Staging and Weighting Evidence in Biomedicine: Comparing Clinical Practices in Cancer Genetics and Psychiatric Genetics
Staging and Weighting Evidence in Biomedicine: Comparing Clinical Practices in Cancer Genetics and Psychiatric Genetics
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DOI：
10.1177/0306312709103501
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发表时间：
2009-10-01
影响因子：
3
通讯作者：
Bourret, Pascale
中科院分区：
文献类型：
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作者：
Rabeharisoa, Vololona;Bourret, Pascale
本文旨在为生物医学临床工作的讨论做出贡献。它借鉴了两种临床实践之间的比较：（1）乳腺癌/卵巢癌和结肠癌的癌症遗传学； (2)自闭症及其相关综合征的精神遗传学。我们认为，临床并不反映遗传还原论，也不意味着直接回归到以前的临床传统。我们表明，诊所受到我们研究的实践中的三项变化的影响。第一个变化涉及临床环境：临床工作现在由“生物临床集体”进行，聚集来自不同学科和活动的研究人员和临床医生，并共同搜索生物学和病理学。第二个变化涉及临床工作的内容，我们建议将其称为“突变诊所”。该诊所涉及收集和比较多种异质数据的紧张工作，以记录突变的生物学性质和临床相关性，这些突变的状态不明确，其影响也不确定。第三个变化涉及临床工作的动态，它现在与研究重叠。因此，做出判断和做出医疗决定不再是简单地做出诊断或预后的问题。相反，它包括对疾病的分类学领域以及描述性和解释性模型的解释，突变可能在其中发挥作用。我们最后讨论了生物医学临床工作的客观性形式。我们的观点是，在当前的后基因组时代，将遗传标记视为疾病或疾病风险的客观证据绝对是不合适的。相反，诊所必须不断地产生突变和生物医学实体的意义和相关性，这些实体往往会扩散并定期侵入临床环境。
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.