Manual de normas y procedimientos servicios de genética médica en Cuba 2017

El manual de normas y procedimientos. Servicios médica en Cuba, tiene el propósito de constituirse en el documento metodológico rector para la organización y funcionalmente de lo servicios de genética médica en el país. Es una herramienta en el trabajo diario de los profesionales y técnicos que laboran en función de la promoción-prevención de las enfermedades genéticas y los defectos congénitos como parte del Sistema Nacional de Salud.

Perfeccionamiento de los servicios genéticos a gestantes y recién nacidos mediante la Red Informatizada de Salud SALGEN / Improvement genetics services to pregnant women and newborn by health informatic network SALGEN

La red informatizada de salud SALGEN se utiliza desde el 2009 en la atención genética a la gestante y el recién nacido en la provincia de Sancti Spíritus, insertada en las facilidades de conexión en tiempo real entre todas las instituciones de salud que brinda INFOMED. Se han atendido 34 452 gestantes hasta septiembre 2015, realizando evaluación de riesgo genético, pesquisa de anemia de hematíes falciformes, dosificación de alfafetoproteína, diagnóstico prenatal citogenético, ultrasonido de cada trimestre, características del parto y del recién nacido, pesquisas metabólicas neonatales y evaluación genético clínica del lactante. El software brinda160 reportes que han permitido evaluar la calidad de todos los procederes del programa de la atención genética a gestantes y recién nacidos y otras acciones organizativas del programa de atención materno infantil además de indicadores evaluativos para ecografía prenatal de acuerdo a estándares internacionales que son visualizados online por los especialistas como forma de autoevaluación. Los resultados validan al sistema informático para su utilización a nivel de cualquier policlínico, municipio o provincia del país. Este trabajo tiene por objetivo evidenciar la utilidad de SALGEN en el perfeccionamiento de la atención genética a gestantes y recién nacidos y en el control de calidad de acciones del Programa de Atención Materno Infantil (PAMI)(AU)

The Sancti Spíritus Provincial Medical Genetics Network has been using the Salgen informatics platform since 2009 for health care, administrative and research activities oconcerning pregnant mothers and newborns. The network uses the national Infomed backbone to provide real-time connection between community-based polyclinics in primary health care and the Provincial Medical Genetics Reference Center. Until September 2015 the platform has recorded 34 452 pregnant women and sequential clinical data on genetic risk assessment in early pregnancy, prenatal ultrasound, sickle cell anemia screening, alpha-fetoprotein levels, cytogenetic antenatal diagnosis, delivery and newborn characteristics, neonatal metabolic screening, and infant clinical assessment. The system makes health care results immediately available and provides 160 health alerts to enable timely preventive care for pregnant women. It also provides guidelines for processes and practices, and streamlines administrative and monitoring activities through statistical reports. The database generates indicators for assessing fetal growth and applies international standards for antenatal ultrasound quality control. Salgen can be use in any institution of primary health services, municipality or provinces of Cuba(AU)

Medical genetics services in the city of Sao Paulo, Brazil.

The city of Sao Paulo is located in the center of a metropolitan area with nearly 18 million inhabitants and 300,000 births/year. The currently existing medical genetics services are unable to meet the demand, due to their insufficient physical and personnel infrastructure. Institutions and experts in medical genetics could give short training and refresher courses to health professionals to enable them to work in the public health network. The city has a reasonably well developed health care network, represented by the Single Health System (Sistema Unico de Saude - SUS) and by the Family Health Program (Programa de Saude da Familia - PSF). The financial resources for such actions originate in the budget of the managing agencies of such systems. The limitations of genetic services provided to the population of the city could be overcome in a short period of time by developing programs within the public health care network. The city has institutions, professionals and financial resources to make this project feasible. To that end, the competent authorities of the Sao Paulo State and City Secretariats of Health should take managerial responsibility for the genetic services in the city.

Medical genetic services in the state of Rio de Janeiro, Brazil.

Rio de Janeiro is a state with close to 15 million inhabitants and approximately 250,000 births per year. The state counts nine clinical genetic units in public institutions, providing for 9,400 outpatient consultations yearly, which is insufficient to cover the estimated needs. Laboratory tests such as cytogenetics, inborn errors of metabolism and molecular studies are available on a limited basis. Newborn screening in the public health system is being performed for phenylketonuria, congenital hypothyroidism and sickle cell disease. In the state there are also special treatment programs for osteogenesis imperfecta and Gaucher's disease, subsidized by the Brazilian Ministry of Health. Presently, efforts of medical geneticists are concentrated on highlighting the practical relevance of clinical genetics, and the need to integrate the specialty into the public health system in a functional network of genetic services.

