ReviewJournal of cystic fibrosis : official journal of the European Cystic Fibrosis Society2008
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Review in Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 183 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
183 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Medical interventions for chronic rhinosinusitis in cystic fibrosis.The Cochrane database of systematic reviews · 2022Pooled it
- CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.The Journal of pediatrics · 2009Guideline
- Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.The Journal of pediatrics · 2009Guideline
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.European journal of human genetics : EJHG · 2009Guideline
- Trial
- G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.Clinical and translational science · 2021Trial
- Ivacaftor in People with Cystic Fibrosis and aAnnals of the American Thoracic Society · 2021Trial
- Using different methods to process forced expiratory volume in one second (FEVF1000Research · 2018Trial
- Tezacaftor-Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis.The New England journal of medicine · 2017Trial
- Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.The New England journal of medicine · 2015Trial
- Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA.European journal of pediatrics · 2012Trial
- Morbidity and treatment costs of cystic fibrosis in a middle-income country.Singapore medical journal · 2026Article
- High-throughput screening identifies a trafficking corrector for long QT syndrome-associated KCNQ1 variants.JCI insight · 2026Article
- Beyond BMI: Nutritional Recovery and Functional Implications of CFTR Modulators in Cystic Fibrosis.Biology · 2026Review
- Personalized Medicine in Cystic Fibrosis: Characterization of Eight Rare CFTR Variants in Intestinal Organoids and Cellular Models.Molecular diagnosis & therapy · 2026Article
- Improvement of Cystic Fibrosis-Associated Liver Disease in Adults on Long-Term Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators.Life (Basel, Switzerland) · 2025Article
- High Throughput Screening Identifies a Small Molecule Trafficking Corrector for Long-QT Syndrome Associated KCNQ1 Variants.bioRxiv : the preprint server for biology · 2025Article
- Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring twoEClinicalMedicine · 2025Article
- hnRNP A1 induces aberrantLife science alliance · 2025Article
123 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors.
Funding
Abstract
It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings. Although the diagnosis of CF is usually straightforward, care needs to be exercised in the use and interpretation of genetic tests: genotype information is not the final arbiter of a clinical diagnosis of CF or CF transmembrane conductance regulator (CFTR) protein related disorders. The diagnosis of these conditions is primarily based on the clinical presentation, and is supported by evaluation of CFTR function (sweat testing, nasal potential difference) and genetic analysis. None of these features are sufficient on their own to make a diagnosis of CF or CFTR-related disorders. Broad genotype/phenotype associations are useful in epidemiological studies, but CFTR genotype does not accurately predict individual outcome. The use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended. The importance of communication between clinicians and medical genetic laboratories is emphasized. The results of testing and their implications should be reported in a manner understandable to the clinicians caring for CF patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.