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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. ; 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 ...

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.

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.

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.

This special issue of <i>Community Genetics</i> 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.

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.

Latin America is a region of medium-to-low income countries with health indicators in transition towards patterns seen in developed countries, with growing importance of birth defects and genetic disorders as causes of morbidity and mortality. Over the past 20 years, tertiary-care-based genetic services have been developing in urban areas, although their population impact is still very low. Cuba is an exception, as genetic services were conceived from the beginning as primary-care-based and with specific community health objectives. Clinical geneticists in the region have recently began a trend towards extending genetic services to the community, with lukewarm support from state public health officials.

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.