Sarah Cunningham-Burley & Mary Boulton. Handbook of Social Studies in Health and Medicine. Editor: Gary L Albrecht, Ray Fitzpatrick, Susan C Scrimshaw. Sage Publications, 2000.
Developments in human genetics, especially when related to health and disease, are discussed and debated in a range of contexts—in the media, in policy arenas, and through various forms of public debate. A range of professional and lay groups are involved in such discussions, including scientists, clinicians, bio-ethicists, social scientists, patient and interest groups, and industry. This suggests that the knowledge and applications arising from genetic research are expected to have considerable impact on our social institutions as well as on individuals themselves, and thus should be openly debated. Concerns are profound, for genetic research will influence the way in which we define, prevent, and treat disease, organize health and social care, and manage insurance and employment. Issues around discrimination, stigma, and eugenics all evoke anxiety and raise questions about how we regulate science and clinical practice. The presence of such far-reaching concerns, operating at every level in society, demand that the social context of the ‘new genetics’ is thoroughly understood. Such an analysis needs to consider both the social shaping of genetic science, that is, how and why it develops in the way it does, as well its social consequences and impact, which themselves may influence future developments. This chapter offers an overview of some of the key areas that describe this context.
A consideration of the social context of the new genetics must start from a position that characterizes science as a social activity. This effectively challenges the view that science is the objective accumulation of value-free knowledge, suggesting instead that science should be understood as reflexively related to society and culture. Science is conducted with reference to interests and goals (Barnes et al, 1996), and scientists will seek to protect their interests, often by demarcating science from non-science, and their expertise from that of the non-specialist (Barnes et al. 1996; Gieryn 1983, 1995; Kerr et al. 1997). Lay people, on the other hand, are in much less powerful positions, and their interests may be determined rather than protected by science. However, a sociological understanding of lay experience must not start from a position of privileging scientific knowledge. Rather, it should treat lay people as knowledgeable, and able to engage with science in a range of ways, in order to make sense of its relevance to their daily lives and decision making. These two elements to understanding the social context of the new genetics, essential to informed sociological inquiry, underlie the contribution of this chapter.
The first part of the chapter considers the development of genetic science by providing a sociohistorical overview of the growth of genetics over the twentieth century. This embraces a consideration of genetics’ early link with the eugenics movement, and how genetics came to be reinstated as a viable science with something to offer in terms of understanding and ameliorating human disease. The Human Genome Project is a high-profile manifestation of the central place accorded to genetics in the life sciences and medicine. (The term ‘genome’ refers to all the genetic material in the chromosomes of an organism; the human genome is contained in 23 pairs of chromosomes.) In describing genetic science, the chapter then focuses on current significant clinical applications, namely genetic testing and screening, and considers the potential and problems associated with these. The second part of the chapter broadens the discussion to include lay responses to these clinical developments, and then moves on to consider the wider social issues and concerns raised by current and future research. Finally, the chapter examines the role of public involvement in debates about genetics, and considers the range of expertise that needs to be harnessed to ensure democratic and inclusive science and health care. In conclusion, suggestions are made for areas of future development and the role that social scientists have in continuing active and meaningful debate in this important area of scientific, medical, and social concern.
The term the ‘new genetics’ refers specifically to the body of knowledge and techniques arising since the invention of recombinant DNA technology in 1973. It involves research into the genetic components of human disease and behaviour, which may have clinical applications through the provision of genetic testing or screening for disease or risk factors for disease, and through treatments such as gene therapy or new pharmaceuticals. Although the chemical structure of DNA was discovered in 1953, it was not until the development of polymerase chain reaction (PCR) techniques, which made possible the rapid production of many copies of a particular DNA sequence, that it became possible to isolate single human genes and to identify their function. The ability to produce and manipulate DNA in the laboratory hastened developments in the field and led to the identification of genes, and markers for genes, for a range of diseases (such as cystic fibrosis in 1989). Indeed, in 1995 alone, some 60 disease genes were isolated (Yates 1996). These discoveries are often portrayed as breakthroughs by scientists and the media alike, but the associated promise of cures for disease deriving from such research has been matched by concerns about emergent risks to current and future generations and a slippery slope to eugenic practice. Clinical applications currently include genetic testing and screening; gene therapy is developing more slowly than first anticipated, although the development of new pharmaceuticals is proceeding rapidly. While some diseases are caused by a single gene, most disease is likely to be polygenic (caused by a number of genes), or multifactorial (the product of the interaction between genes and environmental factors, both during foetal development and onwards throughout the life course). Despite uncertainty and caution, developments in genetics are clearly having, and will continue to have, considerable impact on individuals seeking health-related advice and treatment, the institutions within which such activities are embedded, and the wider social and cultural processes that influence them.
Genetic Science and Its Clinical Applications
The Rise of Genetic Science
Genetics has now moved to centre stage in the life sciences and into the arena of ‘big science,’ with its new alliances between venture capital and academia (Rose 1994). However, throughout the first half of this century, it was very much a marginal science, making few significant inroads into either biology or medicine. Its varied and mixed relationship to eugenics throughout the early part of this century has meant that its marginality as a science has become somewhat overshadowed by its prominence as the scientific backdrop to the eugenics movement. This legacy has important implications for current genetics, which has to seek a new public support and scientific authority after the atrocities of Nazi Germany during World War II. However, at the start of the century, an alliance with eugenics was a way of ensuring public support for genetics, by linking it with significant social interventions. Concern persists today about the eugenic potential of genetic interventions, although cast in different contexts.
