Abstract
ABSTRACTWithin 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.
Highlights
Definitions of rare disease are internationally variable, often defined in terms of prevalence and sometimes further qualified with reference to conditions that are ‘life threatening’ or ‘chronically debilitating’
In Brazil, this reluctance must be understood in relation to a complex set of variables linked to limited access to genetic tests in the public health system, the lack of therapeutic options to treat diseases identified by testing, the prohibition of abortion in cases of congenital abnormalities, the high cost of assisted reproduction techniques to select embryos (e.g. PGD Pre-Implantation Genetic Diagnosis) and the particular moral or religious restrictions related to contraception, among certain communities
We have examined how an emerging focus on rare genetic disease in Brazil is subject to and a product of particular dynamics of inclusion and exclusion at the interface with an expanding terrain of globalising genomic research and medicine
Summary
Definitions of rare disease are internationally variable, often defined in terms of prevalence and sometimes further qualified with reference to conditions that are ‘life threatening’ or ‘chronically debilitating’. The cultures of activism around articulations of ‘rights to health care’, that have emerged somewhat differently in the context of research and medical interventions related to BRCA and R337h, provide another illustration of how diverse aspects of cancer genetics in Brazil are subject to different dynamics of inclusion/exclusion.
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