Sociology of Health & Illness
© Foundation for the Sociology of Health & Illness
Edited By: Gareth Williams and Ian Rees Jones (Joint Editor-in-Chief), Davina Allen, Eva Elliott, David Hughes, and Joanna Latimer
Impact Factor: 1.665
ISI Journal Citation Reports © Ranking: 2014: 11/39 (Social Sciences Biomedical); 20/142 (Sociology)
Online ISSN: 1467-9566
Virtual Special Issue on Sociological Perspectives on Genetics, Genomics and "Post-Genomics"
Editorial by Richard Tutton and Nina Hallowell
We have become accustomed to sociologists and others speaking about the social significance of research on the human genome. Yet, it is only since the early 1990s that authors writing for Sociology of Health and Illness have addressed what they see as the many questions that arise from advances in genetics for patients, medical professionals, publics and politics. Arguably, sociological interest in genetics coincided with the development of the Human Genome Project, which, it was claimed, would transform our understanding of health and the practice of medicine. In 1999, Peter Conrad and Jonathan Gabe edited a special issue of this journal, Sociological Perspectives on the New Genetics, and began by observing that the ‘sociological study of genetics is still in its infancy’ (Conrad and Gabe 1999: 510). In the ten years since they wrote these words, many sociological studies of the impact of genetics/genomics upon our lives have been undertaken and we thought it was an opportune moment to take stock of what medical sociologists and those with cognate interests have contributed to the social scientific understandings of human genetics research, services and technologies. The virtual special issue format provides us with chance to reflect upon the research that has been published in SHI over the last decade and a half.
We have grouped together the chosen articles under four interrelated themes: experiences of genetic testing/disorders, the social and technical production of medical/scientific knowledge, governing life in the post-genomic era and media representations of genetics. Very broadly, these cover many of the articles that have been published in the journal; we, however, accept responsibility and apologise in advance if we have omitted your favourite article on this topic. We decided not to include all 42 articles on genetics/genomics published in the journal in the period 1992-2008 in this special issue, primarily because we wanted to limit its size so as to render it more usable by colleagues and students alike. We decided instead to highlight articles that had been repeatedly referred to by the academic community (those with >10 citations) and a few others which we personally consider notable or believe will be highly cited in years to come. Undoubtedly, this means we have missed some great articles, but we hope that this selection will give the reader some insight into the types of research that have been published in SHI.
Experiences of genetic testing and living with genetic disorders
When it comes to ‘covering the genetic revolution’ it can be argued that in many ways, medical sociology has played to its strengths – it has focused upon investigating and understanding the experiences of patients (and their relatives) who undergo diagnostic and predictive testing for genetic conditions and/or live with genetic disorders. A good example of such work is Karen Lowton and Jonathan Gabe’s (2003) study of young adults living with cystic fibrosis (CF). With improving life expectations for people with CF, Lowton and Gabe investigate people’s perceptions of health and demonstrate that perceptions of health in the context of genetic illness are not fixed or determined, but dynamic and changing; as related to the physical and experienced effects of CF, forms of treatment and the social context into which these people were placed.
In addition, sociologists have focussed upon the diagnostic or predictive capacities of genetic technologies, particularly looking at pre-natal and adult predictive/diagnostic testing for single gene/chromosomal disorders (Cox and McKellin 1999, Kenen et al. 2003). Much of this research has centred on highlighting and understanding individuals’ (and families’) values and beliefs about inheritance and genetic risk (Parsons and Atkinson 1992, Richards 1993, Cox and McKellin 1999). One of the pioneers of this work was Martin Richards (1993) whose early agenda-setting paper brought several important sociological issues about families, kinship, identity and understandings of science to the forefront of the sociological agenda. Richards’ article was influenced by an ongoing interest in the relationship between scientific understanding and lay constructions of inheritance; an issue which has become a significant focus of study for a number of contributors to the field (Parsons and Atkinson 1992, Pilnick 2002, Cox and McKellin1999, Kenen et al. 2003).
Sociological analyses have also challenged common sense understandings of who should be seen as the recipient of clinical genetics services. Richards (1993) and Kenen et al.(2003) stress that families, as opposed to individuals, have effectively become the target of such services, because the shared, interdependent nature of genetic information (i.e. DNA test results and family histories) has implications for biological relatives as well as the patient in the consulting room. To a certain extent this view of genetic information, as shared or familial property, is at odds with the individualism which characterises the practice of clinical genetics and genetic counselling, and which is often invoked to distinguish the ‘new genetics’ from the ‘old eugenics’. Indeed, a number of papers have gone on to argue that individuals’ experiences of genetic risk management is a key site for interrogating the ideas of choice and responsibility (Hallowell 1999).
