Paper short abstract:

Focusing on a cancer syndrome known as Li-fraumeni in an emerging field of Brazilian cancer genetics, this paper examines the growing interest in rare genetic disease as part of a globalizing discourse of genomic health care.

Paper long abstract:

An interest in 'rare' genetic disease has long been part of medical genetic research, seen as an opportunity to identify the molecular pathways of 'neglected diseases'. Within the context of a globalizing 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. As expanding epidemiological data reveal the variable frequency of genetic markers across diverse populations there is a re-signification of the relevance of rare genetic diseases linked also to expanding markets and purported beneficiaries.

Focusing on a cancer syndrome known as Li-fraumeni in an emerging field of Brazilian cancer genetics, this paper examines the growing interest in rare genetic disease as part of a globalizing discourse of genomic health care. Drawing from ethnographic research in the southern region of Brazil in cancer genetic clinics it reflects on how this cancer syndrome is being constituted at the interface with particular transnational research agendas. It examines how the identification of a specific genetic marker associated with the syndrome in the south of Brazil, R337h, is used as a resource in addressing 'neglected' clinical needs and to raise questions about the very parameters of how rare diseases are defined and addressed. In this way it seeks to show how an emerging focus on genomics in the global health is characterized by a multiplicity of discourses where both the global and the local participate in constituting its meaning, relevance and scope.