As a number of studies have highlighted, various different material practices and objects have been central to evolving research agendas and clinical perspectives and practices within cancer research (Austoker 1988;Lowy 1997) and cancer genetics specifically (Fujimura and Clarke 1992;Gaudilliere 2001;Palladino 2002). Some have even pointed to the centrality of genetic testing to the development of this specialism in relation to breast cancer (Parthasarathy 2003). By contrast plotting the emergence of this clinical speciality in France, Bourret sees the BRCA mutation as 'key player', both a 'clinical tool' and a 'research entity', helping to construct a new arena of health care practice (2005). While these authors acknowledge that the provision of clinical genetic testing for breast cancer risk in the US or France has not been a simple or linear process of translation, there has been less examination of how other tools and technologies central to a predictive approach are utilised or also came to constitute this field of medicine. The data presented in this chapter illustrates how the challenges of genetic testing might make these other tools and techniques especially significant in the dynamics of clinical encounters.
In the UK, testing is currently generally available only to those persons in a family where a gene mutation has been identified in a living affected relative or from whom a blood sample can be obtained. Moreover, because both the BRCA genes are large with hundreds, if not thousands, of different mutations, looking for unknown mutations on the gene is time-consuming and difficult. During my research this meant that it was only possible to test approximately 60 per cent of the BRCA1 gene, looking at 'hot spots' where mutations were thought to lie. It was estimated that this technique picked up about 65 per cent of mutations.1 Once a mutation had been found, then predictive genetic testing of other members of the family could be done relatively simply. But for large numbers of people referred or attending the clinics, a conclusive test result was difficult. This may be because they had no living affected relatives, or because they were still waiting for a result (which could take many months if not, in some cases, years) and/or because the result was inconclusive, linked to an inability to test all the gene. Others may have received a 'negative' test from the BRCA1 gene and were waiting for a BRCA2 test result, which was very much in its infancy at this time.
In sum because of the logistical, technical and economic constraints that characterised genetic testing in the NHS, gene mutations and hence BRCA 'carriers' were, and in many ways continue to be, fairly elusive or indefinable entities and identities. This was no more evident than in the fact that only 50 carriers of a BRCA mutation had been identified at the time of my research in one of the hospitals where I worked.2
More recent data suggests that these figures are still not exceptionally high and that the majority of mutation screening tests in NHS labs produce negative results (NICE 2004). In light of the challenges of positively identifying those carrying gene mutations, the tangibility and materiality of genes become not only more important but also depend on a range of other techniques and tools. This chapter, expanding beyond a narrow analysis of predictive testing per se, explores how, at the same time the prospect of testing and/or the possibility of identifying deleterious mutations have a sustained presence in the clinic, other tools, and techniques and materialities are also an essential component of this medical arena.
The routine procedures of both the clinics where I carried out research are constituted by various practices of risk assessment, explanation and prediction. To a greater or lesser degree, all these processes involve the use of visual frequently paper tools and techniques that relate family history to epidemiological risk data. In performing regulatory functions around triage and risk assessment, these objects are directly linked to the 'conditions of possibility' for genetic knowledge of breast cancer genes (Bourret 2005). Yet in the face of the technological limits, the lengthy timescale and complexity of genetic testing for BRCA mutations, these tools and tests also bring an important materiality to medical practice.
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