The medical genetics deals with diseases that are individually rare, but together consists in a remarkable group of illnesses responsible for a great part of pediatric hospitalizations and physical, sensorial and intellectual disabilities. Besides, a lot of genetic syndromes for heritable cancer predisposition and progressive neurodegenerative conditions have been already identified. The genetic disorders and birth defects prevalence in Brazil is not different from that found in other parts of the world and, in general, 3 to 5% of the Brazilian newborn have some congenital disorder, half or total determined by genetic factors. Recently, the National Policy for Treatment of People with Rare Diseases (PNAPDR, in Portuguese) was approved in SUS and, according to this Policy, the Primary Health Care is responsible for the coordination of healthcare and a continuous monitoring of the population of patients with genetic disease and/or birth defects which is registered under it responsibility. In this Policy was established nine specific attributions of Primary Health Attention's responsibility which include mapping people with or under risk of developing genetic diseases and/or birth defects for regulated guiding, promotion of health education with prevention goals, clinical follow up after diagnosis and genetic counseling, and home service in specific cases. This research project intends to cooperate with the efforts of the Ministry of Health to implant the PNAPDR and contribute to a better assistance to the patients with rare genetic diseases and birth defects in Brazil. For that, we goal: (1) contribute to the validation of an instrument (A-Gen Record) capable of identifying genetic disease and congenital disorder in the context of the Family Health Strategy; (2) making an active search of cases with probable genetic origin in a Family Health Unit (USF, in Portuguese); e (3) determine the prevalence of same-blood marriage and other risk factors (including social and environmental) for genetic diseases and birth defects in this same USF. This is an observational, descriptive and analytic study, made in cross-sectional study, is being developed in the city of São Carlos, São Paulo. We will investigate a simple and random sample, representing the registered families in the USF "Antenor Garcia", through the A Record (Ficha A), recommended by the Ministry of Health for all the Brazilian Primary Health Care, and through the A-Gen Record (Ficha A-Gen), specially developed for the identification of genetic diseases and congenital disorders in Primary Health Care. The integration of both records will allow the investigation of the association between genetic diseases and birth defects with other information, like social and economical conditions, house conditions, basic sanitation and health conditions in general. The results will be analyzed statistically and the significance level will be 5%. Ultimately, we intend this study to be a material for the building of a integral care platform for patients with genetic diseases and birth defects in the city of São Carlos and surroundings, fully integrated on SUS.
News published in Agência FAPESP Newsletter about the scholarship: