Genetic testing to restore the human right to identity in post-dictatorship Argentina: Ethical, legal, and social issues.

The last military dictatorship in Argentina (1976-1983), committed egregious violations of human rights, including torture assassinations and disappearance of 30,000 political dissidents as well as friends and relatives. This included hundreds of pregnant women who were kept in clandestine detention centers and killed after delivering their babies in abject conditions. The succeeding democratic governments applied forensic genetics at the Banco Nacional de Datos Genéticos to identify the estimated 500 children stolen at birth and being reared by military families with suppression of their identity. The first genetic identification was in 1984 of a 6 years old, while the latest was in 2019 of a 44 years old, completing so far 130 identifications along 35 years of post-dictatorship. The ethical, legal, and psycho-social complexities of restoration of genetic identity after years of appropriation and suppression of identity in the Argentine context, is discussed at length. Evidence indicates that after initial psychological distress, most individuals that had their true genetic identity restored experienced relief by learning the truth and reuniting with their biological families. Many "recovered grandchildren" are socially and politically involved in progressive causes and express pride for the social activism of their disappeared parents. The role played by genetics in support of the right to identity in Argentina has set an example of social responsibility of science in defense of human rights.

[Reflections of a geneticist on the influence of genes in psychiatric disorders]. / Reflexiones de un genetista sobre la influencia de los genes en los trastornos psiquiátricos.

The nature and causes of psychiatric disorders are controversial and subject to debate, with theories changing according to historical, scientific, political, social and cultural contexts. In the past, hereditarian hypotheses stumbled in front of the lack of knowledge of genetics, the complexity of genetic-environmental interactions and the controversies of phenotypic definitions, still unresolved. The burst of genomics gave hopes to those who believe that the causes of psychiatric disorders is in the genes and who, armed with DNA sequencers and bioinformatics, began comparing genomic sequences among patients and controls, looking for associations with diverse phenotypes which remain inadequately defined. Given that all human characteristics are influenced by genes, the predictable is happening: an endless stream of associations with hundreds of genes, albeit with few causal clues. All human characteristics are also influenced by environmental/social factors, which explain even more of the phenotypic variance of psychiatric conditions. Given that methods for the study of those, and their interaction with the genome, are not as advanced as genomics, the understanding of causalities of mental disorders is in a labyrinth, from which it will only emerge with new approaches to genetic-environmental interactions that go beyond epigenomics and focus on not necessarily chemically measurable influences.

Genetics and human rights. Two histories: Restoring genetic identity after forced disappearance and identity suppression in Argentina and after compulsory isolation for leprosy in Brazil.

Over the past three decades, there has been an accelerated development of genetic technology, leading to its use in human genetic identification for many purposes. Additionally, it has been made explicit that identity is a fundamental human right. A number of historical circumstances have connected these developments. Personal identity is increasingly associated with the preservation and defense of human rights and is a tool to repair the violation of these rights, particularly the right to identity. In this article, we report the use of genetics to support the right to identity in two historical circumstances. First, we report the search, localization, DNA testing and genetic identification of 110 individuals who were appropriated as babies by the Argentine military dictatorship of 1976-1983 in the context of savage repression and egregious violations of human rights, including forced disappearance and suppression of identity. Second, we report on the repair of right-to-identity violations of hundreds of individuals that occurred during the process of compulsory isolation of patients with leprosy in Brazil through the Program "Reencontro", which has led to the genetic identification of 158 pairs of individuals who previously did not have proof that they were siblings. The high value placed on genetic identification by victims of identity suppression did not counter the prevailing view that genetic factors were not more important than other factors (social, emotional, educational, cultural, spiritual) in determining the complex phenomenon of personal identity. The use of genetic identification as a tool to redress and repair human rights violations is a novel application of human genetics for the benefit of mankind.

A tribute to josé maría ("chema") cantú.

