Paula Saukko

Effect of Adding Systematic Family History Enquiry to Cardiovascular Disease Risk Assessment in Primary Care : A Matched-Pair, Cluster Randomized Trial

BACKGROUND Evidence of the value of systematically collecting family history in primary care is limited. OBJECTIVE To evaluate the feasibility of systematically collecting family history of coronary heart disease in primary care and the effect of incorporating these data into cardiovascular risk assessment. DESIGN Pragmatic, matched-pair, cluster randomized, controlled trial. (International Standardized Randomized Controlled Trial Number Register: ISRCTN 17943542). SETTING 24 family practices in the United Kingdom. PARTICIPANTS 748 persons aged 30 to 65 years with no previously diagnosed cardiovascular risk, seen between July 2007 and March 2009. INTERVENTION Participants in control practices had the usual Framingham-based cardiovascular risk assessment with and without use of existing family history information in their medical records. Participants in intervention practices also completed a questionnaire to systematically collect their family history. All participants were informed of their risk status. Participants with high cardiovascular risk were invited for a consultation. MEASUREMENTS The primary outcome was the proportion of participants with high cardiovascular risk (10-year risk ≥ 20%). Other measures included questionnaire completion rate and anxiety score. RESULTS 98% of participants completed the family history questionnaire. The mean increase in proportion of participants classified as having high cardiovascular risk was 4.8 percentage points in the intervention practices, compared with 0.3 percentage point in control practices when family history from patient records was incorporated. The 4.5-percentage point difference between groups (95% CI, 1.7 to 7.2 percentage points) remained significant after adjustment for participant and practice characteristics (P = 0.007). Anxiety scores were similar between groups. LIMITATIONS Relatively few participants were from ethnic minority or less-educated groups. The potential to explore behavioral change and clinical outcomes was limited. Many data were missing for anxiety scores. CONCLUSION Systematically collecting family history increases the proportion of persons identified as having high cardiovascular risk for further targeted prevention and seems to have little or no effect on anxiety. PRIMARY FUNDING SOURCE Genetics Health Services Research program of the United Kingdom Department of Health.

Between Voice and Discourse: Quilting Interviews on Anorexia

This article asks, “How can we be true to and respect the inner experiences of people and at the same time critically assess the cultural discourses that form the very stuff from which our experiences are made?” To answer this question, the article proposes a quilting mode of doing and writing research that aims to be sensitive to the texture and nuance of personal stories or patches and, by stitching them together, points to discursive resonances between them. The quilting approach is used to make sense of interviews conducted with five anorexic women, listening closely to the voices of these women who are often silenced as disordered, and to illustrate how they complicate and are complicated by notions of anorexics as being too dependent and/or too good.

Negotiating the boundary between medicine and consumer culture: online marketing of nutrigenetic tests

Genomics researchers and policy makers have accused nutrigenetic testing companies—which provide DNA-based nutritional advice online—of misleading the public. The UK and USA regulation of the tests has hinged on whether they are classed as “medical” devices, and alternative regulatory categories for “lifestyle” and less-serious genetic tests have been proposed. This article presents the findings of a qualitative thematic analysis of the webpages of nine nutrigenetic testing companies. We argue that the companies, mirroring and negotiating the regulatory debates, were creating a new social space for products between medicine and consumer culture. This space was articulated through three themes: (i) how “genes” and tests were framed, (ii) how the individual was imagined vis a vis health information, and (iii) the advice and treatments offered. The themes mapped onto four frames or models for genetic testing: (i) clinical genetics, (ii) medicine, (iii) intermediate, and (iv) lifestyle. We suggest that the genomics researchers and policy makers appeared to perform what Gieryn (Gieryn, T.F. (1983). Boundary-work and the demarcation of science from non-science: strains and interests in professional ideologies of scientists. American Sociological Review, 48, 781–795.) has termed “boundary work”, i.e., to delegitimize the tests as outside proper medicine and science. Yet, they legitimated them, though in a different way, by defining them as lifestyle, and we contend that the transformation of the boundaries of science into a creation of such hybrid or compromise categories is symptomatic of current historical times. Social scientists studying medicine have referred to the emergence of “lifestyle” products. This article contributes to this literature by examining the historical, regulatory and marketing processes through which certain goods and services become defined this way.

State of play in direct-to-consumer genetic testing for lifestyle-related diseases: market, marketing content, user experiences and regulation

Direct-to-consumer (DTC) genetic tests have aroused controversy. Critics have argued many of the tests are not backed by scientific evidence, misguide their customers and should be regulated more stringently. Proponents suggest that finding out genetic susceptibilities for diseases could encourage healthier behaviours and makes the results of genetics research available to the public. This paper reviews the state of play in DTC genetic testing, focusing on tests identifying susceptibilities for lifestyle-related diseases. It will start with mapping the market for the tests. The paper will review (1) research on the content of the online marketing of DTC tests, (2) studies on the effects of DTC genetic tests on customers and (3) academic and policy proposals on how to regulate the tests. Current studies suggest that the marketing of DTC genetic tests often exaggerates their predictive powers, which could misguide consumers. However, research indicates that the tests do not seem to have major negative effects (worry and confusion) but neither do they engender positive effects (lifestyle change) on current users. Research on regulation of the tests has most commonly suggested regulating the marketing claims of the companies. In conclusion, the risks and benefits of DTC genetic tests are less significant than what has been predicted by critics and proponents, which will be argued reflects broader historical trends transforming health and medicine.

Making sense of being at ‘high risk’ of coronary heart disease within primary prevention

Current National Health Service policy advocates screening to identify individuals at ‘high risk’ of cardio-vascular disease (CHD) in primary care. This article utilizes the work of Radley to explore how ‘high risk’ of CHD patients make sense of their new risk status. Results are presented here from a nested qualitative study within a quantitative randomized trial of a CHD risk intervention in primary care. ‘Discovery’ interviews were conducted with ‘high risk’ participants (n = 38, mean age = 55) two weeks after intervention and thematically analysed. In response to perceived threat, many participants sought to both ‘minimize’ and ‘normalize’ their risk status. They also reported intentions to act, particularly concerning dietary change and exercise, although less so for smoking amongst the lower socio-economic status participants. Such perceptions and intentions were contextualized within the life-course of later middle-age, so that both being at risk, and being treated for risk, were normalized as part of growing older. Social position, such as gender and SES, was also implicated. CHD risk interventions should be context-sensitive to the life-course and social position of those who find themselves at ‘high risk’ of CHD in later middle-age.

Studying the self: from the subjective and the social to personal and political dialogues

This article analyses and discusses the emotivist goal of capturing the subjective self as well as the poststructuralist quest to grasp the social self produced by discourses. It argues that both of these positions are predicated on the classical notion of a ‘subject’ that ‘knows’ the subjective self and its desires and/or its social ramifications. The downside of this understanding of the self is illustrated by the way in which the experience, research and treatment of eating disorders are all driven by a similar elusive, gendered ideal of a subject who knows itself and the world and how they both work. This article argues for a more ambivalent or ‘agonistically dialogic’ way of approaching the self that acknowledges that the subjective is always confounded by the social, and that the social can only be grasped from a subjective point of view. This mode of studying the self paves the way for a less judgemental and more conversational way of relating to our selves, others and the social world, leading to a more dialogic (inter)personal and political life.

The mundane experience of everyday calorie trackers: Beyond the metaphor of Quantified Self

In this article, we build on the work of Ruckenstein and Pantzar, who have demonstrated how our understanding of self-tracking has been influenced by the metaphor of the Quantified Self (QS). To complicate this very selective picture of self-tracking, we shift the focus in understanding self-tracking from members of the QS community to the experiences of ‘ordinary man and woman’. Therefore, we interviewed ‘everyday calorie trackers’, people who had themselves started using MyFitnessPal calorie counting app but were not part of any tracking community. Our analysis identifies three main themes – goals, use and effect – which highlight the mundane side of self-tracking, where people pursuing everyday, limited goals engage in basic self-tracking and achieve temporary changes. These experiences contrast with the account of self-tracking in terms of long-term, experimental analysis of data on the self or ‘biohacking’, which dominates the QS metaphor in the academic literature.

Genomic susceptibility testing and pregnancy: something old, something new

This essay explores how testing for common and complex or genomic, as opposed to genetic, susceptibility to deep vein thrombosis both challenges and consolidates old social discourses on genes, gender and pregnancy. The nexus between genetics and reproduction usually crystallizes in the moral dilemma of selective termination. This essay examines online discussion among women with a genomic predisposition to deep vein thrombosis, which is associated with miscarriage and stillbirth. It explores the womens exchanges on what to ‘do’ in order to safely carry to term a foetus, which may always also have the genomic susceptibility. Interpreting DNA not in terms of predicting fate but of suggesting how to modify ones behaviour in order to give and care for life blunts its eugenistic edge. However, this interpretation also shoulders discussants with the complicated and laborious responsibility of modifying themselves, their life styles and the life styles of their families—all of which falls within womens traditional labour of love in the privatized age of bioindividuality.

‘I Feel Ridiculous about Having Had It’ — Critical Readings of Lived and Mediated Stories on Eating Disorders

Eating disorders are commonly perceived to be informed by media images idealising thinness. Research in this area has encompassed both experimental studies on whether exposure to ‘thinness-depicting-and-promoting’ images predicts anorexia and bulimia (Harrison, 2000), and critical feminist studies on the multifarious meanings associated with the slender body (Bordo, 1993). These studies are often predicated on the assumption that while images of thinness have deleterious effects on individual women’s psyche, discussion on eating disorders is emancipatory, pointing towards healthier ways of being a woman.

Shifting metaphors in direct-to-consumer genetic testing: from genes as information to genes as big data

This article analyses shifts in metaphors in direct-to-consumer genetic testing, analyzing the websites and select media coverage of the nutrigenetic testing company Sciona (2000–2009) and the personal genome service 23andMe (2006–). Sciona represented genes and communication through the classical metaphor of information; genes coded for disease, and this information was transmitted from the expert company to the consumers. 23andMe represented genes and communication through a new metaphor of big data; genes were digital data or a resource that was browsed, correlated with other data, uploaded and retrieved across lay customers, websites and companies. In terms of understanding health 23andMe tests and research still cast genes as coding for disease to be mitigated by lifestyle change and targeted drugs. However, rendering genes digital data or resources changed their social and economic meaning; genes could be circulated, shared and traded, which legitimized 23andMe’s business model of consumer genetics and private biobanking.