Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

2004 ◽  
Vol 42 (8) ◽  
Author(s):  
Domenica Taruscio ◽  
Vincenzo Falbo ◽  
Giovanna Floridia ◽  
Marco Salvatore ◽  
Chiara Pescucci ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Quality Assessment ◽  
External Quality Assessment ◽  
Fragile X ◽  
Molecular Genetic ◽  
Adenomatous Polyposis ◽  
Polyposis Coli ◽  
External Quality ◽  
Familial Adenomatous Polyposis Coli ◽  
Analytical Accuracy

AbstractThe 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.

The Italian pilot external quality assessment program for cystic fibrosis sweat test

2016 ◽  
Vol 49 (7-8) ◽  
pp. 601-605 ◽  
Author(s):  
Marco Salvatore ◽  
Giovanna Floridia ◽  
Annalisa Amato ◽  
Federica Censi ◽  
Claudio Carta ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Quality Assessment ◽  
External Quality Assessment ◽  
Sweat Test ◽  
External Quality ◽  
Assessment Program

scholarly journals Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data

2012 ◽  
Vol 20 (12) ◽  
pp. 1209-1215 ◽  
Author(s):  
Sarah Berwouts ◽  
Emmanuelle Girodon ◽  
Martin Schwarz ◽  
Manfred Stuhrmann ◽  
Michael A Morris ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Quality Assessment ◽  
Longitudinal Analysis ◽  
Clinical Laboratory ◽  
External Quality Assessment ◽  
Assessment Data ◽  
External Quality

scholarly journals The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
F. Censi ◽  
F. Tosto ◽  
G. Floridia ◽  
M. Marra ◽  
M. Salvatore ◽  
...  
Keyword(s):  
Genetic Testing ◽  
External Quality Assessment ◽  
Fragile X ◽  
Molecular Genetic ◽  
Beta Thalassemia ◽  
Molecular Genetic Testing ◽  
Quality Assurance Programme ◽  
Familial Adenomatous Polyposis Coli ◽  
Public And Private ◽  
Routine Procedures

Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF), Beta Thalassemia (BT), Fragile X Syndrome (FX), and Familial Adenomatous Polyposis Coli (APC). Since 2009 this activity is an institutional activity and participation is open to both public and private laboratories. Seven rounds have been performed until now and the eighth is in progress. Laboratories receive 4 DNA samples with mock clinical indications. They analyze the samples using their routine procedures. A panel of assessors review the raw data and the reports; all data are managed through a web utility. In 2010 the number of participants was 43, 17, 15, 5 for CF, BT, FX, APC schemes respectively. Genotyping results were correct in 96%, 98.5%, 100%, and 100% of CF, BT, FX, and APC samples, respectively. Interpretation was correct in 74%, 91%, 88%, and 60% of CF, BT, FX, and APC reports, respectively; however in most of them it was not complete but a referral to genetic counseling was given. Reports were satisfactory in more than 60% of samples in all schemes. This work presents the 2010 results in detail comparing our data with those from other European schemes.

Customer satisfaction survey to improve the European cystic fibrosis external quality assessment scheme

2011 ◽  
Vol 49 (8) ◽  
Author(s):  
Sarah Berwouts ◽  
Elisabeth Dequeker
Keyword(s):  
Cystic Fibrosis ◽  
Customer Satisfaction ◽  
Quality Assessment ◽  
Gap Analysis ◽  
External Quality Assessment ◽  
Satisfaction Survey ◽  
User Friendliness ◽  
External Quality ◽  
External Quality Assessment Scheme ◽  
Customer Satisfaction Survey

AbstractThe Cystic Fibrosis European Network, coordinated from within the Katholieke Universiteit Leuven, is the provider of the European cystic fibrosis external quality assessment (EQA) scheme. The network aimed to seek feedback from laboratories that participated in the cystic fibrosis scheme in order to improve services offered. In this study we analysed responses to an on-line customer satisfaction survey conducted between September and November 2009.The survey was sent to 213 laboratories that participated in the cystic fibrosis EQA scheme of 2008; 69 laboratories (32%) responded. Scores for importance and satisfaction were obtained from a five-point Likert scale for 24 attributes. A score of one corresponded to very dissatisfied/very unimportant and five corresponded to very satisfied/very important. Means were calculated and placed in a two-dimensional grid (importance-satisfaction analysis). Means were subtracted from each other to obtain gap values (gap-analysis).No attribute had a mean score below 3.63. The overall mean of satisfaction was 4.35. Opportunities for improvement enclosed clarity, usefulness and completeness of the general report and individual comments, and user-friendliness of the electronic datasheet.This type of customer satisfaction survey was a valuable instrument to identify opportunities to improve the cystic fibrosis EQA scheme. It should be conducted on a regular basis to reveal new opportunities in the future and to assess effectiveness of actions taken. Moreover, it could be a model for other EQA providers seeking feedback from participants. Overall, the customer satisfaction survey provided a powerful quality of care improvement tool.

