Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement
| Autor: | Nele Laudus, Heike Torkler, E. Girodon, Elisabeth Dequeker, Dragica Radojkovic, Marie Pierre Audrézet, Raina Yamamoto, Manuela Seia, Michael Morris, C. Raynal, A. Stambergova |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pulmonary and Respiratory Medicine Male medicine.medical_specialty Cystic Fibrosis Genotype Longitudinal data Cystic Fibrosis Transmembrane Conductance Regulator Disease Cystic fibrosis 03 medical and health sciences 0302 clinical medicine Internal medicine External quality assessment medicine Humans Genetic Predisposition to Disease Overall performance Genetic Testing Longitudinal Studies Accreditation Retrospective Studies p.Arg117His business.industry Diagnostic test Genetic Variation medicine.disease 3. Good health 030104 developmental biology Phenotype 030228 respiratory system Laboratory reporting Pediatrics Perinatology and Child Health Mutation CFTR-related disorders Female business |
| Zdroj: | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society. 19(6) |
| ISSN: | 1873-5010 |
| Popis: | BACKGROUND: The clinical spectrum associated with cystic fibrosis transmembrane conductance regulator (CFTR) variant p.Arg117His is highly variable, ranging from full-blown cystic fibrosis (CF) in a small number of cases to CFTR-related disorders (CFTR-RDs) or no symptoms at all. Therefore, taking into account phenotype variability is essential for interpretation. External quality assessment (EQA) schemes can help laboratories to objectively assess the quality of genotyping and reporting by the laboratory. METHODS: We performed a retrospective longitudinal data analysis on laboratory performance regarding the interpretation of p.Arg117His during CF EQA scheme participation. Completeness and accuracy of reporting on two mock clinical cases were each compared over time (case 1: 2005, 2007 and 2012; case 2: 2015 and 2018). These cases concerned subjects compound heterozygous for p.Phe508del and p.Arg117His in cis with 7T, but with different clinical backgrounds (family planning (case 1) versus diagnostic testing for a child (case 2)). Furthermore, we analyzed the influence of previous participations, annual test volume, accreditation status and laboratory setting on overall performance. RESULTS: Overall performance improved over time, except during the 2007 CF EQA scheme. In addition, previous participations had a beneficial effect on laboratory performance. Accreditation status, annual test volume and laboratory setting did not significantly influence total interpretation scores. CONCLUSIONS: In general, laboratories performed well on both cases, although reporting on the variable clinical spectrum of p.Arg117His in cis with 7T and on the disease liability of individual CFTR variants can still improve. Moreover, this study underlined the educational role of CF EQA schemes. ispartof: JOURNAL OF CYSTIC FIBROSIS vol:19 issue:6 pages:969-974 ispartof: location:Netherlands status: published |
| Databáze: | OpenAIRE |
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