Nuevos problemas de un nuevo sistema de salud: la creación de una política pública nacional de atención de enfermedades raras en Brasil (1990-2014) / New problems of a new health system: the creation of a national public policy of rare diseases care in Brazil (1990s-2010s)

RESUMEN En este trabajo se analizan los movimientos de actores e instituciones que llevaron a la promulgación, en 2014, de la Resolución 199 del Ministerio de Salud de Brasil, que establece la Política Nacional de Atención Integral a las Personas con Enfermedades Raras. Tomando como fuentes los principales periódicos, proyectos de ley y bibliografía secundaria sobre el tema, comenzamos nuestro análisis a principios de la década de 1990 con la creación de las primeras asociaciones de pacientes en Brasil, para reclamar fundamentalmente más fondos para la investigación de enfermedades genéticas, y llegamos a fines de la década de 2010 con las negociaciones para una política nacional. La Resolución 199 es parte de un proceso en curso, en el que el camino hacia la promulgación y las complicaciones posteriores nos dan elementos para discutir aspectos actuales de la salud pública brasileña. Sobre la base de la historia del tiempo presente y los estudios sociales de la ciencia, argumentamos que hay dos aspectos que han sido fundamentales para crear una política nacional: enmarcar diferentes enfermedades en la terminología "enfermedades raras" y la construcción de una percepción pública sobre el derecho a la salud, que se garantiza en la Constitución brasileña de 1988.

ABSTRACT This study discusses actors and institution movements leading to the disclosure in 2014 of Resolution 199 by the Brazilian Ministry of Health, which establishes the National Policy for the Comprehensive Care of Persons with Rare Diseases. Taking as sources the mainstream newspapers, drafts law, and secondary literature on the subject, we begin our analysis in the early 1990s when the first patient associations were created in Brazil - mainly for claiming more funds for research on genetic diseases - and arrive at the late 2010s when negotiations for a national policy are taking place in the National Congress. Resolution 199 is part of an ongoing process and the path towards its disclosure and the complications that followed have given us elements to discuss contemporary aspects of the Brazilian public health. Based on the references of the history of the present time and the social studies of science, we argue that two aspects have been fundamental to creating a national policy: framing different illnesses within the terminology "rare diseases" and the construction of a public perception about the right of health which is guaranteed by the 1988 Brazilian Constitution.

Biomedical knowledge in Mexico during the Cold War and its impact in pictorial representations of Homo sapiens and racial hierarchies / Conhecimento biomédico no México durante a Guerra Fria e seu impacto nas representações visuais de Homo sapiens e hierarquias raciais

Abstract This paper provides an overview of the state of Mexican genetics and biomedical knowledge during the second half of the twentieth century, as well as its impact on the visual representation of human groups and racial hierarchies, based on social studies of scientific imaging and visualization (SIV) and theoretical concepts and methods. It also addresses the genealogy and shifts of the concept of race and racialization of Mexican bodies, concluding with the novel visual culture that resulted from genetic knowledge merged with the racist phenomenon in the second half of the twentieth century in Mexico.

Resumo Este artigo traça um panorama do estado da genética e do conhecimento biomédico no México durante a segunda metade do século XX, assim como seu impacto na representação visual de grupos humanos e hierarquias raciais, baseado em estudos sociais da imagem e visualização cientifica e de seus métodos e conceitos teóricos. Também aborda a genealogia e as mudanças nos conceitos de raça e racismo nos corpos mexicanos, que resultaram na nova cultura visual fruto do conhecimento genético, interligando-se ao fenômeno do racismo na segunda metade do século XX no México.

Clinical genetics and public policies: how should rare diseases be managed?

The implementation of a specific policy for rare diseases in the Brazilian Unified Health System presents challenges in terms of its rationale. Recognizing the importance of rarity in the context of public health means understanding genetics as one of the dimensions of disease and accepting that Brazil is undergoing a period of transition in health indicators. Although most rare diseases lack pharmacological treatment and genetic counseling constitutes the best strategy for their prevention, the cost of "orphan drugs" and their consequent lack of cost-effectiveness are still claimed as hurdles to the implementation of public policies in this field. Epidemiological aspects should not be used as isolated criteria for prioritization in public policies

Genetics and bioethics: the current state of affairs. Genetica y Bioetica: estado de la cuestión

En orden a ayudar a integrar la Bioetica global con la genética, las ciencias y un amplio rango de las disciplinas, es necesario apuntar a tópicos comunes entre ellas. En el conjunto de nociones expresadas por la Bioetica global están implicadas una variedad de comunidades; no poca gente está dispuesta a invocar un futuro sustentable…diferentes comunidades tendrán sus propias maneras de denominarlas y aplicarlas.

