Journal
GENETICS AND MOLECULAR BIOLOGY
Volume 42, Issue 1, Pages 155-164Publisher
SOC BRASIL GENETICA
DOI: 10.1590/1678-4685-GMB-2018-0214
Keywords
Information services; Medical Genetics; diagnostic networks; rare diseases; reference centers
Funding
- INAGEMP [CNPq 465549/2014-4, CAPES 88887.136366/2017-0, FAPERGS 17/2551-0000521-0]
- FIPE-HCPA
- Fundacao Medica do Rio Grande do Sul
- IGPT - Genetics for All Institute
- Prorext-UFRGS
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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 Clinicas 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), Alo Genetica (Hello Genetics - Medical Genetics Information Service for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Brazil Network); Rede EIM Brasil (I EM-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 Neurogenetica (Neurogenetics Network), and Rede Brasileira de Cancer Hereditario (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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