Inclusion and exclusion in the globalisation of genomics; the case of rare genetic disease in Brazil.
Anthropol Med
; 25(1): 11-29, 2018 Apr.
Article
em En
| MEDLINE
| ID: mdl-29533091
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Genômica
/
Doenças Raras
/
Doenças Genéticas Inatas
Tipo de estudo:
Qualitative_research
Limite:
Adult
/
Child
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Anthropol Med
Assunto da revista:
ANTROPOLOGIA
/
MEDICINA
Ano de publicação:
2018
Tipo de documento:
Article
País de publicação:
Reino Unido