The ‘geneticisation’ of heart disease: a network analysis of the production of new genetic knowledge

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Abstract

Genetic science is making ever-expanding claims about the (mal)functioning of the body. The ‘geneticisation’ of health and medicine is extending from rare single gene conditions to more common multi-factorial disease, such as heart disease. The dominant behavioural and socio-spatial explanations of heart disease are now being challenged by genetic claims of deterministic biological causes. This paper builds an account of the transformation of heart disease in the new genetics era, by applying actor network theory (ANT) to the production of genetic knowledge of one aspect of heart disease—hypertension—within a medical genetics laboratory in Glasgow, Scotland. Using this approach, the paper shows that there is no straightforward geneticisation of heart disease. Instead, there is a contested, complex and uncertain understanding of heart disease as genetic, a product of the many people, technologies, natural elements and spaces involved in the network of genetic science knowledge making. The paper concludes that a ‘critical’ ANT could be developed that acknowledges the inherent unevenness of the network, and connects genetic and socio-spatial explanations of heart disease.

Introduction

The accelerating developments in genetic science are beginning to transform the understanding of disease causation and the practice of medicine (Conrad & Gabe, 1999). The established biomedical understanding of the source of disease—within the organs, tissues and vessels of the body—is being increasingly contested by a conceptualisation of disease that traces its origin to the genetic codes deep inside the cells. This deeply penetrating ‘medical gaze’ is being cast more widely from clearly identified and determining rare ‘single gene’ conditions, such as Cystic Fibrosis and Huntingdon's disease, to common multi-factorial diseases, including cancer, stroke and coronary heart disease (Daily Telegraph, 2001; Observer, 2002). The challenge that this presents to medical clinicians and to those who study health and medicine is profound: dominant models of health, illness and the body are being destabilised, patient health beliefs are being challenged (Parrott, Silk, & Condit, 2003) and science and technology are taking an even greater role in healthcare. Crucially, this is no idle academic debate: the UK government is presently investing £50 million in the ‘mainstreaming’ of genetic testing and screening within NHS clinical practice for a wide range of conditions (Lenaghan, 1998; Department of Health, 2003). The pace of change is dramatic, as genetics and the ‘geneticisation’ of health and disease—‘when genetic explanations gain ascendancy and people are reduced to their DNA codes’ (Hedgecoe, 2003, p. 51)—envelop society and healthcare (Lippman, 1992); this paper offers a reflective pause to consider the process of this transformation, focusing on coronary heart disease (CHD).

CHD is the major cause of morbidity and mortality in the West, with higher levels in the UK than most developed countries (Department of Health, 1998). In the UK, more than 1.4 million people experience angina—the most common form of CHD—and around 300,000 people have a myocardial infarction or heart attack every year. In Scotland, and particularly in Glasgow, the problem is at its worst: an estimated half a million people in Scotland have CHD and 12,500 die each year (Scottish Executive, 2002). The dominant explanation of CHD is of a condition of poor individual lifestyle choices within the context of socio-economic disadvantage. It has taken a steady drip-feed of media announcements of ‘discoveries’ of ‘genes for’ particular aspects of heart disease to provide a dynamic ‘genetic tale’ to challenge this dominant ‘social story’ of heart disease (for example, Guardian 2001; BBC News, 2003). The transfer of genetic knowledge and techniques to medical practice has been rather more rapid, with, for example, a genetic test for Familial Hyperlipidaemia (very high cholesterol) soon to become available in NHS primary care (Department of Health, 2003). The reimagining of heart disease as a genetic condition seems to be well under way. The purpose of this paper is to assess the nature and extent of this ‘geneticisation’.

