Inclusion and exclusion in the globalisation of genomics; the case of rare genetic disease in Brazil

Abstract

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.

Cancer and the Politics of Care

“…Based on the constitutional commitment to universal healthcare as a citizen's right, patients seek access to highcost drugs through judicial actions, a system of seeking and obtaining access to health resources which has dramatically expanded in Brazil since the 1990s. This initially focused on accessing drugs for people living with HIV and has since extended to other medications, both basic and specialist healthcare services and interventions for a wide range of conditions including cancers and rare genetic diseases (Aureliano and Gibbon 2020;Biehl 2013;Diniz, Medeiros and Schwartz 2012;Gibbon and Aureliano 2018). This scenario reveals, even as it reproduces, the intersection between old and new health inequalities in collective efforts to access cancer treatment.…”

Aleijar as antropologias a partir das mediações da deficiência

“…Também no âmbito do desenvolvimento de tecnologias e produtos para pessoas com deficiência, a literatura antropológica aponta o quanto estes são historicamente fundamentais para constituir perspectivas sobre normalidade e modos de circunscrever a deficiência no âmbito social e político (Diniz, 2007;Rapp, 2013;Lopes, 2019;Shakespeare, 2006). Temos estudos que focam na interface entre tecnologias biomédicas e identidade no desdobramento de formas variáveis de biossociabilidade Aureliano, 2018;Novas, 2008;Rabinow, 2003;Santos;Beltrão, 2012;Valle;Gibbon, 2015). Os estudos também se concentram em destacar os avanços tecnológicos associados à emergência de novas tecnologias reprodutivas e de novas formas de diagnóstico intrauterino de pessoas com deficiência 4 Adaptação razoável "significa as modificações e os ajustes necessários e adequados que não acarretem ônus desproporcional ou indevido, quando requeridos em cada caso, a fim de assegurar que as pessoas com deficiência possam gozar ou exercer, em igualdade de oportunidades com as demais pessoas, todos os direitos humanos e liberdades fundamentais" (Brasil, 2009, p. 4).…”

Legitimate suffering: a case of belonging and sickle cell trait in Brazil

“…After many years of grassroots activist work and an eventual increase in political will with political regime changes, the Política Nacional de Saúde Integral da População Negra, or National Health Policy for the Black Population (NHPBP), was drafted in 2006 and approved in 2009. The policy—lauded as a successful achievement in the name of judicialization (Gibbon and Aureliano 2018 )—was created to address health disparities and inequities that were shown to exist within the Black population. The policy encouraged, if not required, that civil society be involved in governmental relations and policymaking.…”