However, it would be a mistake to think that those who receive genetic services are solely responsible for (re)defining risk, as research has indicated that professionals who provide genetic services have an active role to play in the mediation and construction of genetic risk (Prior 2001; Lehtinen 2005). In an ethnomethodological study of genetic consultations, Esa Lehtinen (2005) demonstrates how clinicians actively try to secure patients’ understanding of genetic information during conversational turns. Lindsay Prior (2001) in contrast, examines professionals’ role in assembling or constructing risk categories in the context of cancer genetics. Using a range of methodologies: observations, interviews and documentary analyses Prior takes an organisational perspective and discusses the relationship between risk assessment and resource allocation in genetics. He shows that the construction of risk is necessary to ensure that scarce resources are allocated ‘fairly’ and ‘appropriately’, and that risk categories are neither fixed nor immutable.
Social and technical production of genetic knowledge
Other sociologists, many of whom have been working under the influence of science and technology studies (STS), have added to the work that investigates individual experience of genetic services and technologies with an understanding of the social, material and technical dimensions of disease definition, diagnosis and treatment. The case of cystic fibrosis (CF) has been a particular focus in terms of tracking the changing classifications of this disease following the emergence of molecular genetics and the identification of the genetic variants involved in this condition. Adam Hedgecoe (2003) argues that the category of CF has expanded to include related conditions as a result of it being redefined in genetic terms. This expansion, however, has generated uncertainty amongst geneticists researching CF and not delivered greater clarity as many might expect from the introduction of genetic diagnostics for a disease. This latter point is one reinforced by Anne Kerr (2005) who also argues that despite the rhetoric of a ‘genetic revolution’, molecular genetics has not revolutionised the diagnosis of CF, which still involves the use of other clinical tests, and neither has it clarified the nature of the disease which is still understood in a number of ways. For Kerr, the case of CF exemplifies the need for empirical sociological research that goes beyond the discourses of policymakers, scientists or counsellors about the benefits and transformative effects of new genetic technologies.
Similar questions are taken up by Alan Stockdale (1999) when he considers the position of adults diagnosed and living with CF and finds that many feel ambivalence towards the emphasis on searching for a genetic cure (at a time when gene therapy was the focus of great expectations). In particular, he highlights the role of the CF Foundation and its support of a genetic research agenda that has been criticised by those with the condition because this fails to address the lack of support for people living with CF. Instead of waiting for the promised cure, many of the groups that Stockdale interviewed stressed the need to focus upon basic service provisions, such as drug treatment and physiotherapy.
In more recent research, Kate Weiner and Paul Martin (2008) tackle some similar themes by interrogating the concept of geneticisation through an analysis of the construction of a complex disease – coronary heart disease (CHD) – within the scientific literature. They argue that CHD has become, at best, partially geneticised, and that the differential (i.e. genetic versus non-genetic) framing of this disease is used to serve the interests of different groups of scientists. They conclude that ‘geneticisation’, as it is used within the scientific and sociological literature, should be seen as a form of ‘boundary work’ that defends different interests and sets a ‘political’ agenda in some cases. The role of genetic experts and the importance of their discourses to public debates about genetic knowledge more broadly has also been a subject of some study. Elizabeth Ettorre (1999) argues that geneticists are also ‘genetic story tellers’, producers of what she calls ‘genetic ideology’. They play an important role not only in mediating families’ reproductive choices in the clinical setting through their interpretation of genetic information but also in shaping public discourse. In particular, Ettorre pays attention to the ‘normative strategies’ of their storytelling such as the conceptual divisions between science and society. This division is addressed by Sarah Cunningham-Burley and Anne Kerr (1999) in their analysis of genetics professionals’ discourses and how they frame the ‘social’. As they observe, discussion about the ‘social implications’ of genetics tends to acknowledge only a limited number of concerns, and those which can be easily managed such as consent issues, resulting in the more ‘upstream’ questions being neglected. The upshot of this is that the focus on ‘social implications’ reinforces the separation of science from society, thus preserving the value-free, neutral status of scientific knowledge by diverting critical attention from how social values shape that knowledge itself.
Media representations of genetics
In addition to the experiential accounts of patients and the perspectives of scientists and healthcare professionals, there has also been a recurring interest in analysing various media representations of genetics. Peter Conrad (1999) looks at popular representations of genetics and seeks to elucidate the appeal of genetics, while, more recently, Andrew Smart (2003) has analysed the media coverage of the ethical, social and legal implications of research on the Human Genome project. He documents how the coverage veered between optimism that genetic knowledge would transform medicine and more negative concerns about the kind of society that would take shape as a result of this knowledge, for example, one which contained a ‘genetic underclass’. Reinforcing Cunningham-Burley and Kerr’s observation above, he concludes that the coverage of ethical, legal and social implications has been limited and journalists have not tended to consult beyond genetic scientists who support initiatives such as the Human Genome Project.