Although Mendel’s work on pea plants in the nineteenth century led to the identification of dominant and recessive factors in heredity, it was not until the start of the twentieth century that these rules were rediscovered (Judson 1992). The developing fields of cell biology and statistics led to further work on heredity, much focusing on the fast-breeding fruit fly, but also including the transmission of diseases in humans. Although Kevles (1992) suggests that some of these scientists were motivated by the potential relationship with medicine, and by the quest for knowledge for its own sake, he identifies eugenics as the driving force in these early scientific endeavours in relation to understanding human inheritance. Eugenics, he states, was ‘the cluster of ideas and activities that aimed at improving the quality of the human race through the manipulation of its biological heredity’ (Kevles 1992: 4). This ‘modern eugenics’ originated with Galton, who pursued the idea that improvement of the human race might be attained through selective breeding, whereby the ‘undesirable’ could be eliminated (negative eugenics) and the ‘desirable’ multiplied (positive eugenics). This became a popular movement across the United States and Europe, embracing many professional groups, although most policies were aimed at negative, not positive, eugenics-for example, through sterilization laws, some of which were only repealed as recently as the 1970s. Crucially, the eugenics movement included geneticists ‘for whom the science of human biological improvement offered an avenue to public standing and usefulness’ (Kevles 1992: 5). In pursuit of this science, and motivated by eugenic applications, an emphasis was placed on studying medical and social disorders—the latter including the public concerns of the day such as criminality, prostitution, and alcoholism. The study of ‘feeblemindedness’ was of particular concern. Although the nature of the eugenics movement, and the relationship of genetics to it, changed and reconfigured across the century (Paul 1992), the emphasis of these early investigations, reflecting the wider popular movement with which genetics was associated, resonates in more recent claims. The genetic basis of mental illness, intelligence, and a range of behavioural traits considered socially undesirable, re-emerged as topics for investigation throughout the 1970s, and research continues today. Similarly, a concern for disease, although much more prominent today in the new genetics, finds some continuity with the past (Kerr et al. 1998b). Science clearly cannot be set apart from the social values with which it is infused.
The commonplace assumption that all eugenics was based on bad science, often promoted by geneticists today (Kerr et al. 1998b), has been challenged. For example, there has been a lasting impact in terms of statistical techniques still used today (MacKenzie 1978). However, from the 1930s onward, many scientists disassociated themselves and their scientific work away from mainline eugenics (Kevles 1995). Weaknesses in the science became obvious: it neglected the role of the environment, did not eliminate bias from studies, and focused on traits that could not easily be measured. These concerns, along with the blatant class and race biases of the early eugenics movement and its increasing association with Nazism, discredited genetics. By the mid-twentieth century, human genetics was not an attractive discipline, nor one that seemed particularly useful in social or medical arenas. However, over the next few decades, it was to develop and become the strong force in biological and medical science that it is today. Increasingly, it came to align itself with clinical medicine and to study welldefined traits that could be measured accurately. Its eugenic links were at once severed yet subtly reconfigured as a ‘reform eugenics,’ that focused on preventive and therapeutic medicine (Kevles 1995). Here, biology or nature was considered important in explaining human difference, but the environment or nurture was also accorded some significance.
Although the eugenic potential of genetics and the power attributed to genes declined in acceptability from the 1930s, Keller (1992) argues that geneticists then set about separating their science and its knowledge from its use or abuse, and distinguished human from nonhuman genetics and physiology from behaviour. This helped to preserve the integrity of the developing science and to firmly entrench it as valuable to medicine. The biochemical and molecular biological advances since the discovery of the structure of DNA created a body of knowledge and techniques that had some useful application in clinical genetics and avoided association with any overt eugenicist goals. Yoxen (1982a) argues that clinical geneticists were a new professional group and had to negotiate a position within the profession of medicine as a whole. Their expertise derived from knowledge of many rare disorders that came to be defined as genetic diseases. As Kevles notes, the emphasis became the family not the whole population, and the science became seen as valuable in its own right as well as for its contribution to understanding genetic disease (1992: 16).
As this brief overview shows, the development of genetics is not simply a story of scientific progress, but is also linked to particular actions and activities of scientists as they seek to promote approval and funding for their work. New boundaries and alliances are created: recent research in the United Kingdom demonstrates the persistence and power of this boundary work, where the new genetics is effectively separated from old eugenics through a range of rhetorical strategies. The new genetics is portrayed as based on good science, as opposed to the bad science of eugenics. It is said to produce neutral knowledge that may be used or abused by society; eugenics is described as being to do with totalitarian regimes, not liberal democracies. The new genetics emphasizes disease not behaviour, and individual choice rather than coercion (Kerr et al. 1998b). This serves to make legitimate the knowledge gained through genetic research and the authority of both scientists and clinicians (Kerr et al. 1997). This can deflect criticism of both science and scientists and encourage a conceptual separation of science from its applications. However, the aim of providing new understandings of the complex role of heredity in the aetiology of disease in order to improve diagnosis and treatment, which may be beneficial, has only the appearance of being value free. Definitions of disease are socially shaped and historically contingent. The interweaving of scientific and medical concerns cannot displace these processes. Genetic counseling may involve implicit or explicit values favouring particular actions and decisions that conform to dominant cultural values. Medicine itself is in a powerful position to, at least partly, determine the nature of clinical practice and what are deemed appropriate choices and interventions. This all suggests that any understanding of the new genetics must embrace this broader context. As Duster (1990) argues, although the ‘front door’ to eugenics is closed, the ‘back door’ of disease prevention remains powerfully present, all the more so for being taken for granted by those with the power to decide (scientists, clinicians, and biotechnology and pharmaceutical industries). Relatedly, the potential expansion of genetics from families at risk of rare disorders to larger populations at risk of common, multifactorial conditions, increases its ‘clinical gaze’ (Foucault 1989). Similarly, the influence of molecular genetics now extends into many areas of medical research and practice, from genetic testing and screening, to the development of new pharmaceuticals, such as those relating to the treatment of HIV and AIDS (Bell 1998).
