ABSTRACT
On 17-19 May 2006, the World Health Organization (WHO) and the March of Dimes Birth Defects Foundation held a meeting in Geneva: The Management of Birth Defects and Haemoglobin Disorders. Meeting participants included 18 experts from developing and industrialized countries, including the author and nine staff from WHO Headquarters. The meeting had five goals: (A) ratify the data on the global toll of birth defects presented in the MOD Global Report; (B) agree upon a definition of terms; (C) develop a collaborative plan for strengthening care and prevention of birth defects; (D) develop a plan for strengthening care and prevention of haemoglobin disorders; and (E) determine how potential stakeholders could contribute to these efforts. The consensus for each of the goals were: a) Participants endorsed the estimates in the MOD Global Report, b) Participants concluded that the term "birth defect" is synonymous with the term "congenital disorder", whereas the term "congenital anomalies" should be avoided, c) Participants agreed that 70 percent of birth defects could be prevented, ameliorated or treated effectively, by the strengthening of medical genetic services, d) Participants agreed that efforts must be made to improve the control of hemoglobin disorders in developing countries, and e) Progress will require the combined efforts and political will of the WHO.
Subject(s)
Humans , Congenital Abnormalities/prevention & control , Delivery of Health Care/organization & administration , Genetic Services/organization & administration , Health Services Needs and Demand , Hemoglobinopathies/prevention & control , Global Health , Developed Countries , Developing Countries , Foundations , Health Promotion , Public Policy , Reproductive Medicine , World Health OrganizationABSTRACT
O impacto dos defeitos congênitos no Brasil vem aumentando, apontando para a necessidade de estratégias específicas na política de saúde. Apesar da íntima ligação da genética clínica com a atenção aos defeitos congênitos, menos de 30 por cento da demanda vem sendo absorvida pelos serviços do país. São problemas na atenção aos defeitos congênitos: dificuldades de acesso aos serviços de genética com concentração destes no Sul/Sudeste e suporte laboratorial insuficiente. Para melhor abordagem aos defeitos congênitos, ações para o estabelecimento de política em genética clínica deveriam ser deflagradas, preferencialmente sob coordenação de grupo técnico vinculado ao Ministério da Saúde, tendo como objetivo organizar rede clínico-laboratorial na especialidade. Ações visando à otimização de recursos e ao aumento da cobertura deverão ser consideradas. Para suporte laboratorial são prementes arranjos visando o fluxo de exames e criação de mecanismos de financiamento. Ações complementares de prevenção e registro epidemiológico dos defeitos congênitos, educação médica e do usuário são recomendadas. Com tais propostas contempladas, será possível a estruturação de uma rede regionalizada, hierarquizada e funcional, além de mais justa e mais democrática, voltada à atenção aos defeitos congênitos no Brasil.
The impact of birth defects in Brazil has increased steadily, indicating the need for specific health policy strategies. Despite the close relationship between clinical genetics and management of birth defects, less than 30 percent of the total demand is currently met by existing genetic services. The main problems are: difficult access to genetic services, services highly concentrated in the South and Southeast regions of the country, and insufficient laboratory support. With the aim of improving management of birth defects, a specific national policy coordinated by the Ministry of Health needs to be developed. The main goal of such a policy should be the organization of a functional integrated genetics network, in addition to rational use of resources and enhanced coverage. In order to formalize a national laboratory network, sample shipping and billing mechanisms must be created. Birth defect prevention, education for the medical community and general population, and solid epidemiological data collection are strongly recommended as complementary measures. If such recommendations are implemented, it could be possible to organize a network for management of birth defects in Brazil that is regionalized, hierarchical, functional, and democratic as well.
Subject(s)
Female , Pregnancy , Humans , Congenital Abnormalities , Primary Health Care/organization & administration , Risk Management , Prenatal Care/organization & administration , Genetic Services/organization & administration , BrazilABSTRACT
OBJETIVO: Caracterizar los servicios de genética médica de Argentina, con el propósito de contribuir a la organización de una red que coordine la actividad asistencial, disminuya la inequidad en el acceso y promueva el desarrollo integral de la genética médica en el país. MÉTODOS: Se realizó un padrón (abril-agosto de 2004) de los servicios de genética médica de Argentina, por medio de una encuesta sobre recursos humanos, procedimientos diagnósticos, utilización de servicios y financiamiento. El criterio de inclusión fue que los servicios realizaran asesoramiento genético o pruebas diagnósticas citogenéticas, de biología molecular o bioquímicas para la detección de defectos congénitos o enfermedades genéticas. No se consideraron los centros dedicados exclusivamente a la investigación. RESULTADOS: Cumplieron el criterio de inclusión 134 servicios. De ellos, 84 eran servicios privados y los demás 50 eran servicios públicos en universidades y hospitales. Trabajaban en los servicios públicos un total de 67 médicos con formación en genética y 133 profesionales de laboratorio. La mayor parte de los servicios realizaban diagnóstico clínico y citogenético, con un menor desarrollo del diagnóstico molecular, bioquímico y prenatal. La región Centro tuvo más de 70 por ciento de los servicios y de los recursos humanos. En 10 de 23 provincias no se identificaron servicios de gestión pública, los cuales se concentran más bien en las grandes ciudades. CONCLUSIONES: Los servicios existentes muestran una notable heterogeneidad en su distribución geográfica y amplia variabilidad en cuanto a los procedimientos de diagnóstico ofrecidos. La distribución desigual de los servicios es un problema de organización que requiere la aplicación de políticas que garanticen las prestaciones mínimas para la población de todas las regiones del país, así como el acceso a procedimientos diagnósticos de mayor complejidad.