Lindee Susan
Department of History and Sociology of Science, University of Pennsylvania, United States.
Stud Hist Philos Biol Biomed Sci. 2016 Feb;55:45-53. doi: 10.1016/j.shpsc.2015.09.001. Epub 2015 Oct 9.
In this paper I track the history of post-1945 human genetics and genomics emphasizing the importance of ideas about risk to the scientific study and medical management of human heredity. Drawing on my own scholarship as it is refracted through important new work by other scholars both junior and senior, I explore how radiation risk and then later disease risk mattered to the development of genetics and genomics, particularly in the United States. In this context I excavate one of the central ironies of post-war human genetics: while studies of DNA as the origin and cause of diseases have been lavishly supported by public institutions and private investment around the world, the day-to-day labor of intensive clinical innovation has played a far more important role in the actual human experience of genetic disease and genetic risk for affected families. This has implications for the archival record, where clinical interactions are less readily accessible to historians. This paper then suggests that modern genomics grew out of radiation risk; that it was and remains a risk assessment science; that it is temporally embedded as a form of both prediction and historical reconstruction; and that it has become a big business focused more on risk and prediction (which can be readily marketed) than on effective clinical intervention.
在本文中,我追溯了1945年后人类遗传学和基因组学的历史,强调了风险观念对人类遗传科学研究和医学管理的重要性。借鉴我自己的学术成果,并通过其他新老学者的重要研究成果加以折射,我探讨了辐射风险以及后来的疾病风险如何影响遗传学和基因组学的发展,特别是在美国。在此背景下,我挖掘出了战后人类遗传学的一个核心讽刺之处:虽然将DNA作为疾病起源和病因的研究在全球范围内得到了公共机构和私人投资的大量支持,但密集临床创新的日常工作在受影响家庭的实际遗传疾病和遗传风险人类体验中发挥了更为重要的作用。这对档案记录有影响,因为历史学家较难获取临床互动信息。本文进而提出,现代基因组学源于辐射风险;它过去是且现在仍然是一门风险评估科学;它在时间上既作为一种预测形式又作为一种历史重建形式而存在;并且它已成为一个大型产业,更多地关注风险和预测(可轻易进行市场推广)而非有效的临床干预。