The reconfiguration of human genetics, primarily as a medical concern from the 1950s onwards, provides the context upon which subsequent technological and scientific innovations developed. This alignment, although preceding any substantial advances in genetic technology, contributed to a powerful and winning discourse—that genetics, through medicine, can alleviate suffering and eliminate disease (Rose 1994). The medical receptivity to genetic explanations, and the utility of testing in clinical contexts, heralded the slower reinstatement of genetic explanations for a range of other behaviours and traits after their dismissal (post-World War II) in favour of a far greater emphasis on psychological and social explanations (Keller 1992; Nelkin 1992). Keller (1992) argues that this involved both a resurgence and transformation of genetic determinism: biology, by being more thoroughly understood, could be controlled. The promotional strategies of scientists offered the promise of genetic interventions aimed at improving the lives of individuals long before this became technologically feasible (Nelkin 1994). Support for genetic research could be assured, and the anticipation that genetics would significantly influence the experience of disease itself helped shape both research and rhetoric. The Human Genome Project embodies these developments, placing genetic research firmly in the centre of cultural, economic, and health-related arenas.
The Human Genome Project: Mapping and Sequencing the Human Genome
The idea of a human genetic map was raised as early as the 1930s, with considerable prescience given the status of genetics and technology at that time. By the 1980s, the methods and technology were advancing so that such a venture could become a reality. The Human Genome Project, initiated in the late 1980s in the United States, is now an international, multimillion-dollar endeavour. It will result in the mapping of the 100000 genes and the sequencing of the 3500 million base pairs that make up the whole human genome (although representing no one human being). It involves the hitherto unlikely alliance of the US Department of Energy (interested initially in genetic mutations caused by radiation) and the National Institutes of Health, traditional federal funders of the life sciences. However, the formation of the project, although reaching some scientific consensus, was neither uncontested nor uncontroversial. Some prominent molecular biologists were critical of blind sequencing, of the possibility of funds being diverted from other important projects, and for the centralizing of science into a few large centres because this might stifle creativity (Kevles 1992; Tauber and Sarkar 1992). However, the momentum for the project meant that it was unlikely to be abandoned. Eventually it involved new money and an agreed division of labour between the DOE and the NIH. The former would do the sequencing and develop associated technology, and the latter would concentrate on the mapping, which was to have initial priority, with a particular focus on disease. Cultural, economic, political, and technological processes shape the context of knowledge production, and the development of the human genome project, with its links to capital and the state, was both contingent and contested. However, in the end, as Kevles pointed out, ‘The most compelling reality was the consequences of remaining out of the human genome sweepstakes’ (1992: 29). Scientists, despite reservations, would have to become involved in order to get their work funded, and the nature of future research became at least partially determined.
The Human Genome Project became possible because of the association of genetics with understanding disease (Keller 1992). This made it an acceptable venture, or indeed an imperative, as health and the prevention of disease are taken-for-granted values. Protagonists actively promoted the project by stressing its usefulness in the area of health care, disease prevention, diagnosis, and treatment. However, the hyperbole of the rhetoric extended beyond this to include metaphors likening the project to the Holy Grail: it promised ‘to teach us what it is to be human.’ As discussed, scientists need to ensure public support for their work, and Yoxen (1982b) has noted how the development of molecular biology was a public process, involving scientists using the media to disseminate their message. The promises pronounced to justify the mapping and sequencing of the human genome operate as hopeful predictions of future scientific successes, yet can powerfully shape the direction of research (Keller 1992). They can also raise hopes and expectations within the public and influence a range of policy arenas. This is evident, most immediately and directly, in the provision of genetic testing and screening for disease.
Clinical Applications of the New Genetics: Genetic Tests and Screening
The identification of genes associated with both rare and common disorders has very rapidly led to the development of clinical tests for these genes in individuals. A gene is simply a ‘string’ of nucleotides at a defined location on a chromosome that has been associated with a specific trait and its variants. Each gene encodes a specific functional product (usually a protein). The sequence of nucleotides in the gene, that is, the order in which the nucleotides appear in the ‘string,’ may vary slightly between individuals, and consequently the protein products encoded by the genes may also vary, contributing to the variations in the trait that can be observed in the population. The different variants of genes are known as alíeles and are the variants that produce disease as disease mutations. Genetic tests involve the examination of the sequence of nucleotides in a gene, either by direct methods to detect the sequence or indirectly through the use of gene probes or through the analysis of their protein products. By establishing whether one or both copies of an individual’s particular gene harbour a known disease mutation, genetic tests potentially offer the ability to explain or predict the development of clinical disorders.
In practice, however, the predictive value of genetic tests is more uncertain. Knowing the alíele of a gene may provide some prognostic information. For example, an individual identified as having the gene mutation associated with Huntington’s Disease (HD) will almost certainly develop the slowly progressive dementia and uncontrollable body movements characteristic of the disorder. However, considerable uncertainty remains about the manner in which the disease will develop, for example, when symptoms will begin, the form they will take, and their severity and progression. For some conditions, this uncertainty may be so great that the information gained from identifying the gene variant is of little practical value.
