The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social stratification. We estimated individual ancestry proportions in a sample of 7,342 subjects ascertained in five countries (Brazil, Chile, Colombia, México and Perú). These individuals were also characterized for a range of physical appearance traits and for self-perception of ancestry. The geographic distribution of admixture proportions in this sample reveals extensive population structure, illustrating the continuing impact of demographic history on the genetic diversity of Latin America. Significant ancestry effects were detected for most phenotypes studied. However, ancestry generally explains only a modest proportion of total phenotypic variation. Genetically estimated and self-perceived ancestry correlate significantly, but certain physical attributes have a strong impact on self-perception and bias self-perception of ancestry relative to genetically estimated ancestry.

‘‘Undone science’’ refers to areas of research that are left unfunded, incomplete, or generally ignored but that social movements or civil society organizations often identify as worthy of more research. This study mobilizes four recent studies to further elaborate the concept of undone science as it relates to the political construction of research agendas. Using these cases, we develop the argument that undone science is part of a broader politics of knowledge, wherein multiple and competing groups struggle over the construction and implementation of alternative research agendas. Overall, the study demonstrates the analytic potential of the concept of undone science to deepen understanding of the systematic nonproduction of knowledge in the institutional matrix of state, industry, and social movements that is characteristic of recent calls for a ‘‘new political sociology of science.’’

Introduction 5 Cell and Gene Therapy 9 Modification of splicing: Antisense oligonucleotides and small molecules 21 Tissue Engineering 24 Small trials, difficult statistics, difficult regulation and data reproducibility. 28 Health economics of regenerative medicine 31 Regulation of stem cell therapies and regenerative medicine 41 Ethics 43 Public engagement and trust 54 Conclusions 56

Resumo As doenças genéticas raras constituem um importante problema de saúde pública, mas ainda são pouco estudadas na perspectiva da Saúde Coletiva. Este artigo tem por objetivo analisar os itinerários terapêuticos de pacientes com doenças genéticas raras nas cidades do Rio de Janeiro, Salvador e Porto Alegre, tendo por foco os desafios materiais, emocionais e estruturais enfrentados na busca por diagnóstico e tratamento. Foram realizadas entrevistas semiestruturadas com pacientes/cuidadores e profissionais de saúde em serviços públicos de genética médica. Observou-se que a experiência da doença genética rara, além de ser um desafio em si pelo caráter debilitante e incapacitante, é agravada por problemas de ordem prático-relacionais e burocrático-institucionais que não se resolvem com a chegada a um serviço especializado. A existência de longos itinerários terapêuticos até o diagnóstico, o desconhecimento dos médicos não geneticistas sobre as doenças raras, as dificuldades de transporte e de acesso a especialistas, a exames diagnósticos e complementares e o acesso a medicamentos e insumos alimentares de alto custo foram comuns às narrativas nas três cidades. A adesão aos cuidados oferecidos exigem estratégias de ação que dependem de arranjos envolvendo familiares, médicos, associações de pacientes e o Estado.

Making use of a comparative perspective on the emergence of 'breast cancer genetics' in the different cultural context of the UK and Cuba, this article examines the tensions between the modern promise of genomics as personalised medicine and a commitment to public health. Focusing primarily on the Cuba context and drawing on ethnographic research as part of a collaborative project working with genetic professionals and publics, the article examines the particular technologies, identities and socialities at stake in an emerging and evolving field of genetic medicine. It highlights how long-standing continuities in the commitment to the equitable provision of public health, particularly as this relates to 'family medicine', are central to understanding the scope and expansion of 'community genetics' interventions, even when at the level of local practice, public health is also now subject to the unequal dynamics of economic necessity through the working out of 'lo informal'. Illuminating the different ways agency, risk, responsibility, citizenship and activism get configured by and between publics and health professionals in Cuba, the article reveals the challenges and opportunities posed by predictive genomic medicine in relation to the dynamic and shifting terrain of public health.

The relationship among genetic technologies, biosocial identity and patient subjectivity has been the focus of an increasing range of social science literature. Examining mainly European and North American contexts this work has demonstrated the variable configurations of genetic knowledge-practices and the diverse implications for at-risk individuals and populations. This article brings together ethnographic research on genomic medicine, public health and breast cancer in Cuba, Greece and Germany. Although each case study addresses different publics/patients, institutional settings and risk-related practices, they all critically examine 'neoliberal' subjectivity and BRCA patienthood, at the intersection of political rationalities, medical discourses, social conditions and moral codes. In the Cuban case, cultural articulations of inherited and other embodied risks relating to breast cancer are analysed in relation to state provision of 'community genetics', and the shifting dynamics of public health in response to global social processes. The Greek case explores how culturally embedded values, notions of inherited risk and care inform or are re-articulated through institutional practices and ambivalent subject positions, at the meeting point between individualised medicine, religious philanthropy and the particularities of public health. In the German context, diverging patient subjectivities are examined against the background of prevailing social discourses and institutionalised risk management practices that promote proactive individuality. Drawing on deconstructive and feminist analyses, these case studies reveal how normative 'neoliberal' patient subjects are only 'partially reproduced' in situated contexts, neither stable nor homogeneous, as different actors and publics variously articulate, embrace or engage with transnational as well as culturally embedded discourses and health practices.

Building on social science research examining the relationship between genetic knowledge, identity and the family this paper takes the cultural context of Cuba as a site for critical ethnographic engagement. The paper makes use of research working with a range of Cuban publics and genetic professionals as part of a collaborative research project exploring the social and cultural context of health beliefs about breast cancer. It illuminates the contrasting ways in which genomic knowledge linked to an increased risk of breast cancer is perceived, communicated, and acted upon. It is argued that the particular meaning and significance of genetic risk linked to breast cancer in this context must be examined in relation to long standing institutional practices relating to public health care provision. The focus on ‘the family’ in the provision of Cuban health provides a particularly viable foundation for the expansion of what is described as ‘community genetics’, including the collation of family history details for common complex diseases such as breast cancer. Nevertheless specific public perceptions of risk related to breast cancer and the difficulties of discussing a diagnosis of cancer openly in the family point to the very specific challenges for the translation and application of predictive interventions in Cuba. In summary the dynamic interrelationship between public health, perceptions of risk or health beliefs about the causes of the disease and attitudes towards cancer diagnosis within the family point to both continuities and discontinuities in the way that genomic interventions linked to breast cancer are unfolding as part of a dynamic yet still ostensibly socialist project of health care in Cuba.

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