Gibbon Sahra, Aureliano Waleska
a Department of Anthropology , University College London , London , UK.
b Department of Anthropology , Universidade do Estado do Rio de Janeiro , Rio de Janeiro , Brazil.
Anthropol Med. 2018 Apr;25(1):11-29. doi: 10.1080/13648470.2017.1381230.
Within the context of a globalising agenda for genetic research where 'global health' is increasingly seen as necessarily informed by and having to account for genomics, the focus on rare genetic diseases is becoming prominent. Drawing from ethnographic research carried out separately by both authors in Brazil, this paper examines how an emerging focus on two different arenas of rare genetic disease, cancer genetics and a class of degenerative neurological diseases known as Ataxias, is subject to and a product of the dynamics of inclusion and exclusion as this concerns participation in research and access to health care. It examines how in these different cases 'rarenesss' has been diversely situated and differently politicised and how clinicians, patients and their families grapple with the slippery boundaries between research, rights to health and the limits of care, therapy or prevention. It illustrates how attention to rare genetic disease in Brazil emerges at the intersection of a particular history of genetic research and public health infrastructure, densely complicated feedback loops between clinical care and research, patient mobilisation around the 'judicialisation' of health and recent state legislation regarding rare disease in Brazil. It highlights the relevance of local configurations in the way rare genetic disease is being made relevant for and by different communities.
在“全球健康”越来越被视为必然受到基因组学影响并必须考虑基因组学的全球化基因研究议程背景下，对罕见遗传病的关注正日益凸显。本文借鉴两位作者分别在巴西开展的人种志研究，探讨了对罕见遗传病两个不同领域（癌症遗传学和一类称为共济失调的退行性神经疾病）的新关注，是如何受制于以及成为包容与排斥动态变化的产物，这种动态变化涉及研究参与和医疗保健获取。它考察了在这些不同案例中，“罕见性”是如何以不同方式定位和政治化的，以及临床医生、患者及其家属如何应对研究、健康权与护理、治疗或预防限度之间模糊的界限。它说明了巴西对罕见遗传病的关注是如何出现在基因研究特定历史与公共卫生基础设施的交叉点上，临床护理与研究之间密集复杂的反馈循环，围绕健康“司法化”的患者动员以及巴西近期关于罕见病的国家立法之中。它强调了地方格局在使罕见遗传病与不同社区相关并由不同社区塑造方面的相关性。