Uncertainty arises primarily because there is no simple or straightforward relationship between the sequence of nucleotides identified by a genetic test and the manifestation of disease in an individual. For example, individuals with the same disease mutation may experience different clinical symptoms and show different pathological processes. Hubbard and Lewontin (1996) cite the example of autosomal dominant retinitis pigmentosa, a condition in which cells in the eye degenerate over time: ‘In one family containing two sisters with the same mutation, however, one is blind whereas the other (the older one) drives a truck even at night’ (Hubbard and Lewontin 1996: 1192). Conversely, individuals with different gene mutations may experience the same clinical symptoms. For example, it is estimated that there may be as many as 500 disease-producing variants of the gene associated with cystic fibrosis (CF), a disorder that involves severe digestive and lung problems and substantially reduces life expectancy. Some variants are associated with specific symptoms, but most are associated with symptoms that are indistinguishable from one another. This complex and highly variable relationship between the variants of genes identified by genetic tests and the development of clinical symptoms and disease in the individual makes it very difficult to interpret the significance or precise predictive meaning of a genetic test.
This difficulty is further complicated by the limitations imposed by cost and other practical considerations in genetic screening. Given the vast number of individual variants of genes, genetic screening may not seek to identify which particular alíeles an individual carries, but look only for the presence of specific disease mutations that are known to be common in a given population. This inevitably means that a percentage of those who receive a negative test result do in fact carry a disease mutation. In Britain, for example, past CF carrier screening programmes have looked for only four to seven of the common mutations, with the result that about 15 per cent of those who carried a disease mutation might have been given a negative test result. Thus, while a positive test result may have some predictive value, the meaning for an individual of a negative test result is more difficult to interpret.
The value of programmes that offer genetic testing to populations or defined groups within populations is also unclear. Benefits are more likely to be derived from programmes for single-gene disorders. CF, for example, is a single-gene, autosomal recessive disorder, which means that those who carry one ‘normal’ alíele and one disease mutation—that is, heterozygous carriers-are themselves healthy. However, if their partner is also a carrier, they have a one in four chance of having a child who inherits a mutation from each parent—that is, a child who is homozygous for the mutation and experiences the disease. Population screening makes it possible to identify heterozygous carriers who are not generally aware of their risk of having an affected child. Through counseling to explain their reproductive options, including prenatal diagnosis, such carriers may be offered the possibility of avoiding the birth of a baby with a severe chronic disease. Huntington’s Disease, described above, provides another example. HD is a single-gene autosomal dominant disorder that means those who inherit the mutation from just one parent are likely eventually to develop the disease. It does not develop until later in life, however, so individuals with a family history of the disease live for a considerable time with uncertainty about whether they will eventually develop the condition. By identifying at an earlier age those who do and those who do not carry the disease mutation, genetic testing can reduce this uncertainty and provide individuals with information they need to plan their lives.
What is less convincing, however, is the value of screening programmes for genes that ‘predispose’ individuals to disease. In contrast to single-gene disorders, most common chronic diseases with a genetic component, such as diabetes, heart disease, and various forms of cancer, have a complex aetiology, involving interactions amongst many genes and between genes and the environment (social, psychological, biological, infectious, and physical). Genetic epidemiology has developed as a discipline to explore the contribution of genes and gene/environment interactions to the occurrence of disease in a population (Khoury et al. 1993). However, only a start has been made on the vast amount of research that will be required to identify significant polymorphisms (variants of genes found in more than 1 per cent of the population that are passed on to the next generation) and to establish the extent of their contribution, on their own and in interaction with environmental factors, to the production of disease. In the meantime, there is limited value in screening to identify mutations of only one or two genes that may ‘predispose’ an individual to a disease with a complex aetiology.
This is well illustrated in relation to breast cancer, in which the identification of two genes, BRCA1 and BRCA2, has created the possibility of genetic testing programmes for those with a strong family history of the disorder. The disease mutations for these genes confer on a woman a lifetime risk of developing breast cancer of up to 85 per cent, and a lifetime risk of developing ovarian cancer of 45 per cent. However, over a hundred variants of the BRCA1 gene have already been identified, and only a few are associated with cancer tumours. Moreover, only a small proportion of breast cancers (about 5 per cent) is associated with the identified mutations: the vast majority of breast cancers arise from more complex interactions of genetic and environmental factors. It is therefore very doubtful whether women will gain much benefit from tests for these two predisposing genes. Only a few women would be regarded by clinical geneticists as having an inherited risk, but even for these women, given the high prevalence of breast cancer in the general population of women, a negative test result (showing she does not carry a mutation associated with tumour growth) would offer little reassurance of avoiding breast cancer. For those who receive a positive test result, the benefits are again of limited value. Learning that she carries a gene predisposing for breast cancer reduces only one form of uncertainty; it does not predict exactly which tumour she may develop or when, or even whether a cancer might occur at all. Moreover, as Collins (the director of the Human Genome Project) warns, ‘We are still profoundly uncertain about the appropriate medical care of women with these mutations’ (Collins 1996: 187). This means that a positive test result may simply increase a woman’s anxiety and condemn her to years of surveillance, or drastic prophylactic measures such as bilateral mastectomy and oophorectomy. With so little to be gained from testing, it is not surprising that many doctors have reservations about offering or recommending it (Hubbard and Lewontin 1996).
Despite the rhetoric of promise in relation to preventing and treating disease, clinical applications derived from the new genetics are limited. However, the rapid pace of research suggests that the potential of new pharmaceuticals and gene therapy will continue to offer the promise of future clinical interventions. Doctors, scientists, and lay people express ambivalence and concerns about current and future developments. The experience of the latter in relation to testing and screening will now be examined.
