.

The implications of this paper are twofold; it firstly reimagines personalized genomics in which increasing amounts of data are seen to increase the accuracy of individual WGS test results. Secondly, through the analysis of this situated entanglement this paper constructs an understanding of agentic relativism, in which material agency is enmeshed within the institutional conditions under which it is enacted.

Paper short abstract:

Biobanks and data repositories of Nordic countries have been identified as "goldmines" for personalized medicine. Population data is seen to enable economic growth, better health and sustaining of welfare services. We analyse and compare Nordic strategies and visions of goldmining population data.

Paper long abstract:

The biobanks and data repositories of Nordic welfare states have been identified as "goldmines" for the development of personalized medicine. It is expected that the individual Nordic countries as well as the whole region could offer unique health and welfare data that attracts international investments and paves way for these countries to be world-leaders in biomedicine. Harnessing the potential of data is seen as the essential precondition for both economic growth, sustaining of welfare services and improvement of personal and population health. Long history of systematic register keeping in the Nordic countries, unique population and personal identification number that enables easy combination of data are seen as distinctive assets in each Nordic country. New infrastructures and strategic visions are being implemented to further the collection, integration and use of data.

We investigate this necessity of the Nordic countries to become forerunners in biomedicine through health and welfare data by analysing the strategies, policies and visions of individual Nordic countries and their common cooperative organisations. We examine different values placed on the genetic heritage of population and population data by addressing dimensions such as uniformity and diversity, global and national, or cooperation and competition. While the countries develop competing strategies and brand the usefulness of their population data in different ways, they simultaneously cooperate and strive towards increased co-operation on data use. Even more importantly, the cooperation is expected to increase international attractiveness of the whole region as the data mass multiplies with Nordic cooperation.

Paper short abstract:

This paper considers how researchers make decisions about the actionability of specific datasets and the degree to which such data can be considered to be trustworthy. To this aim, we discuss the case of COSMIC, a leading data infrastructure in cancer genomics which aggreates a large amount of data.

Paper long abstract:

Precision medicine aims at leveraging digital technology capabilities to achieve unprecedented levels of granularity of its levels of description. For instance, genome sequencing can be used to investigate relations between features of tumour cells and observed abnormalities, discover causal relations and correlations, and develop targeted therapeutic strategies. However, difficulties in managing the enormous amount of relevant data being produced by researchers around the world continue to undermine data-centred discovery and therapeutic development. This is particularly evident when looking for evidence to identify which entities should be targeted, and how (an issue typically referred to as 'actionability' of data by practitioners).

This paper considers how researchers make decisions about the actionability of specific datasets and the degree to which such data can be considered to be trustworthy. To this aim, we discuss the case of COSMIC, a leading data infrastructure in cancer genomics which aggreates a large amount of data sources, ranging from literature to screen repositories and functional information about cancer at various levels of description including gene, individual mutation, methylation and drug resistance. COSMIC occupies a central position in the path towards precision oncology. It is used by many research groups both for exploratory analyses and in drug or diagnostic development pipelines, and it has a strong reputation as a reliable one-stop source of genomic evidence for clinical use. On the basis of extensive research on COSMIC curation practices carried out between 2015 and 2017, we identify and discuss the grounds on which such trustworthiness has been developed and maintained.

Paper short abstract:

This paper traces efforts to roll-out a new diagnostic - FENO - into primary care in the NHS. Configured as part of a package relating to precision asthma medicine, we trace how different interest groups have promoted, shaped, and contested FENO and precision asthma medicine more broadly.