José María ("Chema") Cantú (1938-2007), born in Mexico, was a pioneering, loved and respected leader in medical and human genetics and bioethics in Latin America. He graduated as a physician in Mexico and then trained in medical and human genetics in France and the United States. He was instrumental in developing a first-rate research, training and genetic services program in medical and human genetics in Guadalajara, in northwestern Mexico. He acted forcefully at national, regional and international levels to promote scientific development through collaboration and education in science and humanities, while he simultaneously strived for justice, peace, love and human rights. He attained some of the highest honors a scientist and humanist could aspire to as well as the recognition of the communities he served. Hundreds of disciples throughout Latin America and the world have been inspired by his vision of a better world through the conjunction of science, respect for humankind, ethics and love.

Ética de la edición genética en seres humanos

Propósito/Contexto. Este artículo analiza aspectos éticos de la edición genética en seres humanos. Metodología/Enfoque. Se describe el desarrollo de las principales aplicaciones de la tecnología genética en prevención, diagnóstico y terapéutica de enfermedades genéticas en las últimas décadas, culminando con la edición genética. Resultados/Hallazgos. Se definen los principales aspectos éticos que presenta la edición genética somática y germinal en seres humanos, incluyendo cuestiones de seguridad, especificidad, precisión y certeza. Se critica la edición genética germinal y el concepto de "mejoramiento" humano por vulnerar la autonomía individual, generar cambios genéticos heredables en la progenie y aceptar la falacia del reduccionismo genético de que los rasgos de las personas dependen exclusivamente de la constitución genética, independiente del ambiente. Discusión/Conclusiones/Contribuciones. La edición genética somática puede ser ética si se siguen las normas éticas de la investigación biomédica. Por el contrario, la edición genética germinal no es pertinente ni necesaria para el tratamiento de enfermedades genéticas y presenta graves conflictos éticos, por lo cual, previo a su aplicación es necesario un consenso social por discusiones democráticas, amplias y profundas entre todos los actores sociales involucrados, seguido de mecanismos de gobernanza con regulación robusta por parte del estado, que impidan la vulneración de derechos humanos fundamentales.

Purpose/Context. This article discusses ethical aspects of gene editing in humans. Methodology/Approach. The main applications of genetic technology in the prevention, diagnosis and therapeutics of genetic diseases in recent decades, are described, culminating with genetic editing. Results/Findings. The main ethical aspects of somatic and germline gene editing in humans are discussed, including issues of safety, specificity, precision and certainty. Germline genetic editing and human "enhancement" are criticized for violating individual autonomy, for generating heritable genetic changes in the progeny and for accepting the fallacy of genetic reductionism that people's traits depend exclusively on genetic makeup, independent of the environment. Discussion/Conclusions/Contributions. Somatic gene editing can be ethical if the ethical standards of biomedical research are followed. However, germline genetic editing is not relevant nor necessary for the treatment of genetic diseases and, furthermore, it presents serious ethical conflicts. Therefore, prior to its application, a social consensus is necessary, obtained by democratic, broad and profound discussions among all the social players involved, followed by governance mechanisms with robust regulation by the state, which prevent the violation of fundamental human rights.

Finalidade/Contexto. Este artigo discute aspectos éticos da edição de genes em humanos. Metodologia/Aproximação. Descreve o desenvolvimento das principais aplicações da tecnologia genética na prevenção, diagnóstico e terapia de doenças genéticas nas últimas décadas, culminando com a edição de genes. Resultados/Descobertas. São definidos os principais aspectos éticos da edição de genes somáticos e da linha germinal no ser humano, incluindo questões de segurança, especificidade, precisão e exactidão. A edição genética da Germline e o conceito de "melhoramento" humano são criticados por violarem a autonomia individual, gerando alterações genéticas hereditárias nos descendentes e aceitando a falácia do reducionismo genético de que as características das pessoas dependem exclusivamente da sua constituição genética, independente do ambiente. Discussão/Conclusões/Contribuições. A edição somática de genes pode ser ética se os padrões éticos da investigação biomédica forem seguidos. Pelo contrário, a edição genética na linha germinal não é relevante nem necessária para o tratamento de doenças genéticas e apresenta graves conflitos éticos. Por conseguinte, antes da sua aplicação, é necessário um consenso social através de discussões democráticas, amplas e profundas entre todos os actores sociais envolvidos, seguidas de mecanismos de governação com regulação robusta por parte do Estado, que impeçam a violação dos direitos humanos fundamentais.