Patients, Publics, and Social Issues
Lay Responses to Genetic Testing and Screening
Uncertainties relating to the predictive ability of genetic tests and their benefits are mirrored in the ambivalence of lay responses. People may take information on genetic risk into account, but it is interpreted and evaluated in the context of their individual values and concerns. These may differ considerably from the essentially utilitarian values that underpin screening and testing programmes. Although surveys conducted in a number of countries have reported that most people regard developments in medical genetics in positive terms and have an essentially optimistic view of the benefits that genetic testing can bring (Green 1992; Hietala et al. 1995), such acceptance has not been reflected in decision making in practice. Where screening and testing programmes have actually been offered, lay responses have been considerably more sceptical than these attitudes would suggest, and rates of acceptance of tests are considerably less than proponents had expected. This has been the case across a wide range of conditions. Early surveys conducted amongst individuals with a family history of HD, for example, indicated that two-thirds wanted to have a genetic test for the condition (Kessler et al. 1987). When testing became available, however, less than 15 per cent of those who initially expressed interest came forward for testing (Craufurd et al. 1989). Similarly, community surveys suggested that between two-thirds and three-quarters of individuals would want to be tested for CF carrier status (Williamson et al. 1989). When screening programmes were introduced, however, interest in them outside the context of pregnancy and antenatal care was almost negligible (Bekker et al. 1993; Tambor et al. 1994). Responses to breast cancer screening appear to be developing in a similar direction. Interest in genetic screening amongst women with a family history of breast cancer has been widespread (Julian-Reynier et al. 1996; Lerman et al. 1995). However, where women who belong to known high-risk families have been offered testing through research programmes, only a minority have ultimately accepted it (Lerman et al. 1996). It appears that, while the lay public may acknowledge the benefits of advances in genetics in principle, in practice they are less convinced of their value.
Why has screening been rejected on such a large scale? One factor is the influence of lay understandings of heredity and inherited disease. Heredity plays an important role in lay explanations of illness, and research is beginning to tease out the complex sets of rules and conditions that shape perceptions of risk and vulnerability (Richards 1996). Central to these is the commonsense assumption that you can pass on to future generations only those conditions that have been present in past generations. For recessive conditions such as CF, the great majority of carriers (for whom community carrier screening is specifically intended) have no family history of the condition and generally feel at little risk of having an affected child (Loader et al. 1996; Watson et al. 1991). The pre-test information on population risk provided in screening programmes may make little sense to individuals in the context of their existing beliefs and assumptions and, despite educational materials, many continue to feel that screening is of little relevance to them.
A second and perhaps more significant factor, however, is the recognition that the ‘costs’ of testing may outweigh its ‘benefits.’ Where effective treatments are available for genetic disorders, the benefits of testing are clear and include release from surveillance programmes (often involving invasive procedures) for those identified as not having the relevant gene mutation. For example, the identification of the gene associated with polyposis colii, a form of inherited colon cancer, means that children of known suffers can be tested to establish whether they have inherited the disease mutation. Those who have may then be offered regular colonoscopy to identify early symptoms and surgical treatment when they appear, while those who are identified as not having inherited the disease mutation can be free of further screening. In circumstances such as these, it is more common for individuals identified as ‘at risk’ by their family history to accept genetic testing (Evans et al. 1997).
However, it is a feature of genetic disorders that the increasing ability to identify them accurately is not matched by the ability to treat them effectively. Where effective treatment does not follow, individuals may perceive no obvious benefit from testing. Women with a family history of breast cancer who declined genetic testing, for example, indicated that whatever their test result, they would continue to see themselves as at risk and to have regular breast screening (Julian-Renier et al. 1996; Lerman et al. 1995). Where the result has no practical implications, there may seem little point in having the test. Conversely, where the potential costs of receiving a positive result are perceived to be very high, costs may become an insurmountable barrier to testing. For example, amongst individuals with a family history of HD who were offered presymptomatic testing, many were concerned about the psychological difficulties of living with the knowledge that they would develop HD if they tested positive, and with the guilt they would feel if they found they had passed on the disease mutation to their children (Quaid and Morris 1993). For these individuals, ambiguity and uncertainty were welcomed for the broader possibilities they embraced, and resisting a definitive genetic label became important in its own right.
Other costs of a positive test result have been described by those who are not themselves ill but who are identified as carriers of a recessive disorder. These include feelings of stigma and anxieties about discrimination in relation to employment and insurance, as well as concern about the implications of being ‘at risk’ of having an affected child. These costs may be brought into greater focus simply by the offer of genetic testing. For example, for those who are not currently pregnant, the potential costs of being identified as a CF carrier have been found to loom much larger in their assessment of screening than any potential benefits that it might bring (Clayton et al. 1996). For those who are pregnant, even the ‘benefits’ of screening often appear of limited value. While in theory the reproductive choices available to carriers include adoption and various forms of assisted reproduction, those who are already pregnant are limited to prenatal diagnosis and the option to terminate an affected pregnancy. Where abortion is unacceptable, or the individuals do not want to be put in a position where they would have to make such a decision, the ‘benefits’ of screening could be perceived as another form of ‘costs.’ In these circumstances, individuals may feel it is better to remain ignorant of their genetic status, particularly when the momentum of the medical process may be difficult to resist once screening has been accepted. It is this crescendo of intervention and surveillance that gives force to wider concerns about the social aspects of the new genetics.
Broader Social Concerns
While genetic testing raises very specific issues at the level of the individual, his family, and social institutions such as health-care organizations and welfare services, there are broader concerns raised about genetic research. Three main areas of critique relate to genetic determinism, including where genetic explanations are accorded too great an emphasis, the associated process of geneticization where disease is increasingly seen in genetic terms (Lippman 1992a,b), and the limitations of a reductionist approach. Duster (1990) has argued that there is increasing appropriation of genetic explanations, whereby a causal role is given to genetics for a range of socially derived categories (for example, criminality and intelligence). The 1970s witnessed a move away from sociological and psychological explanations towards biological ones. Although this did not come from molecular biology itself, but from psychology, psychiatry, and physical anthropology, this shift paved the way for a prioritizing of genetic explanations in medicine (Keller 1992). However, interest is now resur-ging into the genetic basis of a range of behavioural traits and disorders, including mental illness. Several commentators, from within genetics and elsewhere, have raised concerns that genetic determinism may result in a neglect of environmental factors, also important in disease aetiology (Clarke 1995; Duster 1990; Muller-Hill 1993; Willis 1998). The narrowing definitions of disease resulting from genetic research also results in the narrowing of interventions, causing an expansion of services such as testing and treatments, ever more tailored to specific genotypes.
