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.