Ethical issues in genetics and public health in Latin America with a focus on Argentina.

This paper reviews the health situation and developments in medical genetics and bioethics in Latin America, with a focus on Argentina. The region is the most inequitable in the world, with an average Gini Index of 52.5 and 25 % of the population living in poverty. Health expenditures are low and health systems are fragmented and privatised, with curtailed governmental responsibility and regulation. Health-care decision making is mostly in the hands of private insurance corporations and the medical-industrial complex, so that what is (or is not) covered by health plans is arbitrary and determined by the market and not by population health needs. This inequity and the lack of meaningful governmental intervention in the provision of health care, including genetic services, are at the heart of the bioethical dilemmas in Latin America. It is not surprising, therefore, that bioethics in the region has developed an approach grounded in social justice, equity and human rights as guiding principles, in contrast to the individualism espoused by Anglo-Saxon bioethics. The main ethical issues identified in genetics in Latin America are (1) inequity in access to genetic services, particularly in prenatal diagnosis, (2) genetic discrimination and (3) the lack of adherence to internationally accepted requisites of clinical validity and utility for diagnostic and predictive genetic testing. In this context, there is a risk that the impressive advances in genetics/genomics occurring in developed countries may fail to improve the public's health and deepen inequity, with the implementation of expensive genetic technologies of unproven validity.

Ethical, legal and social issues in restoring genetic identity after forced disappearance and suppression of identity in Argentina.

Human genetic identification has been increasingly associated with the preservation, defence and reparation of human rights, in particular the right to genetic identity. The Argentinian military dictatorship of 1976-1983 engaged in a savage repression and egregious violations of human rights, including forced disappearance, torture, assassination and appropriation of children of the disappeared with suppression of their identity. The ethical, legal and social nuances in the use of forensic genetics to support the right to identity in Argentina included issues such as the best interest of children being raised by criminals, the right to learn the truth of one's origin and identity, rights of their biological families, the issue of voluntary versus compulsory testing of victims, as well as the duty of the state to investigate crimes against humanity, punish perpetrators and provide justice and reparation to the victims. In the 30 years following the return to democracy in 1984, the search, localization and DNA testing of disappeared children and young adults has led, so far, to the genetic identification of 116 persons who had been abducted as babies. The high value placed on DNA testing to identify victims of identity suppression did not conflict with the social consensus that personal identity is a complex and dynamic concept, attained by the interaction of genetics with historical, social, emotional, educational, cultural and other important environmental factors. The use of genetic identification as a tool to redress and repair human rights violations is a novel application of human genetics within a developing set of ethical and political circumstances.

Genetic testing and services in Argentina.

Argentina is a middle-income country with a population of 40 million people. The structure of morbidity and mortality approaches that of more developed nations, with congenital and genetic disorders contributing significantly to ill health. The health delivery system is mixed, with public, social security, and private sectors which together spend close to 10 % of the GNP. Health subsectors are decentralized at provincial and municipality levels, where health planning and financing occurs, leading to fragmentation, inefficiency, and inequities. There are about 41 clinical genetic units in major medical centers in large cities, staffed by about 120 clinical geneticists, although only a few units are fully comprehensive genetic centers. Duplications, deficiencies, and poor regionalization and coordination affect health care delivery in general and in genetics. Funding for genetic services is limited due to poor understanding and lack of political will on the part of health authorities. Recently, however, there have been some interesting initiatives by national and provincial ministries of health to improve genetic services delivery by increasing coordination and regionalization. At the same time, training in genetics of health professionals is occurring, particularly in primary health care, and registries of congenital defects are being put in place. These developments are occurring in conjunction with a new awareness by health authorities of the importance of genetics in health care and research, a heightened activism of patient organizations demanding services for neglected conditions, as well as of women movements for the right to safe abortion.

Community genetics. Its definition 2010.

This paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the definition.

Genetic services in Latin America.