Geneticization, where more traits and diseases are identified as having a genetic component, is particularly evident in the clinical setting through the expansion of prenatal testing (Lippman 1992a,b). In the United States this is coupled by a strong legal imperative, where doctors may be sued for wrongful birth. Through prenatal testing, a parent may be identified as a carrier of a recessive or dominant condition, and the foetus may be tested if necessary. Although more and more people and their unborn children can be identified as potentially diseased, there remains little prospect of intervention other than via selective abortion. The powerful rhetorics associated with preventive medicine take an especially potent form in genetics, particularly because they maintain an emphasis on individual choice. Of course, the choices available to someone are always limited, and the range of appropriate actions is similarly constrained.
Most obviously, the rhetoric of disease prevention and cure directly affects the lives of disabled people. Shakespeare (1995) has stressed that the taken-for-granted assumptions about impairment and quality of life should be more openly contested. The new genetics, he argues, affects disabled people by undermining the authenticity of their lives, reinforcing the hegemony of biomedicine through eugenic elimination of impairment, and through the active promotion of biological determinism. More generally, genetic determinism can reduce social problems to individual pathology. A language of individual rights masks strong cultural pressures to make particular decisions, and to hold individuals responsible for their own health and for the genetic health of their offspring.
Other criticisms of the new genetics and the Human Genome Project focus on the scientific limitations of reductionism (Eisenberg 1995; Rose 1997; Tauber and Sarkar 1992). The link between genotype (genetic makeup) and pheno-type (physical characteristics and symptoms) is complex; the range of genetic diversity and the complex action of genes and their interaction with the environment challenge the usefulness of a reductionist approach, as evidenced in the limitations of genetic testing described earlier. The quest to map and sequence the whole human genome will not necessarily help with explaining complex biological interactions, and thus may not answer questions significant to biology. Shuster has noted that The leaders of the Human Genome Project have thus created, through their world views, a “paradigm shift” in genetics and an aggressive, simplifying, reductionist perception of genetic knowledge and of humans. Their immediate success in research strategy has enabled them to pass persuasively from science to social implications and to express powerfully their views in the form of reductionist and deterministic generalization in advance of experimental evidence’ (Shuster 1992: 121). That this paradigm finds a powerful position in popular culture has been well documented by Nelkin and Lindee (1995).
Science and its applications, then, do not operate in a vacuum but reflect and influence wider social and cultural processes. The social and cultural changes in late modernity suggest a reification of the individual (Giddens 1990, 1991) concerned with planning his or her future. There is also a growing emphasis on health as something that an individual can and should have some control over. This may contribute to an imperative of health as something that individuals, with the support of medical technology and surveillance, should seek to attain. Genetic interventions may reinforce this emphasis on individual responsibility for health. Any difference between health and beauty or perfection may be conflated, potentially blurring a distinction between interventions that enhance human potential and those that ameliorate disease. There are concerns that developments in cloning and gene therapy may lead inexorably down this road, both because of limited regulation and through some acceptance of therapeutic potentials. The negative values attributed to disease and impairment are often taken for granted, rather than openly discussed. However, definitions of health and disease are socially produced, involving cultural values as well as political and economic processes (Petersen 1998). However, an emphasis on the promotion of health, the prevention of disease, and the amelioration of suffering may be used to dismiss eugenic concerns about engineering genetic improvement and mask the values underpinning definitions of disease and how those thus identified are treated. Society is hierarchically organized; people have differential access to health-care resources, and indeed inequalities in health are at least in part socially derived. Genetic interventions may reinforce inequalities if only those who have sufficient resources are able to access the relevant technology. This may lead to a genetic underclass, consisting of those unable to make use of genetic interventions, or those excluded from mainstream society because of their genetic makeup.
The link between biotechnology companies and genetic research and practice adds further impetus to genetic determinism and geneticization. Industry is directly involved in the race to complete the mapping and sequencing of the human genome because of the lucrative patenting this will bring. The invention of tests for a range of genetic conditions, both common and rare, or for genetic predisposition to disease (even though still of dubious practical value to patients), is proving profitable for these companies. Such interventions reinforce dependence by doctors and patients on high-technology diagnostics and create definitions of disease based on genotype not phenotype. Genetic tests are also proving particularly useful in the United States, where both insurance companies and employers may use genetic information to screen out individuals at risk of genetic disease. The implications of this may be the creation of an uninsurable genetic underclass, and of the onus of responsibility for workplace-induced ill health being placed on the individuals themselves. Medicine, the biotechnology industry, and insurance companies are powerful lobbyists, all of whom may benefit from increasing the range of medical interventions, dependent on ever more complex technologies, aimed at predicting, diagnosing, or treating disease at the level of the individual. A powerful alliance between medicine and the biotechnology industry will shape the choices available to individuals and divert attention away from the social processes that shape inequalities, the experience of ill health, and the human condition.
However, neither science nor culture is monolithic, and dissension and diversity are present in both. The Human Genome Project, although rapidly progressing in its aim to map and sequence the whole human genome, has not met its early promise; it has its ardent critics both within and outside biology. Popular culture, while embracing and reinforcing genetic determinism, does not necessarily reflect the lives of ordinary people, for whom scepticism and ambivalence towards science in general, and genetics in particular, may lead to a more critical engagement with the new genetics (Kerr et al. 1998c). Public debate involving a range of people may help to generate critical and useful discussion on the direction of research and acceptable applications. This may enable a more creative dialogue to be achieved at the level of research and policy.
