title: Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.
abstract: 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, beta-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 beta-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.
authors.affiliation: National Centre for Rare Diseases, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy. taruscio@iss.it
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Falbo
authors.forename: Giovanna
authors.initials: G
authors.lastname: Floridia
authors.forename: Marco
authors.initials: M
authors.lastname: Salvatore
authors.forename: Chiara
authors.initials: C
authors.lastname: Pescucci
authors.forename: Alfredo
authors.initials: A
authors.lastname: Cantafora
authors.forename: Cesarina
authors.initials: C
authors.lastname: Marongiu
authors.forename: Anna
authors.initials: A
authors.lastname: Baroncini
authors.forename: Elisa
authors.initials: E
authors.lastname: Calzolari
authors.forename: Antonio
authors.initials: A
authors.lastname: Cao
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Castaldo
authors.forename: Franca Dagna
authors.initials: FD
authors.lastname: Bricarelli
authors.forename: Ginevra
authors.initials: G
authors.lastname: Guanti
authors.forename: Lucio
authors.initials: L
authors.lastname: Nitsch
authors.forename: Pier Franco
authors.initials: PF
authors.lastname: Pignatti
authors.forename: Cristina
authors.initials: C
authors.lastname: Rosatelli
authors.forename: Francesco
authors.initials: F
authors.lastname: Salvatore
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D020732:Cytogenetic Analysis / Q000379:methods* / Q000592:standards; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics; D017491:Genes, APC; D005820:Genetic Testing / Q000379:methods* / Q000592:standards; D005838:Genotype; D006801:Humans; D007558:Italy; D025202:Molecular Diagnostic Techniques / Q000379:methods* / Q000592:standards; D011785:Quality Assurance, Health Care / Q000592:standards; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics