There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and improved characterisation of CFTR-related disorder (CFTR-RD). This is particularly pertinent with respect to accessibility to variant-specific therapy (VST), a transformational intervention for people with CF with eligible CFTR gene variants. This advance reinforces the need for a timely and accurate diagnosis. In the future, there is potential for trials to assess effectiveness of variant-specific therapy for CFTR-RD. The guidance in this paper reaffirms previous standards, clarifies a number of issues, and integrates emerging evidence. Timely and accurate diagnosis has never been more important for people with CF.

Adult Cystic Fibrosis Centre Royal Brompton Hospital and Imperial College London United Kingdom

All Wales Adult Cystic Fibrosis Centre University Hospital Llandough Cardiff and Vale University Health Board Cardiff UK

CF Centre Cologne Children's Hospital Faculty of Medicine and University of Cologne Kerpener Str 62 Cologne 50937 Germany

Cork Centre for Cystic Fibrosis Cork University Hospital Cork Ireland

Cystic Fibrosis Center IRCCS Istituto Giannina Gaslini Genoa Italy

Cystic Fibrosis Europe Brussels Belgium and the Belgian CF Association Brussels Belgium

Department of Medical Microbiology 2nd Faculty of Medicine Motol University Hospital Charles University Prague Czech Republic

Department of Pathophysiology and Transplantation Università degli Studi di Milano Respiratory Unit and Adult Cystic Fibrosis Center Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Milano Italy

Department of Pediatrics Justus Liebig University Giessen Giessen Germany

Department of Women's and Children's Health University of Liverpool Liverpool UK

Division of Paediatric Pulmonology and CF Centre Children's Hospital of Eastern Switzerland Claudiusstr 6 St Gallen 9006 Switzerland

Hospital Necker Enfants Malades AP HP CF centre Université Paris Descartes Paris France

Hospital Universitari Vall d'Hebron Barcelona Spain

INSERM U1151 Institut Necker Enfants Malades and Centre de Références Maladies Rares Mucoviscidose et Maladies apparentées Hôpital Necker Enfants Malades Assistance Publique Hôpitaux de Paris Centre and AP HP Hôpital Universitaire Necker Enfants Malades Service de Pneumologie Pédiatrique Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant Paris France

Laboratory of genetic epidemiology Research Centre for Medical Genetics Moscow Regional Research and Clinical Institute Moscow Russian Federation

McKusick Nathans Department of Genetic Medicine Johns Hopkins University Baltimore United States

Molecular Genetics Laboratory Cochin Hospital Assistance Publique Hôpitaux de Paris Université de Paris Paris France

Paediatric Pulmonology Allergology and CF Centre Department of Paediatrics 3 and Translational Lung Research Center German Lung Research Center University Hospital Heidelberg Germany

Respiratory Medicine and Cystic Fibrosis National Reference Center Cochin Hospital Assistance Publique Hôpitaux de Paris and Université Paris Cité Institut Cochin Inserm U1016 Paris France

School of Medicine Dentistry and Biomedical Sciences Queens University Belfast Belfast and NIHR Nottingham Biomedical Research Centre Nottingham UK

The Graub CF Center Pulmonary Institute Schneider Children's Medical Center Petah Tikva Israel

University Hospital Southampton NHS Foundation Trust Southampton United Kingdom

Westmead Clinical School University of Sydney and CITRICA Dept Respiratory and Sleep Medicine Westmead Hospital Westmead Australia

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