Public Debate and Public Involvement
Because many different commentators, professionals, and lay groups agree that the new genetics has significant social implications, public debate may flourish, forging new paths in democratic science and health-care policy. For example, in an unprecedented acceptance by scientists of the implications of their work for society, the Human Genome Project has devoted roughly 3 per cent of its budget to consider ethical, legal, and social issues. Acceptance of some responsibility for the social impact of science is clearly important, although this can also protect the authority of science in an increasingly ambivalent and sceptical environment (Beck 1992; Gieryn 1983; Kerr et al. 1997). Scientists play a key role on committees charged with considering the social, ethical, and legal implications of genetics research and applications and are thus in a powerful position to frame the ensuing debates; this may serve to limit the nature of public involvement.
Public debate is often cited as an appropriate way of restraining the potential ‘abuse’ of genetics. However, the tendency is to use calls for public debate to promote the need for better public understanding of science (Nuffield Council on Bioethics 1993), rather than for inclusive and critical engagement with policy decisions. This discourse rests on the twin assumptions that the public is generally not well informed about the scientific foundations of the new genetics, and that such scientific knowledge is essential for meaningful debate and decision making. In Britain, for example, a prominent clinical geneticist has pointed to the ‘poor state of education of the public regarding science in general and genetics in particular’ as limiting the possibilities for public debate about future developments (Harper 1992: 721). In North America, too, scientists and clinicians have bemoaned the fact that ‘the public is grossly ignorant of the discoveries of science and of the way science works’ (Griffiths 1993: 230). Public response to the first wave of services developed from the new genetics has been seen as evidence of the poor state of public understanding, rather than reflecting active decision making. Knowledge questionnaires, often administered in conjunction with screening or testing, have been taken as providing further confirmation of public ignorance. In many ways this reflects the views of the public itself. When asked in population surveys, only a minority of respondents report ‘a great deal of knowledge’ or ‘a clear understanding’ of genetics or genetic screening (Durant et al. 1996). Even in more informal contexts, lay people express anxieties about their lack of relevant knowledge and competence in discussing issues associated with the new genetics (Kerr et al. 1998a). Such self-deprecation may be another barrier to effective public engagement with science.
However, the characterization of public mistrust and resistance to genetic testing and screening, as based on popular ignorance of scientific facts, can be challenged. As Turney (1995) has noted, much less attention is paid to why people might want to understand genetics or what it is that they might wish to know. Knowledge, of various kinds, will be taken up and used in different ways by different people, in different contexts, depending on both relevancy and social opportunity (Lambert and Rose 1996; Parsons and Atkinson 1992; Wynne 1991). The ‘deficit model’ of public understanding is challenged once lay accounts are analyzed in their rich complexity. For example, Kerr et al. (1998a) found that the general public was able to draw on a range of knowledge that they could mobilize to produce sophisticated and discerning arguments about the social and ethical issues raised by the new genetics—the very area in which scientists and others demand public debate. Moreover, their knowledge extended well beyond the ‘technical’ information of concern in traditional studies of the public understanding of science to incorporate knowledge in a range of other domains, including knowledge of the methods of science, of the institutional processes of science, and cultural knowledge. The ‘factual accuracy’ of their knowledge varied, reflecting the range of personal and professional experience on which individuals could draw. However, Kerr et al. argue that factual accuracy was of limited significance, as information that was strictly accurate or technically correct was not necessary for people to be able to discuss issues around the new genetics and health in a competent and sophisticated manner.
There are dangers in putting too great an emphasis on work that assesses the public’s ability to reproduce a set of scientific ‘facts’ at a level deemed appropriate by scientists or medical professionals. The static mastery of ‘facts’ per se is of limited value to the lay public, and the way in which people seek out and use those facts is more important. Standardized questionnaires derived from textbook accounts of genetics inevitably document gaps in lay knowledge of scientific information. By contrast, research methods that put lay knowledge at centre stage are able to reveal the extent of expertise amongst the general public. Even those who claim not to know about ‘medical science’ generally demonstrate considerable scientific knowledge in explaining their condition to others. As Lambert and Rose suggest, ‘specific medical knowledge is often implicit and perhaps what lay people themselves know, they do not regard as scientific’ (Lambert and Rose 1996: 78). The status attributed to a lay person’s knowledge is also sensitive to the context in which it is elicited. Where lay knowledge is not perceived or accepted as relevant (as is generally the case in clinical encounters or research studies) and where power relations devalue their perspective, individuals are less likely to regard themselves as possessing any expertise (Kerr et al. 1998a).
There is considerable misunderstanding of the public by scientists and care-providers, who tend to over emphasize a knowledge deficit and denigrate ‘lay expertise’ (Kerr et al. 1998a). Indeed, Macintyre (1995) has called for the need for a better scientific understanding of the public. It should be remembered that scientific knowledge itself is not a static set of facts that can be correctly grasped once and for all. Medical science, in particular, is contested and provisional, with competing disciplines providing alternative explanations for diseases, and recommendations from each discipline subject to continuous revision. Some of this debate takes place within the public domain, as risks and retractions are covered in the media. Lay people are aware of the provisional nature of scientific knowledge, which may engender appropriate ambivalence and scepticism (Kerr et al. 1998c; Lambert and Rose 1996). As well as misrepresenting the extent of expertise amongst the lay population, the emphasis on the poor state of the public’s understanding of science in general, and genetics in particular, may be misleading in another way. That is, there is a risk that in stressing the poor understanding on the part of the lay population, the gap between lay and medical understanding may be exaggerated (Boulton and Williamson 1995). This can maintain a divide between lay and expert knowledge, which reinforces the legitimacy of the latter and preserves the privileged position of science and medicine in framing the social impact of the new genetics. While education remains important, a mutual recognition of expertise should help pave the way for open dialogue and debate across professional groups and the public. Informed discussion must recognize lay experience of the new genetics, as it is applied in health-care settings in particular. Nuanced understanding, which embraces responses of ambivalence and contestation, may contribute positively to the social shaping of genetic practice. Both proponents and critics of the new genetics must engage with the views and lived experience of those drawn into contact with genetic services. Failure to do so can lead to a reliance on professional expertise and its hegemonic discourse, and also to a tendency to view the lay public as cultural dupes, willingly embracing the promotional rhetoric of genetic determinism and the power of the gene.
