A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System

Cystic fibrosis (CF), an autosomal recessive genetic disease, is recognized as one of the most prevalent diseases in Caucasian populations. Epidemiological data show that the incidence of CF varies between countries and ethnic groups in the same region. CF occurs due to pathogenic variants in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR), located on chromosome 7q31.2. To date, more than 2,000 variants have been registered in the CFTR database. The study of these variants leads to the diagnosis and the possibility of a specific treatment for each patient through precision medicine. In this study, complete screening of CFTR was performed through next-generation sequencing (NGS) to gain insight into the variants circulating in the population of Rio de Janeiro and to provide patient access to treatment through genotype-specific therapies. Samples from 93 patients with an inconclusive molecular diagnosis were subjected to full-length screening of CFTR using an Illumina NGS HiSeq platform. Among these patients, 46 had two pathogenic variants, whereas 12 had only one CFTR variant. Twenty-four variants were not part of our routine screening. Of these 24 variants, V938Gfs ∗ 37 had not been described in the CF databases previously. This research achieved a molecular diagnosis of the patients with CF and identification of possible molecular candidates for genotype-specific treatments.

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“…Disease Markers [39]. Despite being a panel developed for a Brazilian region, it does not include all the variants observed in our sample.…”

Section: Discussionmentioning

confidence: 99%

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort

et al. 2021

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“…Esse levantamento, feito com base no sequenciamento completo do gene CFTR, possibilitou que boa parte dos pacientes que ainda não conhecia suas variantes as identificasse. Mais do que levantar os possíveis conflitos de interesse nessa parceria, rapidamente apontados por parte dos gestores públicos, gostaríamos de ressaltar a ausência de possibilidade de realizar esse teste pelo SUS, com uma única exceção para o Estado do Rio Grande do Sul 56 . Além disso, demarcar que o conhecimento das mutações e das suas classes pode sim encaminhar tratamentos terapêuticos específicos 57 , eficazes que retardam a progressão da doença e diminuem as dificuldades aliadas a um tratamento diário e exigente.…”

Section: A Fibrose Cística Na Era Da Medicina De Precisãounclassified

Doenças raras na agenda da inovação em saúde: avanços e desafios na fibrose cística

Amaral

Rêgo

2020

Cad. Saúde Pública

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Resumo: O presente artigo se propõe a discutir as muitas complexidades envolvidas na incorporação de novas tecnologias em saúde para doenças raras, tomando como foco central da discussão o caso da fibrose cística. Tal escolha acontece por ser essa uma doença rara, genética, autossômica recessiva, considerada a mais comum entre as doenças raras. Também por ser uma doença que tem se beneficiado imensamente dos investimentos em pesquisa no campo da biologia molecular, feitos principalmente nos Estados Unidos, mas também em grupos de pesquisa europeus que resultaram no registro e comercialização de quatro novos medicamentos. Esses novos fármacos atuam, pela primeira vez, no defeito básico da fibrose cística. Numa perspectiva que entende as doenças raras como um campo de pesquisa tecido entre muitos outros, o presente texto tenta problematizar, com base em uma perspectiva mais centrada nas pessoas com fibrose cística, a dualidade de testemunhar de longe a molecularizaçao da vida, o surgimento de medicamentos de última geração que interrompem, em nível molecular, a cascata de erros e portanto sintomas e evolução de sua doença. O texto busca trazer para o debate os vários elementos que atravessam a complexa realidade local dos pacientes brasileiros com fibrose cística, num contexto global de inovação tecnológica e de quebra de paradigma em seus tratamentos. Baseando-se no campo das doenças raras, passando pela apresentação da fibrose cística em tempos da medicina de precisão, aliado a discussões sobre biopolíticas num contexto de inovação em saúde e medicamentos de alto custo, o artigo tenta dar visibilidade aos desafios e possibilidades do tempo presente.

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“…Understanding consequences of CFTR mutations are important for individual and population health as it allows clinicians to provide prognostic information to patients and families, utilize CFTR modulators for improved health outcomes and as a basis to better understand genetic modifiers. In Brazil, an inexpensive genetic test to screen for 11 CFTR mutations was developed at approximately 10% of the cost of commercial testing and was validated in 34 patients with CF . The availability of rapid, inexpensive testing could be beneficial as precision treatment with CFTR modulators becomes available.…”

Section: Multisystem Effects Of Cystic Fibrosismentioning

confidence: 99%

“…In Brazil, an inexpensive genetic test to screen for 11 CFTR mutations was developed at approximately 10% of the cost of commercial testing and was validated in 34 patients with CF. 35 The availability of rapid, inexpensive testing could be beneficial as precision treatment with CFTR modulators becomes available. An example was outlined in a brief analysis of a small state within Brazil, where the expansion of mutation analysis led to the discovery that 42% of their patients were eligible for CFTR modulators.…”

Section: Understanding Cftr Mutationsmentioning

confidence: 99%

“…IQR] 1301 kcal/d vs 686; P < .0001) and proportion of energy intake (median [IQR] 44%[34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50][51] vs 31%[24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43]; P < .0001). Thus, while children with CF met their energy requirements and ate ample fat, this was largely due to ingestion of EDNP foods.…”

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confidence: 99%

See 1 more Smart Citation

Cystic fibrosis year in review 2018, part 2

Savant

McColley

2019

Pediatric Pulmonology

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A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System

Cited by 7 publications

References 17 publications

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort

Doenças raras na agenda da inovação em saúde: avanços e desafios na fibrose cística

Cystic fibrosis year in review 2018, part 2

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