Adam Hedgecoe

This article draws on 2 years’ worth of ethnographic observation of team meetings to explore decision‐making in an NHS clinical genomics service. The focus of discussions was on ambiguous genomic results known as VUS or Variants of Uncertain Significance, which may be pathogenic but which also may turn out to be benign. In examining decision‐making around such results, we note how, in contrast to much policy and promotional material in this area, clinicians in these meetings (clinical geneticists and genetic counsellors) place great emphasis on parental phenotypes and whether the parents of a patient share the symptoms and signs of the suspected condition. This information is then combined with the result of genomic tests to decide whether the variant a patient has is responsible for their condition. This article explores the way in which clinicians attempt to flexibly enrol parents into genomic explanations through informal diagnosis of their possible phenotypes and the way in which actually meeting parents allows some clinicians to trump explanations based on documentary or photographic data. The paper sheds light on the way that earlier scholarly understandings of such decisions (around, say dysmorphology) remain relevant and explores claims that laboratory tests overrule clinical decision‐making.

In genomics, the clinical application of Next Generation Sequencing technologies (such as Whole Genome or Exome Sequencing) has attracted considerable attention from UK policymakers, interested in the benefits such technologies could bring the National Health Service. However, this boosterism plays little attention to the challenges raised by a kind of result known as a Variant of Uncertain Significance, or VUS, which require clinical geneticists and related colleagues to classify ambiguous genomic variants as ‘benign’ or ‘pathogenic’. With a rigorous analysis based on data gathered at 290 clinical meetings over a two-year period, this paper presents the first ethnographic account of decision-making around NGS technology in a NHS clinical genomics service, broadening our understanding of the role formal criteria play in the classification of VUS. Drawing on Stefan Timmermans’ concept of ‘reflexive standardisation’ to explore the way in which clinical genetics staff classify such variants this paper explores the application of a set of criteria drafted by the American College of Medical Genetics and Genomics, highlighting the flexible way in which various resources – variant databases, computer programmes, the research literature – are drawn on to reach a decision. A crucial insight is how professionals’ perception of, and trust in, the clinical practice at other genomics centres in the NHS, shapes their own application of criteria and the classification of a VUS as either benign or pathogenic.

This paper explores how a particular form of regulation—prior ethical review of research—developed over time in a specific context, testing the claims of standard explanations for such change (which center on the role of exogenous shocks in the form of research scandals) against more recent theoretical approaches to institutional changes, which emphasize the role of gradual change. To makes its case, this paper draws on archival and interview material focusing on the research ethics review system in the UK National Health Service. Key insights center on the minimal role scandals play in shaping changes in this regulatory setting and how these depend upon the absence of a single coherent profession (and accompanying social contract) associated with biomedical research.

The intensification of an audit culture in higher education is made no more apparent than with the growing prevalence of performance-based research funding systems like the UK’s Research Excellence Framework (REF) and the introduction of new measures of assessment like ‘impact’ or more specifically, the economic and societal impacts of research. Detractors of this regulatory intervention, however, question the legitimacy and credibility of such a system for, and focus within, the evaluation of research performance. Within this study, we specifically sought to understand the process of evaluating the impact of research by gaining unique access as observers of a simulated impact evaluation exercise populated by aproximately n = 90 senior academic peer reviewers and user assessors, undertaken within one UK research-intensive university prior to and in preparation of its submission to REF2014. Over an intensive two-day period, we observed how peer reviewers and user assessors grouped into four overarching disciplinary panels went about deliberating and scoring impact, presented in the form of narrative-based case studies. Among other findings, our observations revealed that in their efforts to evaluate impact, peer reviewers were indirectly promoting a kind of impact mercantilism, where case studies that best sold impact were those rewarded with the highest evaluative scores.

Drawing on scholarship around academic freedom and new public management, this article explores the way in which research ethics committees in UK universities (URECs) can come to exhibit behaviour – common in their US equivalents – that prioritises the reputational protection of their host institution over and above academic freedom and the protection of research subjects. Drawing on two case studies the article shows both how URECs can serve to restrict research that may be ‘embarrassing’ for a university and how, in high profile cases, university management come to use such committees as mechanisms for internal discipline.

Focusing on the high-profile drug disaster at London’s Northwick Park Hospital in 2006, this article explores how such an event can be seen as an example of organizational deviance co-constructed between the company running the research and the research ethics committee which approved the trial. This deviance was the result of the normalization of a specific dosing practice in the broader regulatory field, allowing the researchers and regulators to take a risky dosing strategy for granted as best practice. Drawing on the work of Diane Vaughan, this article uses interview data with researchers and members of the research ethics committee concerned as well as documentary material, to show how work group cultures between regulators and those they are intended to oversee are maintained, and how the culturally embedded assumptions of such work groups can result in organizational and regulatory deviance.

While trust is seen as central to most social relations, most writers, including sociologists of science, assume that modern trust relations – especially those in regulatory relationships – tend towards the impersonal. Drawing on ethnographic material from one kind of scientific oversight body – research ethics committees based in the UK NHS – this paper argues that interpersonal trust is crucial to regulatory decision-making and intimately bound up with the way in which these oversight bodies work, and that as such they build on, rather than challenge, the trust-based nature of the scientific community.

Over the past few years, considerable interest has been paid to the way in which social expectations (hopes, hypes, fears) about new genomic technologies help shape, and in themselves are shaped by, emerging technologies, regulatory regimes and social concerns. In comparison, little attention has been paid to the role of expectations in related, but non-scientific discourses, such as bioethics. Drawing on a review of publications addressing the ethical issues associated with pharmacogenetics, this paper presents a detailed critique of bioethicists’ contribution to these debates. The review highlights how, almost a decade after bioethical debate around pharmacogenetics started, and in contrast to the profession’s self-perception as a form of regulator, bioethicists still largely restrict themselves to reviews of possible ethical issues raised by this technology, rather than critiquing others’ positions and arguing for specific points of view. In addition the paper argues that bioethicists tend to: accept unquestioningly scientists’ expectations about the development and ethical issues raised by pharmacogenetics; ignore contributions from bioethicists who do question these expectations; and engage in an ethical debate, the boundaries of which have been laid down and defined by academic and industry scientists. The paper concludes by offering some possible explanations for why the bioethical discourse has taken this form.

Given the centrality of ethics review by independent committees (called Research Ethics Committees, or RECs, in the UK) to modern biomedical research, and the ubiquity of complaints about such review on the part of researchers, it is curious that little attention has been paid to these organizations by medical historians in contrast to the work done on the role of institutions such as the British Medical Association (BMA) and the General Medical Council (GMC) in the development of medical professional ethics, and the general evolution of medical professionals' ethical values. Thus while some work has explored the origins of modern medical ethics teaching in the UK and the parallel development of academic bioethics, there has been very little consideration of how Research Ethics Committees specifically were set up and evolved in the late 1960s and early 1970s. Although some scholars have discussed the development of the British REC system, this work tends to provide little beyond an outline of major events. These might include a report from the Royal College of Physicians (RCP) in 1967, the Department of Health's ‘Red Book’ of 1991 outlining the responsibilities of Local Research Ethics Committees (LRECs) and, more recently, the introduction of multicentre RECs (MRECs) in 1997.