Social scientists of health and medicine are increasingly engaging with the ‘new’ genetics (see Conrad & Gabe, 1999, for a fuller review), with studies settling around three themes: patient responses to medical genetic testing and counselling (Bosk, 1992; Cox & McKellin, 1999; Taylor, 2004); lay interpretations of genetics, particularly transformed perceptions of risk (Kaufert, 2000); and broader concerns around the social and healthcare implications of genetics (Shakespeare, 1999; Everett, 2003; Robins & Metcalfe, 2004). However, with a few exceptions—Cunningham-Burley and Kerr (1999) and Hedgecoe (2003)—the facts and technologies of genetics have been accepted as ‘true’ and complete. Little attention has been paid to the ongoing production of genetic knowledge, whether in the laboratory, in the broader networks of health policy or in patient–clinician exchanges. This paper hopes to disrupt this sense of genetic knowledge as given, by looking inside the ‘black box’ of one particular aspect of genetic knowledge making: the identification of ‘genes for’ hypertension (high blood pressure, a key risk factor for heart disease).

Within medical and health geographies there has been very limited interest in human genetics (except, Hall, 2003). Much potential for critique is being lost, as geography's disciplinary spanning of the natural and social worlds places it in a unique position to think through the intertwining of biology, individual actions and social understandings and structures that constitute the new genetics (Castree, 1999). For health geographers, there is much to put our minds to: the ‘mapping’ of the interface of the social and the biological, the possible reshaping of health inequalities, and the study of the complex and contested production of genetic knowledge within the spaces of science (and beyond). A small group of geographers have applied ‘actor network theory’ (ANT)—that views the world as being made up of a multiplicity of interconnections between people, objects, nature and spaces—to the twists and turns of science and nature and society, and this paper will follow their lead (Bingham, 1996; Whatmore, 1999).

The paper builds an account of the transformation of heart disease in the new genetics era, by applying ANT to the production of knowledge of the ‘genes for’ hypertension within a laboratory in Glasgow. Using this theoretical approach, the paper shows how there is no straightforward geneticisation of heart disease occurring; instead there is a continually negotiated and contested understanding of hypertension and heart disease as genetic. This complexity is the product of involvement of many people, things and contexts—geneticists, laboratories, experimental rats, genetic matter, computers, and funding bodies—that collectively, though not equally, produce the ‘meaning’ of hypertension and heart disease as genetic. The paper draws upon empirical evidence—observation of and interviews with a geneticist—gathered during 2003. The paper begins by charting the seeming geneticisation of heart disease, from an individual and social condition to a genetic disease. The following section outlines and then applies ANT to the identification of ‘genes for’ hypertension in the stages of a laboratory experiment. The discussion and conclusion reflects on the nature and extent of the geneticisation of hypertension and heart disease.

Section snippets

Contested explanations of heart disease: from social to genetic causation

Heart disease—incorporating the heart ‘events’ myocardial infarction and sudden adult death syndrome, and the heart ‘deterioration’ of angina and heart failure (Gray, Dawkins, Simpson, & Morgan, 2002)—is the major health issue in the UK and Scotland. It is also one of the key drivers of health policy, not only because of the high mortality and morbidity rates, and the severe social and spatial inequalities, but also because heart disease is understood as a largely preventable condition through

Transforming heart disease in the new genetics era

The above suggests an ongoing transformation of heart disease, from a disease of ‘external’ individual risk behaviour, conditioned by social and spatial contexts, to a disease of ‘internal’ genetic codes, in the ‘geneticisation’ of the condition. This paper offers a particular analysis of this transformation, focusing on one particular moment in the production of genetic knowledge: the identification of potential ‘genes for’ hypertension. Through an engagement with ANT, this paper explores the

Discussion and conclusion

The detailed description and analysis of the experiment set out above reveals a cautionary, uncertain and complex notion of the geneticisation of hypertension, and more broadly heart disease, rather than the straightforward transformation of an individual and social to a genetic explanation. The incorporation and interconnection of multiple actors—social, technological and natural—in the network(s), produced knowledge or knowledges of disease that are contested and incomplete. There were many

Acknowledgements

Many thanks to Martin, Anna, Katrina and all at the laboratories for access, co-operation and interest. This paper was first presented at the International Symposium of Medical Geography, in Manchester in July 2003. The paper benefited from two excellent referees reports. The research was funded by an Economic and Social Research Council Research Grant R000223927.

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