In contrast to Conrad and Smart, both Lesley Henderson and Jenny Kitzinger(1999) and Phil Brown et al. (2001) use a case study approach and focus upon media coverage of breast cancer. These authors find that much attention (column inches) is given to genetic risk, the dilemmas that this throws up for individuals in terms of how they respond to this information, whereas a number of potential environmental causes of this disease, which have been highlighted by certain activist groups, tend to be ignored or discounted in the press coverage. This trend continues today as evidenced by coverage that was given to the parents who used PGD (pre-implantation diagnosis) to select an embryo without the BRCA 1 and 2 genetic alleles.
Representations of the embryo are a central focus of a study by Clare Williams and colleagues (2003), who analyse the way in which UK media construct the embryo and articulate contrasting moral positions in relation to it. Focusing on the context of stem cell research, they highlight that a key difference to that of the abortion debate is that both sides in the debate utilise certain visual representations of the embryo to define the boundaries of the human. Williams et al. also usefully point us towards seeing the gendered nature of media coverage and how the perspectives of women tend to be left out of the debate.
Governing life in the post-genomic era
With the completion of the Human Genome Project, science funders began to switch their attention towards creating genetic databases for the purposes of research into the aetiology and treatment of common, complex diseases. Over time these became known as biobanks. In a number of countries – first in Europe and then further afield in Africa, Asia and North America – proposals were formed to set up national or regional biobanks, often tied into the economic promise of biotechnological innovation. Sociologists have been interested in various questions do with the governance of biobanks and the way that their organisers have sought to legitimate investment in these projects with appeals to the potential of scientific research to deliver new treatments, notions of ‘gifting’ and altruism, and consultations with the public.
The UK Biobank project has received particular attention from sociologists. For instance, Alan Petersen (2005) analyses the kind of ‘public engagement’ that was carried out by the institutional partners funding UK Biobank – the Wellcome Trust and Medical Research Council. He argues that they used ‘public engagement’ as a means of managing the risks associated with recruiting half a million volunteers to the project. The consultations conducted by market research companies tended to concentrate on the likely motivators for, and barriers to, publics’ willingness to participate in the project as opposed to a genuine attempt to involve members of the public in shaping the aims of UK Biobank. Helen Busby’s (2006) paper addresses the specific way that the UK Biobank sought to utilise social understandings about blood as the platform on which to frame participation in this project. She shows how the invocation of Richard Titmuss’ celebrated notion of the ‘gift relationship’ not only served to frame the act of donating a sample of blood but also associated the aims of UK Biobank with the values of the National Health Service.
Examining the development of a controversial biobank outside the UK, the anthropologist Klaus Hoeyer (2006) centres on how the biobank in question in northern Sweden came to develop and consider an ‘ethics policy’ as an essential component of its commercial success and social legitimacy. Reflecting on how the notion of ‘ethics’ has gained significant traction in relation to medicine and medical research, Hoeyer investigates what the different groups with interests in this biobank – policymakers, health professionals and those who donated their blood – posit as being the ethical issues at stake in the biobank. He finds that these groups have some very different ideas on trust, protection and fairness that impacted on the implementation of the policy.
Although this virtual special issue has only included a selected number of articles from those published since 1992, it underscores how the experiential dimensions of genetic testing and disease, along with the social and technical production of genetic knowledge and disease construction have been two major strands to the work published in SHI. Other interests, such as in media and popular culture as well as questions of governance amongst others, have also emerged as notable but perhaps less significant areas of inquiry.
Back in 1994, Charlie Davison and colleaguesargued that molecular genetic technologies posed a number of challenges for those of us who work in the social sciences. Focusing not on single gene disorders but the future (and they thought imminent) development of susceptibility testing for complex disorders, they suggested that sociologists needed not only to consider patient experiences but to focus on decision-making processes about which types of tests are offered, for which diseases, and to whom they are targeted; implications of genetic testing for employment and insurance, the production of fear and anxiety at a societal level and the impact testing might have on social relations. Despite the urging of Davison et al., it is arguable that social scientists have tended to shy away from the more public or political issues raised by new genetic technologies. However, we have no doubt about the great relevance that research in medical sociology can have for informing policy debate and decision-making in the realm of genetics and genetics services. This is even more so at a time (2009) when the House of Lords Science and Technology Committee is reviewing the potential impact of ‘genomic medicine’ both on professionals’ practice and patients themselves. There is perhaps therefore scope for greater development of the political implications of our findings.