Paper long abstract:

This paper tracks recent efforts to embed a controversial diagnostic technology into UK primary healthcare. In 2014, NICE published guidelines recommending FENO (Fractional Exhaled Nitric Oxide) devices be rolled-out in the diagnosis and management of asthma across primary care. The breathing test kit provides GPs with sub-clinical biomarker scores which are said to be predictive of an individual's likely steroid responsiveness. More broadly, the guidelines promise to push GPs away from symptom-led and trials of treatments-based management (said to be responsible for over-diagnosis and overprescribing of inhaled steroids), towards a more objective means of diagnosing and managing patients according to underlying disease pathways. However, this move towards "precision medicine" has so far generated heated responses among many primary care professionals. Based on documentary analysis and interviews with members of key interest groups, we pinpoint at least three tensions emerging between the precision medicine movement and existing ways of diagnosing, managing, and administering asthma care. The first centres on the contested politics of evidence surrounding use of FENO in primary care, owing to ambiguity between NICE and existing clinical guidelines. A second controversy relates to accountabilities of cost: NICE's economic models argue cost savings will be made to the NHS overall, yet GP practices are expected to purchase the expensive piece of equipment from their budgets. Finally, by privileging the diagnostic test above clinical judgement, the push towards promoting FENO as part of a broader precision medicine configuration requires redefining expertise and professional identities of GPs in relation to asthma diagnosis.

Paper short abstract:

This paper aims to examine how Taiwan Biobank engaged with publics and dealt with the controversy. We argue that Taiwan Biobank lacked the "upstream public engagement" imaginary and the legalization of ethics and governance became the approach for settling controversy.

Paper long abstract:

With the concept of "scientific imaginaries of publics", this paper examines how Taiwan Biobank, the large-scale and population-based national biobank, engaged with publics and dealt with the controversy. First, this article argues that Taiwan Biobank's implementation of public communication was mainly aiming for scientific recruitment, which did not engage multiple publics to further reflect on different civic epistemologies against Taiwan Biobank. This reflected the imaginary of a singular deficit public that must be further educated and informed in order to be altruistically participated. Second, the public controversy reveals a picture of the "missing publics". The public controversy happened between scientists, some non-governmental organizations and social scientists. These actors spoke for the public, but their interventions were not based on general-public perspectives or intended to initiate genuine public engagement. Third, the Ethics and Governance Committee of Taiwan Biob

ank is legally responsible for monitoring Taiwan Biobank on the public's behalf; however, its independence and social legitimacy have been questioned, causing further problems for its democratic governance. This article argues that Taiwan Biobank lacked the "upstream public engagement" imaginary to include multiple stakeholders to debate on the normative commitments of Taiwan Biobank. Actors with different values and public imaginaries resorted to the media, which did not resolve conflicts or enhance mutual understandings. The legalization of ethics and governance became the approach for settling controversy and seeking social consensus; this approach has subsequently shaped the specificity of scientific governance in Taiwan.

Paper short abstract:

Precision medicine targets individual specificity by analyzing populations commonalities. My paper investigates how, vice versa, analyses on individual specificities are used to target population health interventions, and the extent to which cohort participation is promoted as a matter of altruism.

Paper long abstract:

Precision medicine builds on the collection and the comparison of multiple "big data" from large cohorts, to put specific health onsets in relation to specific conditions by taking advantage from the large scale, with the aim to facilitate the precise understanding and intervention at the individual scale. In some sense, precision medicine targets the unicity of the individual by grounding on analyses on the commonalities of populations. My paper investigates the extent to which, conversely, analyses on individual specificities are expected to contribute targeting population health interventions, as envisioned by the framework of 'precision public health'. In relation to this, I analyze the extent to which the possible contribution to the health of a whole population/community is emphasized as a motivation for sharing data and enrolling in precision medicine cohorts, especially in terms of altruism or solidarity, as opposed to other sorts of motivation/incentivization (Tutton&Prainsack 2011).

My paper analyzes the discourse of altruism and of population health benefits within two leading precision medicine projects: the 100K Genomes Project (UK), and the All of Us Research Project (US).

From my analyses (document analyses and fieldwork interviews), it emerged that different framings of precision medicine encompass different potentials in terms of social or health benefits for populations. Controversial discourses of altruism recur to motivate participation in the cohort, alternating with discourses of empowerment. I argue that, the value of solidarity, if consistently integrated in those framings of precision medicine most genuinely addressing population health, can facilitate inclusive participation and benefits.

Paper short abstract:

The paper critically discusses the expectation, frequently expressed in the field of personalized psychiatry, that research into biomarkers leads up to a double destigmatization - of patients suffering from mental illnesses and the psychiatric discipline alike.

