Assessment of a Pioneer Metabolic Information Service in Brazil

Brustolin, Silvia; Souza, Carolina Batista de; Puga, Ana Cristina; Refosco, Lı́lia Farret; Pires, Ricardo Flores; Peres, Rossana Mizunski; Giugliani, Roberto

doi:10.1159/000091494

Cited by 4 publications

(2 citation statements)

References 18 publications

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“…The Information Service on Inborn Errors of Metabolism (SIEM) has been operating at MGS/HCPA since October 2001. SIEM is a pioneer effort in the area of Inborn Errors of Metabolism (IEM), and we are not aware of any similar information service in Brazil or in Latin America (Brustolin et al. , 2006).…”

Section: Siemmentioning

confidence: 99%

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

Vieira¹,

Trapp

Souza

et al. 2019

Genet. Mol. Biol.

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Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information and diagnosis networks that have their headquarters at MGS/HCPA: SIAT (National Information System on Teratogenic Agents), SIEM (Information Service on Inborn Errors of Metabolism), Alô Genética (Hello Genetics - Medical Genetics Information Service for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Brazil Network); Rede EIM Brasil (IEM-Inborn Errors of Metabolism Brazil Network), Rede NPC Brasil (Niemann-Pick C - NPC Brazil Network), Rede DLD Brasil (LSD-Lysosomal Storage Disorders Brazil Network), Rede DXB (MSUD-Maple Syrup Urine Disease Network), RedeBRIM (Brazilian Network of Reference and Information in Microdeletion Syndromes Project), Rede Neurogenética (Neurogenetics Network), and Rede Brasileira de Câncer Hereditário (Brazilian Hereditary Cancer Network). These tools are very useful to provide access to a qualified information and/or diagnostic service for specialized and non-specialized health services, bypassing difficulties that preclude patients to access reference centers.

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Section: Siemmentioning

confidence: 99%

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

Vieira¹,

Trapp

Souza

et al. 2019

Genet. Mol. Biol.

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“…In addition, information about emergency management of suspected cases and a list of specialized professionals in the geographic area could be provided upon request. The telephone is available 24/7, with a member of the technical staff taking the calls from Monday to Friday in business hours, otherwise an answering machine records the message and a follow-up call is made in no more than 24–48 h. SIEM progressively started to work more and more with electronic requests that could be filled at the website ( www.siem.ufrgs.br , Portuguese and Spanish versions available) [ 4 ]. Until the end of 2015, SIEM received 2,720 requests for diagnostic help (not including requests for information and follow-up).…”

Section: Activities Of a Reference Center In Inborn Errors Of Metabolmentioning

confidence: 99%

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

Giugliani

Vairo

Riegel

et al. 2016

Orphanet J Rare Dis

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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.

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