The EQA program focuses in particular on standardizing laboratory procedures. Participation in EQA schemes provides a measure of technical, analytical, and interpretative performance. It has an educational role for laboratories and gives the opportunity to review their internal standards and policies, and also to provide advice on the updating of best practice guidelines [1
]. Moreover participation in EQA program is essential for laboratory accreditation with the international ISO 15189 standard [7
]. To date, EQA programs have been also used by laboratories as a tool for improving sample processing quality, hence the assessment takes into account not only genotyping and reporting, but it also looks at other aspects such as the interpretation of results [1
The Italian molecular EQA program was established in 2001; the VII round (2010) was reviewed versus previous rounds.
Fifty-six laboratories participated in the VII round and 320 samples were analyzed.
Genotyping was found to be quite satisfactory in general; only 4/56 laboratories in all schemes failed to correctly genotype samples: 3 for CF (4% of cases) and 1 for BT (1,5% of cases). In comparison, the error percentage for the CF scheme was higher in this round than the median error rate registered in previous rounds (0.2%) [14
]. In the framework of the BT scheme, only the analysis of 1/68 samples was wrong (1.5%) and the error percentage was higher than the median error rate reported in previous rounds (0.33%) [16
]. The analysis of these errors shows that techniques were generally well performed and raw data had good quality. In spite of previous rounds, where errors were mainly due to technical errors, during the VII round all errors were caused by suboptimal management of samples [14
No genotyping errors were performed by laboratories participating in the APC and FX schemes; this is a good result which reflects the outcome of the other rounds for the APC scheme and it represents an improvement in quality for the FX scheme [15
]. However, in the FX scheme, some genotypes were not completely defined because the number of triplets were not accurately reported in 28% of laboratory reports, and a variant, in one sample in APC scheme, was not detected by one laboratory.
Although laboratories returned acceptable analytical results in 97.5% of samples in all schemes, in the majority of reports, with variants within each schemes, the interpretation was correct but not complete. This data can be explained by the fact that during routine analysis, laboratories write out a technical report and leave it up to the genetic consultant to provide an accurate interpretation of genotype results in a separate report. In fact about 82% of laboratories who were penalized for lack of interpretation, or lack of necessary information, suggest and/or offer genetic counseling.
A comparison between our results and other published data shows a similar scenario during the first year of the interpretation survey [5
Like genotyping results, also report results were satisfactory for completeness of the information; during the VII round, in fact, 66% of reports on samples were good.
The focus on IEQA for the VII round shows satisfactory quality in genotyping and reports in comparison with previous published data, but we still observe room for improvement. A closer examination of the entire process of data reporting has highlighted the need to focus attention on the interpretation of results; this aspect was neglected in previous rounds because more attention was attached to the technical approach to sample analysis in order to ensure sound genotyping results.
All data collected within the framework of the IEQA and the European EQAs highlighted the need and the importance to carry on this activity in order to ensure adequate quality standards for the genetic tests performed in all laboratories.
At the present time the VIII round of the IEQA is under way; there has been an increase in the number of participating laboratories, and we expect some improvements in the laboratories that participated in the VII round.
Moreover in this round we are introducing a “poor performance” score for laboratories that make critical errors in genotype and/or interpretation and/or reports, that may significantly affect patient management. In this context our role is to contribute to improving laboratory quality through specific educational actions, improving the dialogue with laboratories and, if necessary, involving assessors and national experts in the process.