This special issue of Community Genetics reviews some of the most important developments in medical genetics in key countries of Latin America. Contributions to this issue were prepared for a special consultation of the World Health Organization held in Porto Alegre, Brazil, on June 19, 2003. Latin America is a region of medium- to low-income countries characterized by socioeconomic problems, with large segments of the population living in poverty and extreme disparities in the distribution of wealth. A rise in chronic diseases typical of the processes of industrialization and urbanization coexists with the persistence of nutritional and infectious diseases characteristic of poverty and underdevelopment. Over the last 2 decades of the 20th century, birth defects and genetic disorders have increased their share of morbidity and mortality, and tertiary-care-based genetic services have developed in urban areas. Although privatization of health care is eroding the public sector, the public institutions continue to be the main providers of genetic services for the bulk of the population and the leaders in research. The development of clinical genetics in the region is concentrated in tertiary-care centers in large cities, although a recent trend began extending genetic services to the community.

Preventing congenital anomalies in developing countries.

The birth prevalence of congenital anomalies in developing countries is similar to that observed in developed countries. However, the health impact of birth defects is higher because of a lack of adequate services for the care of affected infants and a higher rate of exposures to infections and malnutrition. A number of successful measures for the prevention of congenital anomalies are being taken in a number of developing nations. Primary prevention programs are based on public education about preconceptional and prenatal risks. Prevention based on reproduction options includes teratogen information services and prenatal screening for fetal anomalies. In addition, programs for the detection of congenital malformations at birth, followed by early treatment, are contributing to secondary prevention. Prevention of congenital anomalies in the developing world requires: (a) good epidemiological data on the prevalence and types of birth defects and genetic disorders; (b) educating health professionals in the goals and methods of preventing birth defects at low cost but with high impact, and (c) expansion of family planning and improvement of antenatal care combined with educational campaigns to avoid the risks for birth defects. The basis for public health preventive measures should be the primary health care level. In a sizable proportion of developing countries, the stage is already set for these measures to be implemented. Required are education, political will, and proper organization and allocation of resources.

Reproductive genetic testing from an international perspective: impact on women in underdeveloped countries.

The impact of reproductive genetic testing (preconceptional and prenatal screening for genetic diseases) on women in the third world must take into account the many aspects that characterize underdevelopment: poverty; little access to education; housing; adequate nutrition; health services, and other. In these countries women usually suffer from male domination in a number of aspects of their lives, including reproduction. Illiteracy is high, particularly among women. Infant mortality and fertility rates are high, and the primary causes of death are infectious diseases and malnutrition. Health services are poorly organized, and family planning and prenatal care programs are deficient. Although abortions are illegal, they outnumber live births 3:1. Maternal mortality is 10-100 times higher than in industrialized nations, and complications of illegal abortions are one of its main causes. This description applies to the majority of the population and contrasts with that of the small segment of well-to-do upper classes, who have access to education, housing and health services that include family planning, prenatal care and reproductive genetic testing. By and large, all main cities count with clinical genetic centers. The illegality of abortion, however, makes prenatal testing in the public sector a difficult task, while in the private sector quality control is an unheard concept and the patients frequently fall victims of the entrepreneurial and commercial goals of the providers. For the majority of the population, the impact of reproductive genetic testing is almost nil, simply because the services are not available.(ABSTRACT TRUNCATED AT 250 WORDS)

Community genetic services in Latin America and regional network of medical genetics. Recommendations of a World Health Organization consultation.

The World Health Organization sponsored a Consultation on Community Genetic Services and a Regional Network of Medical Genetics in Latin America in Porto Alegre, Brazil, on June 19, 2003. The main recommendations of the meeting included: (a) the call for government funding of services, research and education in medical genetics; (b) the conduct of epidemiological research on the prevalence and types of birth defects, genetic disorders and genetic predispositions to common diseases; (c) the education of health professionals in genetics; (d) the education of genetic professionals in community health and public health genetics; (e) the fostering of interactions between clinical geneticists, public health personnel, primary health care workers and community organizations, and (f) a better planning of regionalized services to avoid duplication and inefficiency.

