Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

Abstract

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.

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

“…SGM/HCPA is a reference center for rare diseases in Brazil, and a WHO Collaborating Center for the Development of Medical Genetic Services in Latin America since 2004 [9].…”

Clinical research challenges in rare genetic diseases in Brazil

“…This comprehensive genetic service includes several laboratories and hosts several networks in the field of inborn errors of metabolism (such as the MPS Brazil Network, IEM Brazil Network, the NPC Brazil Network, and the LSD Brazil Network). Additionally, the center serves as a place for diagnostic support and data collection for these rare conditions, as well as for research and education in this area (Giugliani et al , 2016). We will focus on the clinical research group, which participates in several national and international clinical research protocols related to the natural history of, or therapy development for lysosomal diseases.…”

“…In 2014, the Ministry of Health introduced the “Policy for the Integral Attention to Subjects with Rare Diseases” in Brazil. The policy established guidelines for offering comprehensive care (diagnosis, treatment and/or long-term management) to individuals affected by rare diseases in the public unified health system (Passos-Bueno et al , 2014; Giugliani et al , 2016). The regulatory requirements for clinical trials are important and are intended to ensure the protection of research participants, regardless of the disease.…”

Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

“…MGS/HCPA is a well-known reference center in the country, and it has received samples from patients with suspected MPS since 1982 ( Giugliani et al , 2017 ). In 2004, the demand for testing patients suspected of having MPS led to the creation of the MPS Brazil Network, with a specific investigation workflow ( Giugliani et al , 2016 ). In this manner, this study aimed to report the birth prevalence and relative frequency of the different MPS types in Brazil to determine the epidemiological profile of this condition per state, per region and in the country as a whole.…”