Highlighting the impact of cascade carrier testing in cystic fibrosis families

Duguépéroux, I.; L’Hostis, Carine; Audrézet, Marie-Pierre; Rault, G.; Frachon, Irène; Bernard, R; Parent, Philippe; Blayau, Martine; Schmitt, Sébastien; Génin, Emmanuelle; Férec, Claude; Scotet, Virginie

doi:10.1016/j.jcf.2016.02.013

Cited by 9 publications

(6 citation statements)

References 35 publications

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“…Familiarity is among the most important reasons of diagnosis in adulthood (30% of total). The data collected by the IRCF does not allow to investigate further the degree of kinship leading to the diagnosis of CF, although it can be assumed that there may be cascade diagnoses from an index case diagnosed at an earlier age [22].…”

Section: Discussionmentioning

confidence: 99%

The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry

et al. 2021

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Cystic Fibrosis (CF) registries are an essential resource of epidemiological and clinical data. Although the median age at diagnosis is usually reported in the first months of life, a minority of individuals is diagnosed during adulthood. The aim of this study was to describe demographic, genetic, and clinical characteristics of this subgroup of the Italian CF population by using data from the Italian CF Registry (ICFR). Patients ≥18 years at diagnosis were selected and clinical data at diagnosis were analyzed from the 2012–2018 ICFR data (Cohort A). Subjects with diagnosis ≥18 years were selected from 2018 ICFR dataset (Cohort B) to describe their clinical status. In 2012–18 the incidence of late diagnosis was 18.2%, whereas, in 2018, the prevalence of patients diagnosed > 18 years was 12.54%. The median age of late diagnosis was 36.2 years, ranging from 19.0 to 68.3. The male patients were diagnosed because of infertility in the 45.9% of cases. Median sweat chloride value (SCL) was 69 mmol/L (range 9–150). F508del mutation accounted for 28.3% of alleles. A wide variability in respiratory function was present with a median percent predicted Forced Expiratory Volume in the first second (ppFEV1) of 90.8% (range 20–147%). Low prevalence of pancreatic insufficiency (25%) and of Pseudomonas aeruginosa (Pa) infection (17%) suggest a mild CF phenotype in the majority of patients. The assessment of the clinical status in the 2018 dataset and the comparison between genders showed a greater nutritional and respiratory impairment in females. Further studies are needed to clarify the importance of a true diagnostic delay or of late onset of CF symptoms.

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Section: Discussionmentioning

confidence: 99%

The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry

et al. 2021

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“…Por su parte, en un estudio retrospectivo (25 años) del 2016 en Francia, Dugueperoux, et al 38 , analizaron la probabilidad del uso de la prueba de portador de mutaciones para fibrosis quística y encontraron que la habían usado el 40,3 % (185 personas) de las 459 personas mayores de 18 años familiares de 40 pacientes con fibrosis quística. Esta estrategia permitió la detección de cinco parejas portadoras con riesgo de tener hijos con la enfermedad.…”

Section: Discussionunclassified

Costo-efectividad de la prueba de secuenciación del gen CFTR para portadores asintomáticos en la población colombiana

Andrade

Díaz

2020

biomedica

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Introducción. La fibrosis quística es una enfermedad genética de carácter autosómico recesivo clasificada como enfermedad huérfana de alto costo.Objetivo. Determinar la razón de costo-efectividad de la prueba diagnóstica de secuenciación del gen CFTR para los portadores asintomáticos familiares en primer, segundo y tercer grados de consanguinidad.Materiales y métodos. Se hizo una búsqueda sistemática sobre la evaluación de las características operativas de la prueba diagnóstica y los modelos de árbol de decisiones en estudios de costo-efectividad. Se elaboró un modelo de árbol de decisiones tomando como unidad de análisis la prevención de futuras concepciones. Los costos de la enfermedad se obtuvieron del reporte de alto costo del Ministerio de Salud de Colombia. Los costos de la prueba se obtuvieron de laboratorios nacionales. Se hizo un análisis de sensibilidad, determinístico y probabilístico, con la perspectiva del tercer pagador y horizonte a un año.Resultados. Se obtuvo una razón incremental de costo-efectividad (RICE) de USD$5.051,10 por obtener 10,89 % más de probabilidades de evitar el nacimiento de un niñoenfermo con fibrosis quística por pareja. Para los familiares de segundo y tercer grados, se encontró una RICE de USD$ 19.380,94 y USD$ 55.913,53, respectivamente, al aplicar el PIB per cápita. Esta tecnología fue costo-efectiva en 39 %, 61,18 % y 74,36 % para 1, 2 y 3 PIB per cápita en familiares de primer grado de consanguinidad.Conclusiones. La prueba genética de detección de portadores del gen CFTR resultó costo-efectiva dependiendo del umbral de la disponibilidad de pagar, y de los supuestos y limitaciones establecidas en el modelo.

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“…As such, many CF cases that would go unnoticed in countries without screening, are now picked up. The frequency of CF disease has been shown to be linked with carriership rate [28]. …”

Section: Discussionmentioning

confidence: 99%

Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory

Bosch

Boeck

et al. 2017

BMC Infect Dis

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BackgroundThe reason why Cystic Fibrosis (CF) is the most common fatal genetic disease among Caucasians has been incompletely studied. We aimed at deepening the hypothesis that CF carriers have a relative protection against Mycobacterium tuberculosis (Mtb) infection.MethodsApplying spatial epidemiology, we studied the link between CF carriership rate and tuberculosis (TB) incidence in Brazil. We corrected for 5 potential environmental and 2 immunological confounders in this relation: monthly income, sanitary provisions, literacy rates, racial composition and population density along with AIDS incidence rates and diabetes mellitus type 2. Smoking data were incomplete and not available for analysis.ResultsA significant, negative correlation between CF carriership rate and TB incidence, independent of any of the seven confounders was found.ConclusionWe provide exploratory support for the hypothesis that carrying a single CFTR mutation arms against Mtb infections.

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Highlighting the impact of cascade carrier testing in cystic fibrosis families

Abstract: This observational study assesses, for first time in Europe, uptake of CF cascade carrier testing within CF families, which is a critical tool to reassure non-carriers and to detect early new at-risk couples.

Cited by 9 publications

References 35 publications

The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry

The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry

Costo-efectividad de la prueba de secuenciación del gen CFTR para portadores asintomáticos en la población colombiana

Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory

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