Staging and Weighting Evidence in Biomedicine: Comparing Clinical Practices in Cancer Genetics and Psychiatric Genetics

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 poste 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.