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Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil |
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| Authors: | A X Acosta K Abé-Sandes R Giugliani A H Bittles |
| Institution: | 1. Bahia School of Medicine, Federal University of Bahia, Salvador, BA, Brazil 2. National Institute of Population Medical Genetics – INAGEMP, Porto Alegre, Brazil 3. Centre for Comparative Genomics, Murdoch University, Perth, Australia 7. Hospital Universitário Professor Edgar Santos, Servi?o de Genética Médica, Av Augusto Viana, s/n, 6a andar, Canela, Salvador, Bahia, Brazil, CEP 40080-160 4. Brazil State University of Bahia, Salvador, BA, Brazil 5. Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil 6. School of Medical Sciences, Edith Cowan University, Perth, Australia |
| Abstract: | 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. |
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