Genetic services and research in the state of Minas Gerais, Brazil.

The state of Minas Gerais in Brazil has a surface of 586,528 km(2), and 18 million inhabitants. Infant mortality rate is 20/1,000, and congenital anomalies are its second cause. There are 11 medical schools where basic genetics, but not clinical genetics, is taught. Genetic services in the state include: newborn screening for hypothyroidism, phenylketonuria, sickle cell disease and cystic fibrosis; clinical-genetic diagnostic evaluation and counseling; prenatal diagnosis, fetal medicine and paternity testing. Medical genetic services and research are underdeveloped because of limitations such as lack of health policies in genetics, small number of trained specialists, little knowledge about genetics among health professionals and low reimbursement rates.

Genetic services in Chile.

Demographic changes in Chile have positioned congenital malformations as a major cause of infant morbidity and mortality. At the same time, medical genetics has become increasingly important in relation to the diagnosis and management of individuals with birth defects and hereditary conditions as well as in the study of pathological pregnancies and reproductive problems. In addition, recent advances in genomic research are expanding the relevance of medical genetics to medicine as a whole. This article reviews the clinical genetic resources currently available in Chile; the teaching of genetics in undergraduate, graduate, and continued medical education; some relevant interventions that have taken place in our country, e.g. the expansion of the newborn screening program and the initiation of a folic acid fortification program, and recent efforts to enhance population access to clinical genetics services.

Genetic services in Colombia.

Medical genetic services, including clinical genetics, cytogenetics, biochemical and molecular genetics and paternity testing, are performed in Colombia in the more developed medical schools or university institutions, in nine major cities of the country. Accessibility to genetic services is limited by medical care reimbursement laws which do not cover clinical genetic services nor genetic tests. Paternity testing is performed free of charge by a governmental welfare institution, if a legal claim is made against an alleged father. Basic teaching of genetics in medical schools is mandatory, but is very uneven and limited to the better schools. Postgraduate medical genetic training is offered by four different programs of similar quality. Research is performed on some of the most prevalent genetic conditions and on population genetic issues.

Community-based program for the diagnosis and prevention of genetic disorders in Cuba. Twenty years of experience.

The author's experience of 20 years as director of the medical genetic services program in Cuba is presented. The setting of the infrastructure for equipment and the training of personnel for the medical genetic program began in 1981 in the city of Havana, and was progressively extended to cover the whole country in 1988. Between 1982 and 2002, 2.8 million pregnant women were tested for sickle cell carrier status, 96,000 carriers and 4,786 couples at risk were detected and offered genetic counseling and prenatal diagnosis. In the same period, the combination of maternal serum alpha-fetoprotein screening and fetal ultrasound led to the prenatal diagnosis of anomalies in several thousand fetuses. The accessibility to legal abortion, and the autonomous decisions by the majority of couples to terminate abnormal pregnancies reduced the prevalence of neural tube defects and sickle cell disease at birth by 90 and 65%, respectively, by 2002. In the span of approximately 20 years, 22,690 pregnant women at risk received prenatal chromosomal diagnosis. Newborn screening for phenylketonuria and congenital hypothyroidism was established. Genetic counseling was offered to every detected person or family at risk for genetic conditions. The network of medical genetic services established in the country received a very positive acceptance by the population. A very successful connection with the primary health care level was established.

Genetic services in Ecuador.

Ecuador has a population of 12 million inhabitants, composed of a variety of ethnic groups. The majority of the population lives in rural areas. There is a severe deficiency in health services, and most diseases are associated with poor life conditions: malnutrition, parasitic diseases and infections. At the same time, however, chronic diseases, e.g. cancer, have increased in prevalence. Most genetic services are provided by the private sector, which offers clinical genetic consultations and counseling, cytogenetic analyses, a limited number of molecular and biomedical tests, and prenatal diagnosis. Genetic research is centered in the universities of important cities (Quito, Guayaquil and Cuenca). The government sponsors some university research projects but does not conduct health actions in genetics in the community. There is an incipient interest in ethic and legal issues in genetics, such as how to provide modern genomic medicine in a resource-poor country.

Genetic services in Mexico City.

In the year 2002, the population of Mexico was approaching 103 million inhabitants. Approximately 74% of them live in the cities with a continuous migration from rural to urban areas. Genetic departments are concentrated in the capital and other big cities. In this paper we review the current status of genetic departments in Mexico City, emphasizing the main areas of genetic services offered to the public and involved in research. We also comment on the deficiencies identified and suggest recommendations to improve the quality of the genetic services offered to the Mexican population.

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.