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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.

journal_name

Orphanet J Rare Dis

journal_title

Orphanet journal of rare diseases

authors

Giugliani R,Vairo FP,Riegel M,de Souza CF,Schwartz IV,Pena SD

doi

10.1186/s13023-016-0458-3

subject

Has Abstract

pub_date

2016-06-10 00:00:00

pages

76

issue

1

issn

1750-1172

pii

10.1186/s13023-016-0458-3

journal_volume

11

pub_type

杂志文章,评审

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