Genetic evaluation as an itinerant strategic medical care towards impaired children and teenagers in the Brazilian Family Health Program

• Autor(a) principal: Vieira, Daniela Koeller Rodrigues
• Data de Publicação: 2012
• Outros Autores: Horovitz, Dafne Dain Gandelman, Llerena Júnior, Juan Clinton
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Revista Brasileira de Medicina de Família e Comunidade (Online)
• Texto Completo: https://www.rbmfc.org.br/rbmfc/article/view/485
• topic: Primary Health Care; Birth Defects; Medical Genetics; Disabilities; Diagnosis; Atención Primaria de la Salud; Defectos Congénitos; Genética Médica; Deficiencia; Diagnóstico; Atenção Primária à Saúde; Defeitos Congênitos; Genética Médica; Deficiência; Diagnóstico; Atenção Primária à Saúde; Defeitos Congênitos; Genética Médica; Deficiência; Diagnóstico

Genetic disorders affect about 3-10% of the population and can lead to chronic health problems and disabilities. The present work aimed to describe a new experience in health care in clinical genetics by an itinerant team of experts that evaluated patients selected by the primary care through the supplementary registration form for people with disabilities. A descriptive and transversal study was carried out with patients, who were previously identified by the supplementary registration form for people with disabilities, evaluated by the team in 2005, 2008 and 2009, in a total of 324 families. The etiology of disability was defined as genetic in 38% of the cases and environmental in 32.7%. The prevalence of congenital malformations was 31.8%. Family Health Strategy was utilized as a gateway to expand the access to health services for people with highly complex genetic diseases, birth defects and disabilities. The results expose the need to interiorize medical genetics and its interfaces with primary care in Brazil, reinforcing the importance of implementing health policies in this area.