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The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery

1
Inserm, University of Brest, EFS, UMR 1078, GGB, F-29200 Brest, France
2
Department of Molecular Genetics, University Hospital of Brest, F-29200 Brest, France
*
Author to whom correspondence should be addressed.
Genes 2020, 11(6), 589; https://doi.org/10.3390/genes11060589
Received: 25 April 2020 / Revised: 17 May 2020 / Accepted: 18 May 2020 / Published: 26 May 2020
(This article belongs to the Special Issue Molecular Basis and Gene Therapies of Cystic Fibrosis)
Significant advances in the management of cystic fibrosis (CF) in recent decades have dramatically changed the epidemiology and prognosis of this serious disease, which is no longer an exclusively pediatric disease. This paper aims to review the changes in the incidence and survival of CF and to assess the impact of the discovery of the responsible gene (the CFTR gene) on these changes. The incidence of CF appears to be decreasing in most countries and patient survival, which can be monitored by various indicators, has improved substantially, with an estimated median age of survival of approximately50 years today. Cloning of the CFTR gene 30 years ago and efforts to identify its many mutations have greatly improved the management of CF. Implementation of genetic screening policies has enabled earlier diagnosis (via newborn screening), in addition to prevention within families or in the general population in some areas (via prenatal diagnosis, family testing or population carrier screening). In the past decade, in-depth knowledge of the molecular bases of CF has also enabled the emergence of CFTR modulator therapies which have led to major clinical advances in the treatment of CF. All of these phenomena have contributed to changing the face of CF. The advent of targeted therapies has paved the way for precision medicine and is expected to further improve survival in the coming years. View Full-Text
Keywords: cystic fibrosis; CFTR gene; incidence; survival; genotype-phenotype correlations; health policies; newborn screening; CFTR modulators cystic fibrosis; CFTR gene; incidence; survival; genotype-phenotype correlations; health policies; newborn screening; CFTR modulators
MDPI and ACS Style

Scotet, V.; L’Hostis, C.; Férec, C. The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery. Genes 2020, 11, 589.

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