Department of Sociology, Columbia University, International Affairs Building, 420 West I 18th Street, 8th Floor, MC3355, NewYork, NY 10027, USA.
Soc Stud Sci. 2011 Apr;41(2):203-26. doi: 10.1177/0306312710391923.
This paper reports and discusses 'genomic designation' as a way of classifying people. In genomic designation the object of biomedical analysis--and the concomitant medical category that is subject to scientific, clinical, and social action--is delineated on a genomic basis, while the phenotype is decentralized and tabulated post factum. Unlike prominent sociological concepts such as biosociality or geneticization, where genetic proclivities for or explanations of phenotypic categories affect social processes, genomic designation treats characteristics of the genome as the essential referent of new categories of illness. I outline the relevant sociological literature and the shift to what Nikolas Rose has called the 'molecular gaze' before explicating the concept ofgenomic designation and its half-century history. I use 22q13 Deletion/Phelan-McDermid syndrome as an example of genomic designation: investigations into the deletion of genetic material at site q13 on the 22nd chromosome preceded and made practicable the delineation of a syndrome more than a decade later, even though the associated phenotype is not distinct enough for diagnosis. Finally, I discuss the implications of this turn to 'rigidly designate' kinds of people according to observations made at the level of the genome and outline directions for future research.
本文报告并讨论了“基因组指定”作为一种分类人群的方法。在基因组指定中，生物医学分析的对象——以及随之而来的、受到科学、临床和社会行动影响的医学类别——是基于基因组划定的，而表型则是去中心化的，并在事后进行制表。与生物社会性或遗传化等突出的社会学概念不同，后者是指表型类别的遗传倾向或解释会影响社会过程，基因组指定将基因组的特征视为新疾病类别的重要参照。我概述了相关的社会学文献，以及向 Nikolas Rose 所谓的“分子凝视”的转变，然后详细阐述了基因组指定及其半个世纪历史的概念。我以 22q13 缺失/菲兰-麦克德米德综合征为例来说明基因组指定：对 22 号染色体 q13 位点遗传物质缺失的调查先于十多年后对综合征的划定，并使其变得可行，尽管相关表型还不够明显，无法进行诊断。最后，我讨论了根据基因组水平的观察结果“严格指定”人群的这种转变的影响，并概述了未来研究的方向。
