Suchergebnisse

Since the late 1980s, in France and in a number of other countries, cancer genetics testing has become a clinical reality, particularly for hereditary breast and ovarian cancer. BRCA tests allowing for the assessment of an increased cancer risk among patients and their healthy relatives are now being routinely performed as part of clinical practice. Based on fieldwork on French clinical cancer genetics and on the French Cancer Genetics Collaborative Network, this paper examines the configuration of entities, actors and activities mobilized by the performance of BRCA testing, and argues that the development of clinical molecular genetic practices is predicated upon the development of new forms of collaborative work that lead to a transformation of the content and organization of medical activities and judgements. The paper analyses three major collective configurations - local multidisciplinary collectives, data collectives and new clinical collectives - and argues that they not only provide the material conditions needed to carry out the relevant activities, but also articulate a series of distinctive bio-clinical interventions. These interventions provide an interface with research activities, produce the epidemiological measurements and tools that are a sine qua non for clinical work in this field, and, most importantly, establish the conventions that underlie practices, which define the criteria that turn tools and novel entities into operational components of clinical settings. It thus appears that in the field of clinical cancer genetics, bioclinical collectives, as a locus of expertise, have replaced the individual judgement of the practicing clinician.

This paper seeks to make a contribution to the discussion on what clinical work consists of in biomedicine. It draws on the comparison between two clinical practices: (1) cancer genetics of breast/ovarian and colon cancers; and (2) psychiatric genetics of autism and its related syndromes. We argue that the clinic does not reflect genetic reductionism, nor does it entail a straightforward return to the previous clinical tradition. We show that the clinic is affected by three changes in the practices that we studied. The first change concerns clinical settings: clinical work is now performed by 'bioclinical collectives', gathering researchers and clinicians from various disciplines and activities, and conjointly searching biology and pathology. The second change concerns the content of clinical work that we propose to call 'clinic of mutations'. This clinic involves the intense work of collecting and comparing multiple and heterogeneous data to document the biological nature and the clinical relevance of mutations, whose status is ambiguous and whose effects are uncertain. The third change concerns the dynamics of clinical work, which is now overlapping with research. As a consequence, the elaboration of a judgment and a medical decision is no longer a matter of simply making a diagnosis or prognosis. Rather it consists in accounting for nosographic domains and descriptive and interpretive models of diseases, into which mutations may plausibly play a role. We conclude with a discussion of the form of objectivity underlying clinical work in biomedicine. Our contention is that in the current post-genomic era, thinking of genetic markers as objective proofs of a disease or a risk of disease is definitely inappropriate. Rather, the clinic has to constantly produce the meaning and relevance of mutations and biomedical entities that tend to proliferate and regularly invade the clinical settings.

The paper examines two large-scale, North American and European clinical trials designed to validate two commercially available genomic tumor signatures that predict a patient's risk of breast cancer recurrence and response to chemotherapy. The paper builds on empirical evidence from the two trials to explore the emergence of diverse regulatory-scientific hybrids; that is, the paper discusses configurations of genomic practice and bioclinical work that depend on linkages between technical, commercial, patient, clinical, and legal interests and institutions. The development of the genomic signatures for each trial — Onco type DX and MammaPrint — has followed quite different routes. Onco type began as a commercial platform: the company that produced it did not discover a signature but rather constructed it by asking users at every step what clinical question they wanted the signature to answer and what data would be credible in that regard. The test has been designed to minimally disrupt existing clinical workflows. MammaPrint , on the other hand, began as a breast cancer signature: the researchers who discovered it, at the Netherlands Cancer Institute (NKI), established a company to commercialize it as a test after the fact. MammaPrint requires a change in pathologists' routines. Thus, while these two trials signify a new departure for clinical cancer trials on a number of levels — they both incorporate new models of interaction between biotech companies and public research, and they both aim to establish the clinical relevance of genomic markers — they also embody different socio-technical scripts: one attempts to accommodate established routines, while the other openly challenges prevailing evidential hierarchies and existing biomedical configurations.

Collaborative forms of work such as extended networks, expert groups, and consortia increasingly structure biomedical activities. They are particularly prominent in the cancer field, where procedures such as multicenter clinical trials have been instrumental in establishing the specialty of oncology, and subfields such as cancer genetics, where bioclinical activities—for example, testing for breast and ovarian cancer (BRCA) genes and follow-up interventions—are predicated on the articulation of a number of tasks performed by new clinical collectives. In this article, we examine the founding and development of a French bioclinical collective—the Groupe Génétique et Cancer (GGC)—that coordinates and structures the activities of most French actors in cancer genetics and operates simultaneously in the clinical, research, and regulatory domains. To examine the group's structure and dynamics, the article combines information gathered through traditional fieldwork methods with information elicited from a coauthorship and semantic-network analysis of the publications of GGC members from 1969 to 2001.

Parce qu'elle constitue l'archétype d'une innovation en train de se faire et que son extension aux facteurs de risque des principales pathologies de l'adulte n'obéit pas encore à une trajectoire claire, la génétique médicale constitue un objet de recherche privilégié pour une approche en sciences sociales visant à dépasser la dialectique mécaniste entre offre et demande des modèles économiques et sociologiques traditionnels. Cet article est consacré plus particulièrement à l'émergence des consultations de génétique en cancérologie, il est articulé autour de quatre champs principaux où sont susceptibles de se nouer des configurations d'acteurs, pour l'instant encore largement indéterminées, mais qui semblent déterminantes pour l'avenir et la portée du développement de cette activité. Le premier est celui des modes d'articulation entre activité clinique d'oncogénétique et recherche biologique " fondamentale ", le deuxième est celui de la frontière entre une activité demeurant restreinte et un éventuel " dépistage " beaucoup plus généralisé de facteurs de risque génétiques en population, frontière dont la délimitation dépendra directement des possibilités d'interventions à visée préventive, le troisième est celui des modes de spécialisation de l'oncologie génétique dans l'ensemble des disciplines médicales préexistantes, et enfin le dernier est celui de l'impact possible de la " médecine prédictive " sur les mécanismes d'assurance collectifs qui président actuellement à la gestion du risque-maladie en France comme au Canada.