Co-creating a knowledge base in the “22q11.2 deletion syndrome” community

22q11.2 DS is characterised by its variability, rarity and variety of features ranging from congenital heart conditions to psychiatric and behavioural issues. As a result, health information–seeking behaviour is different from other more common conditions. An exploratory study was carried out to understand how parents access information and support, and how that information is shared. Qualitative interviews were carried out with families and support group representatives, and thematic analysis was applied. Four main themes emerged from our findings: perceptions of clinical expertise, parent empowerment, support group activities and community building via an Internet platform. Our thematic analysis enabled the construction of a possible model of information-seeking behaviour in parents and carers of children with 22q11.2 DS. We discuss the model and how the understanding of how information is shared and gathered can aid in clinical practice

Inscribing a discipline: tensions in the field of bioinformatics

Bioinformatics, the application of computer science to biological problems, is a central feature of post-genomic science which grew rapidly during the 1990s and 2000s. Post-genomic science is often high-throughput, involving the mass production of inscriptions [Latour and Woolgar (1986), Laboratory Life: the Construction of Scientific Facts. Princeton, NJ: Princeton University Press]. In order to render these mass inscriptions comprehensible, bioinformatic techniques are employed, with bioinformaticians producing what we call secondary inscriptions. However, despite bioinformaticians being highly skilled and credentialed scientists, the field struggles to develop disciplinary coherence. This paper describes two tensions militating against disciplinary coherence. The first arises from the fact that bioinformaticians as producers of secondary inscriptions are often institutionally dependent, subordinate even, to biologists. With bioinformatics positioned as service, it cannot determine its own boundaries but has them imposed from the outside. The second tension is a result of the interdisciplinary origin of bioinformatics – computer science and biology are disciplines with very different cultures, values and products. The paper uses interview data from two different UK projects to describe and examine these tensions by commenting on Calvert's [(2010) “Systems Biology, Interdisciplinarity and Disciplinary Identity.” In Collaboration in the New Life Sciences, edited by J. N. Parker, N. Vermeulen and B. Penders, 201–219. Farnham: Ashgate] notion of individual and collaborative interdisciplinarity and McNally's [(2008) “Sociomics: CESAGen Multidisciplinary Workshop on the Transformation of Knowledge Production in the Biosciences, and its Consequences.” Proteomics 8: 222–224] distinction between “black box optimists” and “black box pessimists.

Genetic counselling for psychiatric disorders: accounts of psychiatric health professionals in the United Kingdom

Genetic counselling is not routinely offered for psychiatric disorders in the United Kingdom through NHS regional clinical genetics departments. However, recent genomic advances, confirming a genetic contribution to mental illness, are anticipated to increase demand for psychiatric genetic counselling. This is the first study of its kind to employ qualitative methods of research to explore accounts of psychiatric health professionals regarding the prospects for genetic counselling services within clinical psychiatry in the UK. Data were collected from 32 questionnaire participants, and 9 subsequent interviewees. Data analysis revealed that although participants had not encountered patients explicitly demanding psychiatric genetic counselling, psychiatric health professionals believe that such a service would be useful and desirable. Genomic advances may have significant implications for genetic counselling in clinical psychiatry even if these discoveries do not lead to genetic testing. Psychiatric health professionals describe clinical genetics as a skilled profession capable of combining complex risk communication with much needed psychosocial support. However, participants noted barriers to the implementation of psychiatric genetic counselling services including, but not limited to, the complexities of uncertainty in psychiatric diagnoses, patient engagement and ethical concerns regarding limited capacity

Organizational Discourse: Domains, Debates, and Directions

Interest in the analysis of organizational discourse has expanded rapidly over the last two decades. In this article, we reflect critically on organizational discourse analysis as an approach to the study of organizations and management, highlighting both its strengths and areas of challenge. We begin with an explanation of the nature of organizational discourse analysis and outline some of the more significant contributions made to date. We then discuss existing classifications of approaches to the study of organizational discourse and suggest that they fall into two main categories: classifications by level of analysis and classifications by type of method. We argue that both of these approaches are inherently problematic and present an alternative way to understand the varieties of approaches to the analysis of organizational discourse based on within domain and across domain characterizations. We conclude with a discussion of the challenges that remain in the development of organizational discourse as an area of study and point to some of the opportunities for important and unique contributions to our understanding of organizations and management that this family of methods brings. © 2012 Copyright Academy of Management

Counselling uncertainty:genetics professionals’ accounts of (non)directiveness and trust/distrust

In genetic counselling, uncertainty is central to the client–professional relationship where decisions are made on the basis of risk information/assessment. For various historical reasons, genetic counsellors adopt an ethos of ‘nondirectiveness’ to communicate risk and offer support without advising their clients on what decisions to reach. However, nondirectiveness remains an ambiguous and contested concept that has acquired a negative meaning of ‘not influencing clients’ or ‘adopting an indifferent stance’. We argue that nondirectiveness also implies a positive sense of acknowledging genetic counselling as a process of influence. Drawing on interview data (n = 25) involving professionals from England and South Wales (UK), accounts of genetic testing indicate a dynamic relationship between managing uncertainty on the one hand and negotiating trust and distrust on the other. In the counselling process, trusting and distrusting are coexisting techniques of assessing clients’ motivations, expectations and reasons for genetic testing. Using rhetorical discourse analysis as our analytical approach, we identify a pattern of accounting whereby professionals justify a directive stance when they are not confident whether clients have considered the uncertainty of the situation. More than a veneer of neutrality and indifference, we argue that nondirectiveness is a technique by which genetics professionals explore whether clients can be trusted to make autonomous decisions within a climate of uncertainty. Eliciting confidence and establishing trust within the context of genetic counselling are enabling, pastoral strategies for configuring risk and emotion

Promisory strategies of personalisation in the commercialisation of genomic knowledge

As part of personalised medicine emerging from the human genomics revolution, many websites now offer direct-to-consumer genetic testing. Here, we examine three personal genomics companies – Navigenics, deCODEme and 23andMe – each of which represents contrasting registers of ‘personalisation’. We identify three distinctive registers in these websites: a paternalistic (medical) register; a translational (scientific) register and a democratic (consumerist) register. We explore in detail the rhetorical and discourse devices employed in these websites to assess how personalised healthcare is promised to the public. Promising information that will empower prevention of common complex diseases and ensure better quality of life is conflated with promising greater access to personal information. The presence and absence of scientific legitimacy is related to concerns about accuracy and validity on the one side, and fears of paternalism and elitism on the other. Nevertheless, a common strategy uniting these different styles of personalisation is consumer empowerment. Finally, we consider the tension between the drive of translational medicine to make human genomic research practically relevant, and the intrinsic uncertainties of scientific research and show how, in the commercial domain, future risks are transformed into discourses of promise by concealing these uncertainties