Latimer Joanna, Hillman Alexandra
Science & Technology Studies Unit, Sociology, University of York, York, UK.
School of Social Sciences, Cardiff University, Cardiff, UK.
New Genet Soc. 2019 Aug 13;39(1):80-100. doi: 10.1080/14636778.2019.1652804. eCollection 2020.
This paper provides a comparison of how genetic biomarkers are used (or not) in three contexts: clinic-based diagnostic work with people; lab-based research on mice and their marbles; and lab-based research on thrashing nematodes. For all the worldwide drive to find biomarkers that can be used in the detection of early, presymptomatic dementia, there is little research on how or when the association between biomarkers and a definitive disease are being made to "hold." First, we show the disjuncture between the animal modeling that underpins laboratory attempts to stabilize genetic biomarkers and the paradigms that inform clinical diagnosis. Secondly, we develop this theme to show how in our third site, an epigenetics "worm" laboratory, neurodegenerative changes are explored as located in specific gene-environment interactions over time. We speculate whether such an enactment brings us closer to a notion of "situated biology," to undercut possibilities of making genetic biomarkers of preclinical dementia hold.
本文比较了基因生物标志物在三种情况下的使用方式（或未使用方式）：针对人群的基于临床的诊断工作；基于实验室对小鼠及其相关研究；以及基于实验室对扭动线虫的研究。尽管全球都在努力寻找可用于早期、症状前痴呆检测的生物标志物，但对于如何或何时使生物标志物与明确疾病之间的关联得以“确立”，却鲜有研究。首先，我们展示了支撑实验室稳定基因生物标志物尝试的动物模型与指导临床诊断的范式之间的脱节。其次，我们拓展这一主题，以展示在我们的第三个研究地点，即一个表观遗传学“蠕虫”实验室中，神经退行性变化是如何随着时间推移在特定基因 - 环境相互作用中进行探索的。我们推测这种研究方式是否使我们更接近“情境生物学”的概念，从而削弱了使临床前痴呆的基因生物标志物得以确立的可能性。
