Author:

Keywords:

0604 Genetics, 1103 Clinical Sciences, Genetics & Heredity

Abstract:

Given the potential serious health consequences of genetic test results, mechanisms should be in place to assure the quality of the tests and the interpretation of the data. In this regard, the International Organization for Standardization ISO 15189 (5.6.4) and the Organisation for Economic Co-operation and Development (OECD) Guidelines for quality assurance in molecular genetic testing (2.C), contain requirements and recommendations for laboratories to participate in external quality assessment schemes (EQA). Participation in EQA schemes is useful not only to the laboratory, as a key element of its quality assurance processes, but also as a quality indicator to monitor the improvement of laboratory performance. The Cystic Fibrosis (CF) Network has been providing EQA since 1996 and has performance data from more than 10 years. This study focuses on a group of about 100 molecular genetics laboratories that participated in the CF EQA scheme for each of the previous three years. Reporting the correct genotype, provision of appropriate interpretation and additional elements required by ISO 15189 such as unique identification of the patient and sample type, are compared over these three years. In addition, comparable cases and samples with identical genotypes were included during the three-year period, which enabled Genetic counselling, education, genetic services, and public policy 418 us to analyse performance of a laboratory more specifically and to survey if individual comments, provided by the assessors, were taken into account by the laboratory. Regular participation contributes to continuous improvement and monitoring of internal quality in laboratory performance. Moreover, it is a relevant tool for assessors to educate laboratories.