TY - JOUR
T1 - Quality assessment in cytogenetic and molecular genetic testing
T2 - The experience of the Italian Project on Standardisation and Quality Assurance
AU - Taruscio, Domenica
AU - Falbo, Vincenzo
AU - Floridia, Giovanna
AU - Salvatore, Marco
AU - Pescucci, Chiara
AU - Cantafora, Alfredo
AU - Marongiu, Cesarina
AU - Baroncini, Anna
AU - Calzolari, Elisa
AU - Cao, Antonio
AU - Castaldo, Giuseppe
AU - Bricarelli, Franca Dagna
AU - Guanti, Ginevra
AU - Nitsch, Lucio
AU - Pignatti, Pier Franco
AU - Rosatelli, Cristina
AU - Salvatore, Francesco
AU - Zuffardi, Orsetta
PY - 2004
Y1 - 2004
N2 - The first Italian national trial of external quality assessment in genetic testing was organised within the framework of the " Italian National Project for Standardisation and Quality Assurance of Genetic Tests". Sixty-eight Public Health Service laboratories volunteered for the trial, which involved molecular genetic tests (cystic fibrosis, β-thalassaemia, familial adenomatous polyposis coli and fragile-X syndrome) and cytogenetic tests (prenatal and postnatal, the latter included cancer cytogenetics). The response rate was high (88.2%). The level of analytical accuracy was good, i.e., the percentage of laboratories that correctly genotyped all samples was 89.3% for cystic fibrosis, 90.9% for β-thalassaemia, 100% for familial adenomatous polyposis coli (despite two laboratories did not complete the analysis because the amount of DNA was considered insufficient), and 90.5% for fragile-X syndrome. Written reports differed widely and were judged "inadequate" in over 50% of cases. Most laboratories from the present study already have experience in previous European external quality assessments for at least one genetic test; this can explain the higher analytical accuracy in the Italian external quality assessment with respect to quality control programmes in other countries. Collaborative networks are strongly suggested to improve the quality of the reports.
AB - The first Italian national trial of external quality assessment in genetic testing was organised within the framework of the " Italian National Project for Standardisation and Quality Assurance of Genetic Tests". Sixty-eight Public Health Service laboratories volunteered for the trial, which involved molecular genetic tests (cystic fibrosis, β-thalassaemia, familial adenomatous polyposis coli and fragile-X syndrome) and cytogenetic tests (prenatal and postnatal, the latter included cancer cytogenetics). The response rate was high (88.2%). The level of analytical accuracy was good, i.e., the percentage of laboratories that correctly genotyped all samples was 89.3% for cystic fibrosis, 90.9% for β-thalassaemia, 100% for familial adenomatous polyposis coli (despite two laboratories did not complete the analysis because the amount of DNA was considered insufficient), and 90.5% for fragile-X syndrome. Written reports differed widely and were judged "inadequate" in over 50% of cases. Most laboratories from the present study already have experience in previous European external quality assessments for at least one genetic test; this can explain the higher analytical accuracy in the Italian external quality assessment with respect to quality control programmes in other countries. Collaborative networks are strongly suggested to improve the quality of the reports.
KW - Cytogenetics
KW - External quality assurance
KW - Molecular genetics tests
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U2 - 10.1515/CCLM.2004.148
DO - 10.1515/CCLM.2004.148
M3 - Article
C2 - 15387442
AN - SCOPUS:4444346207
VL - 42
SP - 915
EP - 921
JO - Clinical Chemistry and Laboratory Medicine
JF - Clinical Chemistry and Laboratory Medicine
SN - 1434-6621
IS - 8
ER -