Genética y salud publica / Genetics and public health

Con objeto de plantear la necesidad de acciones de salud pública en genética en América Latina, el autor hace una breve revisión de los defectos congénitos, en los que se incluyen las enfermedades hereditarias y las anomalías cromosómicas. Señala que estos defectos afectan por lo menos a 5 por ciento de los nacidos vivos en las diversas regiones del mundo, independientemente del estado de desarrollo o de la composición étnica de las poblaciones. En la región de las Américas, las malformaciones congénitas ocupan entre el segundo y el quinto lugar como causa de muerte de los menores de un año y contribuyen de 2 a 27 por ciento de la mortalidad infantil. Es de esperar que la situación relativa de estos trastornos adquiera cada vez más importancia a medida que mejoren los indicadores generales de la salud infantil, como ha sucedido en los países industrializados. El hecho de que los estados patológicos de origen genético afecten a múltiples órganos y sistemas, son de carácter crónico y requieren terapias y rehabilitación costosas, implica una demanda de servicios que los países deben prepararse para encarar. Se proponen tres objetivos generales para las actividades de salud en genética: minimizar las manifestaciones clínicas de los individuos que nacen con defectos congénitos mediante atención adecuada en todos los niveles de servicios; mejorar la calidad de vida de esos individuos y sus familias, ayudándolos a insertarse en la vida normal de las comunidades; y asegurar que las personas en alto riesgo de concebir hijos con enfermedades genéticas reciban asesoramiento y servicios de apoyo para que puedan ejercer el derecho a la reproducción de manera informada. Por último, se recomiendan ocho estrategias para iniciar programas de salud genética con los recursos disponibles en cada país

Establecimiento de servicios integrales de genética en los países en desarrollo : América Latina / Implementing comprehensive genetic services in developing countries : Latin America

En los países industrializados, el avance de los conocimientos de nuevas tecnologías se estan aplicando rápidamente a los servicios de diagnostico, tratamiento y prevención de enfermedades genéticas. Esos adelantos ofrecen, entre otras cosas, nuevos métodos de diagnóstico prenatal basados en la genética molecular. No obstante, los países en desarrollo todavía no se han beneficiado plenamente de esos avances por motivos que estan relacionados con el subdesarrollo sociopolítico y económico. En este artículo se analizan algunas de las razones que impiden el desarrollo racional y progresivo de los servicios de salud, en general, y de genética, en particular, en los países en desarrollo. Se concluye que esos países deben resolver las dificultades mencionadas creando estructuras de atencion de salud integrales, eficientes y coordinadas. Ello solo puede lograrse cuando se cuenta con decisiones políticas informadas y de alto nivel. Las enfermedades genéticas constituyen una prioridad, y el derecho de las personas a la salud debe incluir el derecho a disponer de servicios accesibles de prevención, curación y rehabilitación de las anomalías congénitas. La Región de las Américas tiene recursos suficientes para convertir ese derecho en realidad

Genetics and public health

Worldwide, genetic diseases affect no less that 5 percent of all newbornns. Most are caused by altered genes transmitted at conception, while a lesser share are due to chromosomal abnormalities- quantitative imbalances in the genetic material leading to various disorders including Down syndrome. The impact of these pathologies is especially severe because they are typically chronic, often affect more than one child in a family, and commonly demand expensive or inaccessible therapeutic methods. Current trends indicate that the demand for health services dealing with these and other congenital defects in Latin America will continue to grow, making it imperative that health plans include strategies for providing appropriate services. The steps called for in seeking to provide such services are as follows: (1) clearly define the aims of the genetic health program; (2) assess, organize, and distribute the available human and material resources; (3) plan and implement primary care activities designed to detect genetic risk factors, and see that these are integrated into all relevant programs (family planning, prenatal care, etc,); (4) organize a referral network for complex diagnostic studies, genetic counseling, treatment, and rehabilitation; (5) encourage close collaboration between health planners and medical geneticists on education and health activities; (6) provide genetic health training programs for primary health care personnel; (7) develop genetic health education programs for the general public; (8) adopt standardized procedures for supervising and evaluating these various activities and their results