The new genetics has the potential to fundamentally alter the way in which disease is defined, understood, and managed. It raises profound issues within health care and beyond. The values associated with the new genetics, especially the prevention and treatment of disease, both reflect and take for granted a range of social and cultural processes. The implications of ever more narrowly defined disease categories and ever more complex treatments and interventions may lead to an expansion of health-care services aimed at the individual and his or her genetic make-up. The costs to society of these developments will be vast, and may lead to greater inequalities in both health and health-care provision. At a wider level, the inclusion of a range of other traits within the genetic gaze may incite eugenic intervention aimed at improving the human condition. Although genetic testing and screening has limited value, and has not always been taken up enthusiastically, wider use of testing for insurance or employment purposes remains likely. Research continues apace, and developments in cloning techniques, gene therapy, pharmaceuticals, and xenotransplantation all suggest that genetic science will remain at the forefront of health-care debates and thus demand the critical attention of social scientists interested in health and medicine.
Understanding these issues requires a consideration of the social contexts that shape genetic research and medical practice, as well as individual and cultural responses to these developments. It is important to recognize that scientific knowledge is socially produced, and that there are strong cultural, economic, and political reasons why research takes the direction it does (Barnes et al. 1996). In relation to genetics, a close association with biomedicine—with the rhetoric of the ability to detect and cure disease—offers what may be a culturally acceptable form of genetic determinism. This can help protect scientific authority, enable ever more developments in medical interventions, and serve the interests of the biotechnology industries. Although some improvements in health will almost certainly derive from genetic interventions, the discourse of promise is matched by one of concern both within and outside science and medicine. The way in which genetics and genetic services develop is not uncontested, and is shaped by the interplay of interests of a range of competing groups. These groups are themselves diverse, containing proponents and critics alike. A recognition of this contestation and the differential power associated with different groups’ positions is a necessary first step towards the possibility of a social shaping of science and technology that may be truly inclusive of the range of interests of those affected by, or concerned with, such developments.
Although it has been recognized that vigorous public debate may serve to constrain potential abuses of genetics, the underlying discourses of such pleas tend to preserve a lay-expert divide, with the public construed as ignorant. They also tend to separate science from its application, with an emphasis only on the social context and implications of the latter. At the present time, the debates that take place around the new genetics, and the committees and regulatory bodies involved, tend to be dominated by scientists and clinicians. Their discourse embraces an important but limited set of ethical concerns (Kerr et al. 1997). This may indeed suppress more critical discussion, especially around the role of industry in a free market (Paul 1992) and around issues relating to definitions of disease and quality of life (Shakespeare 1995). The emphasis on individual choice, so fundamental to the current debates about the new genetics and health, fails to recognize the structural limitations on choice and casts issues of health and disease in individual and medical terms (Petersen 1998).
Current developments in genetics are shifting away from an emphasis on testing for the prevention of disease towards ever more sophisticated classifications of disease, diagnostics, and treatments (Bell 1998). This trend seems to generate much less public debate than, for example, the use of prenatal testing, or the use of genetic information by insurance companies. However, the implications are also far-reaching: disease may become increasingly defined by technology not patient experience, yet also become an attribute of an individual patient in terms of their unique genetic make-up, lifestyle, and social location. Research into the social causes of disease may take an increasingly genetic turn, although this may also promote understanding of the complex relationship between genes and the environment. However, industry, in terms of developing pharmaceutical and diagnostic tools, will be much more interested in promoting interventions aimed at the level of the individual rather than at the amelioration of the social factors known to contribute to inequalities in health.
A social scientific understanding of the social context of the new genetics should embrace not only an understanding of the behaviour of individuals and groups in response to scientific developments, but also a broader analysis of these developments themselves. Social science, through its emphasis on social relations, has a crucial role to play in promoting an understanding of scientific and technological developments as rooted in social action and cultural values. Its contribution can help to develop a reflexive awareness of the context within which research and its applications are developed. By analyzing what is often taken for granted, and by challenging traditional boundaries—for example, the distinction between experts and lay people, or health and disease—social scientists are well placed to move discussion forward. In this way society, in the form of its social institutions as well as through the behaviour of individuals and groups, will be ready for the applications arising from the new genetics because it has been openly involved in determining the direction of research and practice. Social science also has a particular part to play in ensuring that the social factors that influence health, illness, and disease remain on the research and policy agenda. By working with geneticists and others to develop holistic and sophisticated understanding of the range of processes that make up human experience, complex models of human society and behaviour can be developed. Such analyses from social scientists, along with the range of lay expertise present in different public groups, and the diversity of views amongst scientists and clinicians themselves, should form the core of all debates and policies around the new genetics. As Duster observes: ‘In a heterogeneous mix, the public forum for this debate needs to be vigorous and informed, not just by modest levels of technical knowledge about genetic or molecular biological developments, but about the role of power and the relative social locations of key actors in the determination of the knowledge and its application’ (1990: 128).