Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.
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.
Taruscio
Domenica
D
National Centre for Rare Diseases, Department of Cell Biology and Neuroscience, Istituto Superiore di Sanità, Rome, Italy. taruscio@iss.it
Falbo
Vincenzo
V
Floridia
Giovanna
G
Salvatore
Marco
M
Pescucci
Chiara
C
Cantafora
Alfredo
A
Marongiu
Cesarina
C
Baroncini
Anna
A
Calzolari
Elisa
E
Cao
Antonio
A
Castaldo
Giuseppe
G
Bricarelli
Franca Dagna
FD
Guanti
Ginevra
G
Nitsch
Lucio
L
Pignatti
Pier Franco
PF
Rosatelli
Cristina
C
Salvatore
Francesco
F
Zuffardi
Orsetta
O
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