scholarly journals Thirteen Years of an International External Quality Assessment Scheme for Genotyping: Results and Recommendations

2016 ◽  
Vol 62 (8) ◽  
pp. 1084-1095 ◽  
Author(s):  
Verena Haselmann ◽  
Wolf J Geilenkeuser ◽  
Simona Helfert ◽  
Romy Eichner ◽  
Svetlana Hetjens ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Quality Assessment ◽  
Error Rate ◽  
External Quality Assessment ◽  
Molecular Genetic ◽  
Genetic Diagnostics ◽  
External Quality ◽  
Sequence Variations ◽  
Therapeutic Decisions

Abstract BACKGROUND Suboptimal laboratory procedures resulting in genotyping errors, misdiagnosis, or incorrect reporting bear greatly on a patient's health management, therapeutic decisions made on their behalf, and ultimate outcome. Participation in external quality assessment (EQA) is a key element of quality assurance in molecular genetic diagnostics. Therefore, the Reference Institute for Bioanalytics has tried for 13 years to improve the quality of genetic testing by offering an EQA for different clinically relevant sequence variations. METHODS Within each of the biannual EQA schemes offered, up to 18 samples of lyophilized human genomic DNA were provided for up to 50 different molecular genetic tests. Laboratories were asked to use their routine procedures for genotyping. At least 2 expert peer assessors reviewed the final returns. Data from 2002 to 2014 were evaluated. RESULTS In total, 82 462 reported results from 812 characterized samples were evaluated. Globally, the number of participants increased each year along with the number of sequence variations offered. The error rate decreased significantly over the years with an overall error rate of 1.44%. Additionally, a decreased error rate for samples repeated over time was noted. Interestingly, the error rate showed a high difference depending on the locus analyzed and the method used. CONCLUSIONS Based on the evaluation of this long-term EQA scheme, various recommendations can be given to improve the quality of molecular genetic testing, such as the use of 2 different methods for genotyping. Furthermore, some methods are inappropriate for analysis of certain sequence variations.

scholarly journals Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme

2011 ◽  
Vol 32 (11) ◽  
pp. 1197-1203 ◽  
Author(s):  
Sarah Berwouts ◽  
Michael A. Morris ◽  
Emmanuelle Girodon ◽  
Martin Schwarz ◽  
Manfred Stuhrmann ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Quality Assessment ◽  
External Quality Assessment ◽  
External Quality ◽  
External Quality Assessment Scheme

The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia

2006 ◽  
Vol 96 (11) ◽  
pp. 597-601 ◽  
Author(s):  
Anne Goodeve ◽  
Marian Hill ◽  
Ian Jennings ◽  
Steve Kitchen ◽  
Isobel Walker ◽  
...  
Keyword(s):  
Quality Assurance ◽  
Genetic Testing ◽  
Quality Assessment ◽  
Cell Line ◽  
External Quality Assessment ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
External Quality ◽  
External Quality Assessment Scheme ◽  
The Uk

SummaryMolecular genetic analysis of families with haemophilia and other inherited bleeding disorders is nowa common laboratory investigation. In contrast to phenotypic testing in which strict quality control is adhered to, in haemophilia molecular genetic testing there has been a lack of any external quality assurance schemes. In 1998 the UK National External Quality Assessment Scheme (UK NEQAS) established a pilot quality assurance scheme for molecular genetic testing in haemophilia. Results from three initial surveys highlighted problems with the quality of samples when used to screen for the intron 22 inversion within the F8 gene. The scheme was re-launched in 2003, and since that time there have been five exercises involving whole blood or immortalised cell line DNA. The results together with an overall summary of the exercise are subsequently returned to participants. Exercises to date have focused exclusively on haemophilia A and QA, material has included screening for the intron 1 and intron 22 inversions as well as sequence analysis. A paper exercise circulated in 2003 highlighted problems with the format of reports and, following feedback to participants, onlya single error has been made in the subsequent four exercises. Participating laboratories now receive QA material every six months. Immortalised cell line material was introduced in 2005 and was shown to perform well. This will allow expansion of the scheme and a reduction in the dependence on blood donation.

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