Paper long abstract:

Narratives of the successful application of precision (or personalized) medicine in clinical practice today mainly relate to the field of oncology. Personalized psychiatry, while sharing the objective of more precise diagnosis and "tailored" treatments, seems to struggle much harder for identifying (genomic, proteomic, neuro-imaging) biomarkers that actually translate into the clinic (or the market for this purpose).

Biomarkers are thought to finally turn mental illnesses into measurable, provable entities, entities that are rooted in the biological human body. Researchers and practitioners in the field frequently express their hope that such a biomarkerization consequently leads up to a (double) destigmatization process: The stigma weighing on patients who suffer from those illnesses, as yet assigned a rather metaphysical quality, might be lifted from their shoulders. In addition, psychiatrists articulate the expectation that finding biological interpretations for mental illnesses will not only destigmatize their patients, but also psychiatry itself - eventually becoming fully recognized as a medical discipline.

Will the biological marker put an end to social stigmatization? Based on document analysis and interviews with mental health professionals the presentation outlines the general argument and critically discusses the double destigmatization potential of biomarker research in psychiatry.

Paper short abstract:

This presentation analyzes some anxiety treatment strategies defined in Uruguayan public health system and their implementation difficulties at micro level. In benzodiazepine prescription practices recommendations about consumption time cannot be taken into account when the doctor meets the patient.

Paper long abstract:

This presentation analyzes some narratives of benzodiazepines prescribers and consumers in Uruguay, a small Latin American country where these psychopharmaceuticals have become easily available to the population.

Drawing on a combination of document studies, focus groups and in-depth interviews with 73 benzodiazepine prescribers and users of public health care in Uruguay, we explore some narratives about prescription practices of benzodiazepines. In these narratives we found out that some treatment strategies fail on the micro level. Personalized practices focused on tailoring treatments to specific needs induce some patients to hold benzodiazepines consumption much longer than what the health policies establish.

We found that the assumption of precision medicine about continuity between molecular individual characterizations to population-wide can be questioned, especially in certain social environments. There are some social and economic factors like domestic and neighborhood violence and deprivation, certain monoparental family configurations, performance requirements for workers and students and others that affect consumption practices of benzodiazepines and puts into question the medical practice as well as individual decisions about these drugs.

The narratives of prescribers and consumers show dilemmatic situations that the doctors have to deal with when they continue prescribing a medicine bypassing what the treatment strategy recommendations says. This raises questions about how medical strategies are designed and how they can be truly customized.

Paper short abstract:

A relational view of patients was proposed against the focus on molecular aspects of disease in new biomedical practices that decontextualizes patients. I examine possibilities of accounting for wider contexts in such practices, using a qualitative case-study of a personalized cancer clinical trial.

Paper long abstract:

The focus on genomic and other molecular 'omic' facets of disease as keys for treatment in personalized medicine, has been criticized as reductive and as uprooting patients from wider contexts. Instead, a relational understanding of personhood was proposed. Patients are not only embedded in multiple social, political and environmental contexts. They are constitutively 'becoming with' bacteria, fetal cells, larger organisms, environments etc. It is claimed that if incorporated into clinical practice, such an approach may lead to better outcomes.

Here I draw on a case-study of a personalized cancer clinical trial to reflect on the possibility of such an approach in new configurations of medical practice. The trial makes use of predictive information technologies to tailor suitable therapies for each patient, matched according to identified alterations in DNA in pathological tissues, or by identifying dysregulated genes compared between normal and abnormal tissues.

A qualitative analysis of clinical decision-making processes in the trial shows that, despite personalized medicine's vision of encompassing all the patient's life aspects into tailored, precise and effective interventions, the need to produce clinical solutions takes preference over relationality. As cancer clinical trials increasingly rely on algorithms for matching therapies, based on molecular variation, decontextualizing effects on personhood are exacerbated. The result is less 'precise' medical practices then initially intended. I argue, that the use of predictive information technologies processing molecular data to produce treatment options, therefore challenges the possibility of relationality in practice. I examine whether and how wider contexts can be accounted for in similar endeavors.