Document Type

Journal Article


Faculty of Health, Engineering and Science


School of Medical Sciences/Systems and Intervention Research Centre for Health




This article was originally published as: Acosta, A., Abe-Sandes, K., Giugliani, R., & Bittles, A. H. (2013). Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil. Journal of Genetic Counseling, 22(6), 830-834. The final publication is available at Springer via here


Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Único de Saúde) but, as in many other middle and low income countries, access to medical genetics services is limited in rural and remote regions of the country. Since there is no formally recognized Genetic Counseling profession, genetic counseling is provided by physicians, trained either in medical genetics or a related clinical discipline. A comprehensive medical genetics program has been established in Monte Santo, an inland rural community located in the state of Bahia in Northeast Brazil, with high prevalences of a number of autosomal recessive genetic disorders, including non-syndromic deafness, phenyketonuria, congenital hypothyroidism and mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Genetic education, counseling and treatment are locally provided, with a neonatal screening program for MPSVI currently under trial.