Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement
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2020
Authors
Laudus, NeleAudrézet, Marie-Pierre
Girodon, Emmanuelle
Morris, Michael A.
Radojkovic, Dragica
Raynal, Caroline
Seia, Manuela
Štambergová, Alexandra
Torkler, Heike
Yamamoto, Raina
Dequeker, Elisabeth M. C.
Article (Published version)
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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 num- ber 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 re- porting on two mock clinical cases were each compared over time (case 1: 20 05, 20 07 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) versu...s diagnostic testing for a child (case 2)). Furthermore, we analyzed the influence of previous participations, annual test vol- ume, 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.
Keywords:
CFTR-related disorders / Cystic fibrosis / External quality assessment / p.Arg117HisSource:
Journal of Cystic Fibrosis, 2020, 19, 6, 969-974Related info:
DOI: 10.1016/j.jcf.2020.05.005
ISSN: 1569-1993; 1873-5010 (Online)
PubMed: 32505523
WoS: 000600567900024
Scopus: 2-s2.0-85085742301
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Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Laudus, Nele AU - Audrézet, Marie-Pierre AU - Girodon, Emmanuelle AU - Morris, Michael A. AU - Radojkovic, Dragica AU - Raynal, Caroline AU - Seia, Manuela AU - Štambergová, Alexandra AU - Torkler, Heike AU - Yamamoto, Raina AU - Dequeker, Elisabeth M. C. PY - 2020 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/1640 AB - 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 num- ber 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 re- porting on two mock clinical cases were each compared over time (case 1: 20 05, 20 07 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 vol- ume, 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. T2 - Journal of Cystic Fibrosis T2 - Journal of Cystic FibrosisJournal of Cystic Fibrosis T1 - Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement EP - 974 IS - 6 SP - 969 VL - 19 DO - 10.1016/j.jcf.2020.05.005 ER -
@article{ author = "Laudus, Nele and Audrézet, Marie-Pierre and Girodon, Emmanuelle and Morris, Michael A. and Radojkovic, Dragica and Raynal, Caroline and Seia, Manuela and Štambergová, Alexandra and Torkler, Heike and Yamamoto, Raina and Dequeker, Elisabeth M. C.", year = "2020", abstract = "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 num- ber 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 re- porting on two mock clinical cases were each compared over time (case 1: 20 05, 20 07 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 vol- ume, 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.", journal = "Journal of Cystic Fibrosis, Journal of Cystic FibrosisJournal of Cystic Fibrosis", title = "Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement", pages = "974-969", number = "6", volume = "19", doi = "10.1016/j.jcf.2020.05.005" }
Laudus, N., Audrézet, M., Girodon, E., Morris, M. A., Radojkovic, D., Raynal, C., Seia, M., Štambergová, A., Torkler, H., Yamamoto, R.,& Dequeker, E. M. C.. (2020). Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement. in Journal of Cystic Fibrosis, 19(6), 969-974. https://doi.org/10.1016/j.jcf.2020.05.005
Laudus N, Audrézet M, Girodon E, Morris MA, Radojkovic D, Raynal C, Seia M, Štambergová A, Torkler H, Yamamoto R, Dequeker EMC. Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement. in Journal of Cystic Fibrosis. 2020;19(6):969-974. doi:10.1016/j.jcf.2020.05.005 .
Laudus, Nele, Audrézet, Marie-Pierre, Girodon, Emmanuelle, Morris, Michael A., Radojkovic, Dragica, Raynal, Caroline, Seia, Manuela, Štambergová, Alexandra, Torkler, Heike, Yamamoto, Raina, Dequeker, Elisabeth M. C., "Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement" in Journal of Cystic Fibrosis, 19, no. 6 (2020):969-974, https://doi.org/10.1016/j.jcf.2020.05.005 . .