In order to help to integrate(repay) the global Bioetics with the genetics, the sciences and a wide range of the disciplines, it is necessary to point at common topics among them. In the set of notions expressed by the global Bioetics they are involved a variety of communities; not few people are ready to invoke a future sustentable … different communities will have his own ways of naming them and apply them.

Qué hay de inmoral en modificar la naturaleza humana? / What is of immorally in modifying the human nature?

A la vista de las expectativas suscitadas por los recientes avances de las ciencias biomédicas, no hemos especulado con la posibilidad de modificar algún aspecto de nuestra condición física, psicológica e incluso moral?? Y es que poco a poco esos avances han dejado de ser sólo temas de inspiración de escritores de ciencia ficción para convertirse en aspiraciones razonables; de ahí que la historia de la biología molecular que lo que es inimaginable rápidamente se convierte en rutinario (Kitcher, 1996: 122). Por eso hemos empezado a considerar seriamente la posibilidad de subvertir el supuesto e inapelable destino genético, curar lo incurable.

Mendelism in human genetics: 100 years on.

Genetics (Greek word--'genes' = born) is a science without an objective past. But the genre of genetics was always roaming in the corridors of human psyche since antiquity. The account of heritable deformities in human often appears in myths and legends. Ancient Hindu Caste system was based on the assumption that both desirable and undesirable traits are passed from generation to generation. In Babylonia 60 birth defects were listed on Clay tablets written around 5,000 year ago. The Jewish Talmud contains accurate description of the inheritance of haemophilia--a human genetic disorder. The Upanisads vedant--800--200 BC provides instructions for the choice of a wife emphasizing that no heritable illness should be present and that the family should show evidence of good character for several preceding generations. These examples indicate that heritable human traits played a significant role in social customs are presented in this article.

Historia de la genética latinoamericana en el siglo XX / The history of genetics in Latin American countries during the twentieth century

The aim of this historical review is to evaluate the evolution of genetics in the context of Latin American scientific culture, to value foreign influences and to highlight the discoveries and contributions of Latin American geneticists. During the first third of the twentieth century, local naturalists, botanists and physicians understood the chromosomal theory of heredity and Mendelian theory of evolution and begun research and teaching on these new theories and technologies. During the thirties and forties, North American geneticists visited South America and formed development poles on cytogenetics and population genetics in Brazil and Argentina. During the fifties and sixties, human genetics was formally established in Brazil, Argentina and Chile. Genetics teaching became generalized in universities and national Genetics Societies were formed. In 1969, the Latin American Genetics Society was created, unifying the efforts of zoologists, botanists, physicians and anthropologists in an unique Latin American cultural space, organizing 11 meetings between 1972 and 1994. Latin Americans have made a great contribution in genome discovery of animal, vegetable and human species in their territory. They explored the great genetic diversity of the continent, discovering new genes and diseases. The biomedical area had the greatest development. In 1997, there were 130 medical genetics centers, 120 hospitals specialized in congenital malformations, 56 molecular biology centers and 26 molecular genetics centers. At the end of the twentieth century, human genetics is completely integrated to medical sciences in Latin America

Situación de los servicios de genética en Chile / Status of genetic services in Chile

Due to the demographic changes in Chile, where preventable causes of death are being controlled and congenital malformations arise as an important cause of morbidity and mortality during infancy, of pathological pregnancies and reproductive alterationns, medical genetics is becoming increasingly importtant. Using data from an inquiry that was answered by thirteen medical genetic centers in the country, this article reviews the history of the discipline in Chile, the available resources, the existent services, the main problems found and their eventual solutions genetics teaching and the research that is being conducted

A genetica como especialidade medica / Genetics as a medical speciality

Apesar de ter suas bases nas leis de Mendel postuladas ja na metade do seculo passado, a genetica se estabeleceu de fato como disciplina independente apenas no seculo XX. Este artigo revisa a evolucao da genetica como especialidade medica, o impacto das doencas geneticas na saude humana e o potencial de prevencao e tratamento destas desordens. E tambem abordada a revolucao trazida pelas tecnicas de biologia molecular, que estao transformando a genetica em uma ferramenta importante para a maioria das demais especialidades. Varios termos da genetica moderna que estao se tornando comuns na literatura medica geral sao particulamente considerados. Alguns topicos polemicos, como o impacto da genetica moderna para a abordagem das doencas comuns como cancer, os desdobramentos do "Projeto Genoma Humano" e as promessas da terapia genica completam a revisao, que pretende deixar o leitor ao par da realidade e das perspectivas da genetica medica neste final de seculo