Introduction

Biomedical applications of genetics and genomics remain at the centre, and human health the primary rationale, of the genomic revolution, even as impacts of the ‘molecular revolution’ continue to expand across the life sciences and society. Biomedical applications of genetics and genomics encompass an expanding range of technologies and their social relations, some located within the clinic but many engaged in diverse locations, from laboratories to internet sites, linking increasingly complex networks of patients and families; genes, genomes and cells; multinational corporations; public and private capital; knowledge production platforms; heterogeneous forms of governance, and emerging (and shifting) forms of bio-social identity. Health-related technologies emerging broadly from the Human Genome Project (HGP) operate across boundaries of traditional spaces and relations of biomedical activity, and have contributed to blurring understandings of what ‘biomedical’ applications constitute, in what areas of life they operate, with what intentions and with what effects. ‘Biomedical applications’ are further transformed as attention, among both natural and social scientists, turns increasingly towards translation and movements between ‘bench and bedside’ (see Wainwright et al., this section), as patients, their genes and their cells circulate through clinics, laboratories and markets in what Carlos Novas has termed ‘political economies of hope’ (Novas 2005). The Human Genome Project was promoted with the vision of a new era of medicine,

based on the projected identification of the underlying genetic components of human disease. Biomedical applications would move beyond diagnosis – the identification of ‘genetic disease’ – to intervention, and the development of new treatments and cures exploiting genetic knowledge to directly ‘fix’ the faulty biological building blocks of diseased bodies (as in gene therapy) or correct faulty biochemical products and pathways (as in novel pharmaceuticals). The 1980s saw the introduction of genetic tests which were directed towards detecting deleterious mutations that ‘cause’ diseases including cystic fibrosis and Huntington’s disease. These so-called ‘single gene’ disorders came to define a particular paradigm of biomedical application, that of not only refining diagnosis but of evaluating the ‘genetic risk’ of an individual developing a disease in the future. This paradigm has shaped social understandings as well as treatment of at least some diseases, and has had impacts on the social, embodied experiences of illness, or in the case of disease predisposition, of potential future disease. For example, the discovery of inherited

predisposition genes for the breast and ovarian cancers (BRCA1 and 2), and the introduction of genetic testing, have given clinicians and some women an additional tool for managing both risk and fear, particularly by individualising risk estimates. It has provided cultural narratives as well as biomedical interventions (in the form of novel drug treatments and prophylactic surgery) with regard to managing risk, self and family (Gibbon 2002; Parthasarathy 2003). However, breast cancer may prove to be exceptional with regard to the entry of genetic testing for complex diseases into clinical practice, and it is not at all clear how the flood of discovery of genetic variations associated with relatively low increased risk for complex disorders emerging from genome-wide association studies will translate into biomedical applications. Much of the social and ethical analysis of the ‘new genetics’ has focused on con-

tinuities and discontinuities with past eugenic practices, and on bioethical concepts of autonomy and privacy, through which such rights as that ‘not to know’ one’s genetic susceptibility ‘future’ have emerged and now shape, and indeed are constitutive of, biomedical applications themselves. As genetic testing programmes for some diseases are incorporated into health care provision in the developed or industrialised world, the socio-technical systems that make up these programmes – the information, instrumentation, tissues, processes, organisations, institutional spaces, patient pathways or clinical ‘journeys’, and socio-legal apparatuses – vary among specific national and even regional contexts and are shaped by local contingencies, histories, identities and politics (see Beck and Niewöhner, this section; Parthasarathy 2004). As a range of social science analyses have shown, the genetic testing paradigm has had uneven implications for understanding and managing disease (Hedgecoe and Martin 2008), resisting being understood as simple or straightforward applications of genetics and genomics into biomedical practice. To date, perhaps the most common biomedical application of genetics has been in the

arena of reproduction, including prenatal genetic diagnosis and the prevention of disease through selective termination, carrier testing and the management of ‘risky’ reproduction, and more recently the intersections of molecular genetics and assisted reproduction. Exemplifying intensification of biovalue (Waldby 2002) in the antenatal period, researchers continue to search for less invasive means of applying a wider range of genetic diagnostic capabilities to reproduction. These biomedical applications have, in practice and in discourse, been normalised and routinised at the same time that (at least in some forms) they have engendered ethical debate. Biomedical applications of reproductive genetics to date have raised difficult questions about ‘making up persons’ (Hacking 2007) in the forms of parental and societal choices about the nature and characteristics of children brought into the world. As Anne Kerr (this section) argues, the social, ethical and institutional discourses and practices of reproductive genetics both frame and limit reproductive choices and avoid, rather than acknowledge and confront, the ambivalences they raise for prospective parents, professionals and society. Kerr connects the need to confront ambivalence in the realm of reproductive genetics to possibilities of creative engagement with ambivalence in the broader political community, reminding us, together with the other authors in this section, that how biomedical applications of genetics and genomics are constituted and engaged is reflective of broader political and moral trends. However, many of the biomedical applications projected to emerge from the HGP

remain in the arena of ‘promissory science’ (Hedgecoe 2004). Gene therapy, for example, has proven successful for treatment of but a handful of diseases, despite enormous

expectations (e.g. Stockdale 1999). Likewise, pharmacogenomics has with but few exceptions impressed more with its promises (and cautionary discourses) than its impacts on clinical practice (Hedgecoe 2004). It is interesting and perhaps indicative of the propensity of some social science to emphasise dramatic transformations that one of the more important biomedical applications arising from genetic and genomic sciences has received very little social scientific or philosophical attention – DNA analysis of bacteria, viruses and parasites using RT-PCR, which allows rapid identification in clinical settings and much quicker treatment. While the paradigmatic biomedical application of genetics has been genetic testing in

its various forms, a key driver of genomic applications has been the concept of ‘personalised medicine’ and more recently, ‘the personal genome’, including such applications as nutrigenomics (see Chadwick, this section) which trouble the label ‘biomedical’. Brought forward through intensification of biomedical research seeking gene associations, the increasing rapidity and dropping costs of gene sequencing, and following the commercialisation of links between populations and individual risk and identity such as pioneered by deCODE Genetics, the personal genome is directed towards individual access and use of genetic information related unstably to traditional biomedical applications and spaces. The personalised genome may be justified with recourse to languages of health and disease prevention, but the appeal is towards a geneticised form of self-knowledge, of self-empowerment, of personal control. Applications such as nutrigenomics blur boundaries separating biomedical applications from lifestyle. With the increasing presence of direct to consumer genetic testing products on the internet, with or without the mediation of medical professionals, the socio-ethical ‘information management structure’ that erected around genetic testing – management of privacy and of genetic information has been within families, the sanctity of informed consent, the non-directiveness of genetic counselling – is relegated to the background (or turned on its head) by rationale of consumer rights to access genetic information, to ‘control’ individual destiny, and to evaluate the usefulness of information as well as the scientific claims upon which it is based. Whether nutrigenomics constitutes a biomedical application of genetics and genomics is not a straightforward question, nor will a category such as ‘biomedical applications’ necessarily maintain its meaning, as products of an increasingly consumer-, rather than practitioner-, oriented industry, continue to emerge.