Translating genetics beyond bench and bedside: A comparative perspective on health care infrastructures for ‘familial’ breast cancer

Abstract

Developments in genomics research are considered to have great potential for improving health care – making genomics an urgent site for translational efforts. Yet while much emphasis is put on the technical challenges of translation, there is less scholarly attention for the social infrastructures through which novel medical interventions may be delivered to patient populations. Reflecting the idea that cancer is at the frontier of genomic applications in health care, this paper explores how the assessment of familial breast cancer risks was ‘translated’ into routine health care in Germany, the Netherlands and the United Kingdom. The paper identifies regulation, institutionalization and standardization as key mechanisms of translation that find distinct expression in particular sociocultural contexts and shape both the social and technical making of genomics into routine clinical practice. Translation is therefore an area of social as well as technical concern, and therefore requires collective decision-making.

Imaginaries as infrastructures? The emergence of non-invasive prenatal testing in Austria

“…It can draw our attention to how commercial pioneers might, at times, mobilize extant practices and moralities to establish their place in routine biomedicine, 'infrastructurizing' extant imaginaries while adding on new devices to established routines. The interplay between the new and the old (Gibbon et al 2018), and the local and global, or the contexts in which genomic technologies are adopted and the shape of these technologies, is already well documented, particularly in regard to health care systems and health care infrastructures (Cambrosio et al 2018;Parthasarathy 2012;Aarden 2016;Aarden et al 2009;Zeng et al 2016). However, the case at hand suggests that in our contemporary worlds, such 'contexts' can also take a more subpolitical shape and include elements of broadly shared imaginaries or transnational epistemic networks of biomedical professionals, which might be amenable to be infrastructurized.…”

Taking after a parent: Phenotypic resemblance and the professional familialisation of genomics

“…(Bourret et al, 2011, p. 816. See also Rabeharisoa & Bourret, 2009) It would be a mistake both to claim that such arguments are dominant in the literature and that this work focuses solely on clinical practice, covering as it does a range of activities from the 'genomic designation' of new medical syndromes (Navon, 2011), to the reshaping of regulations via the development of pharmacogenomics (Hogarth, 2012) and the interaction between health infrastructures and genomic technologies (Aarden, 2016). However, there remains a specific thread arguing that 'by redefining clinical-laboratory interfaces, genomics is simultaneously redefining key features of medical work' noting that 'a new wave of STS investigations have provided clear evidence of change in clinical practice driven by the adoption of genomic technologies' (Cambrosio et al, 2018, p. 144).…”

“…The clinical judgement still remains central and the authority of doctors lies in the art of immediately “seeing” a look that matches a diagnosis and subsequently directing further testing (genetic or non‐genetic).In contrast to this is a position that suggests that, as they move into practice, new genetic technologies will displace clinical judgement from the genomic clinic. Such a position is gaining ground in STS and the social studies of genomics and moves from ‘studies that show how [some] new diagnostic categories and diseases are produced not by clinical judgement but by molecular technologies’ (Skinner et al., 2016, p. 1314) to the position that:

non‐clinical, laboratory‐based results increasingly tend to dictate, rather than simply contribute to clinical decisions, and by the same token encroach upon what was once the uncontested domain of the clinician, namely clinical decision‐making.

It would be a mistake both to claim that such arguments are dominant in the literature and that this work focuses solely on clinical practice, covering as it does a range of activities from the ‘genomic designation’ of new medical syndromes (Navon, 2011), to the reshaping of regulations via the development of pharmacogenomics (Hogarth, 2012) and the interaction between health infrastructures and genomic technologies (Aarden, 2016). However, there remains a specific thread arguing that ‘by redefining clinical‐laboratory interfaces, genomics is simultaneously redefining key features of medical work’ noting that ‘a new wave of STS investigations have provided clear evidence of change in clinical practice driven by the adoption of genomic technologies’ (Cambrosio et al., 2018, p. 144).…”

Alzheimer's Patient Organizations' Role in Enabling Citizenship Projects: A Comparison of the USA, Germany, and the UK

“…Previous studies have shown how collective health-related behavior changes in line with national differences in regulatory policies and infrastructure arrangements (Jasanoff, 2011 ; Aarden, 2016a , b ). For example, BRCA genetic testing “clients” are being configured as consumers purchasing tests in the US, and as citizens who can get state-sponsored access to testing and care in Britain (Parthasarathy, 2005 ).…”