Identification of genetic diseases in Primary Health Care: experience of a medium county in Brazil

• Autor(a) principal: Santos, Cleyton Soares dos
• Data de Publicação: 2020
• Outros Autores: Kishi, Renata Giannecchini Bongiovanni, Costa, Daniel Lima Gomes da, Silva, Danniel Sann Dias da, Narciso, Tânia Regina Franco, Avó, Lucimar Retto da Silva de, Germano, Carla Maria Ramos, Sandes, Kiyoko Abe, Acosta, Angelina Xavier, Melo, Débora Gusmão
• 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/2347
• topic: Medical Genetics; Congenital Abnormalities; Primary Health Care.; Genética Médica; Anomalías Congénitas;; Atención Primaria de Salud.; Genética Médica; Defeitos Congênitos; Atenção Primária à Saúde.

Problem: Although individually rare, when added together, genetic diseases have an estimated overall prevalence of 31.5 to 73.0 per 1,000 individuals. In addition, genetic diseases and birth defects represent the second cause of infant mortality in Brazil. In this context, the National Policy on Comprehensive Care of People with Rare Diseases was established in the Brazilian National Health System. This policy provides specific Primary Health Care (PHC) assignments that includes early diagnosis and mapping people with or at risk of developing rare genetic disease and/or birth defects for regulated referral. This experience aimed to collaborate with developing methods for recognizing individuals with or at risk of developing genetic diseases in PHC. Methods: Through home visits and filling out a specific form, an active search for cases of genetic disease and/or birth defect was carried out in a random probabilistic sample, representative of a Family Health Unit in a Brazilian medium-sized county. Results: A total of 295 households were surveyed, totalling 1,160 individuals and 238 couples. The mean number of children per couple was 2.7, the inbreeding rate was 3.8% and the frequency of miscarriage was estimated in 8.7%. Twenty-nine individuals (2.5%) with congenital disorders, 11 (0.9%) with hearing impairment, 10 (0.9%) with mental disability, and 6 (0.5%) with significant visual deficits were identified. Neuropsychomotor developmental delay was presented in 8.8% of the children and teenagers. Twelve individuals (1%) had cancer and 9.6% reported a positive family history of cancer. Conclusion: PHC professionals are in a privileged position to identify and organize a care network for individuals with genetic diseases and/or birth defects. The systematic use of instruments that facilitate the recognition of risk factors and suspicious situations can be a useful strategy to be incorporated by PHC.