Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.
Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seventy five percent of the population depends on SUS, which thus far does not provide adequate coverage for genetic medical procedures. In 2014, SUS introduced the "Policy for the Integral Attention to Subjects with Rare Diseases", establishing guidelines for offering diagnosis and treatment. The policy defines the two main axes, genetic and non-genetic rare diseases. In this fashion, public genetic services in SUS will be installed and funded not by themselves, but as part of the more general policy of rare diseases. Unfortunately, up to now this policy is still depending on financial allowances to be effectively launched. In this article, our intention was to describe activities developed in the area of inborn errors of metabolism by a Brazilian reference center. In spite of the lack of support of SUS, thousands of Brazilian families affected by rare genetic metabolic disorders, and many health professionals from all regions of Brazil, already have benefited from the services, training programs and research projects provided by this comprehensive center.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil. rgiugliani@hcpa.edu.br.|Department of Genetics, UFRGS, Porto Alegre, RS, Brazil. rgiugliani@hcpa.edu.br.|Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil. rgiugliani@hcpa.edu.br.
Roberto
R
Giugliani
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil.
Filippo P
FP
Vairo
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil.|Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil.
Mariluce
M
Riegel
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil.
Carolina F M
CF
de Souza
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903, Porto Alegre, RS, Brazil.|Department of Genetics, UFRGS, Porto Alegre, RS, Brazil.|Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, RS, Brazil.
Ida V D
IV
Schwartz
Laboratório de Genômica Clínica da Faculdade de Medicina and Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
Sérgio D J
SD
Pena
D001938:Brazil / Q000453:epidemiology; D003695:Delivery of Health Care / Q000331:legislation & jurisprudence; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000453:epidemiology* / Q000235:genetics; D035583:Rare Diseases / Q000453:epidemiology* / Q000235:genetics
Brazil; Genetic Diseases; Inborn Errors of Metabolism; Rare Diseases