Quality control in mutation analysis: the European Molecular Genetics Quality Network (EMQN)

Authors
Citation
Cr. Muller, Quality control in mutation analysis: the European Molecular Genetics Quality Network (EMQN), EUR J PED, 160(8), 2001, pp. 464-467
Citations number
2
Language
INGLESE
art.tipo
Review
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
EUROPEAN JOURNAL OF PEDIATRICS
ISSN journal
0340-6199 → ACNP
Volume
160
Issue
8
Year of publication
2001
Pages
464 - 467
Database
ISI
SICI code
0340-6199(200108)160:8<464:QCIMAT>2.0.ZU;2-T
Abstract
The demand for clinical molecular genetics testing has steadily grown since its introduction in the 1980s. In order to reach and maintain the agreed q uality standards of laboratory medicine, the same internal and external qua lity assurance (IQA/EQA) criteria have to be applied as for "conventional" clinical chemistry or pathology. In 1996 the European Molecular Genetics Qu ality Network (EMQN) was established in order to spread QA standards across Europe and to harmonise the existing national activities. EMQN is operated by a central co-ordinator and 17 national partners from 15 EU countries; s ince 1998 it is being funded by the EU commission for a 3-year period. EMQN promotes QA by two tools: by providing disease-specific best practice meet ings (BPM) and EQA schemes. A typical BPM is focussed on one disease or gro up of related disorders. International experts report on the latest news of gene characterisation and function and the state-of-the-art techniques for mutation detection. Disease-specific EQA schemes are provided by experts i n the field. DNA samples are sent out together with mock clinical referrals and a diagnostic question is asked. Written reports must be returned which are marked for genotyping and interpretation. So far, three BPMs have been held and six EQA schemes are in operation at various stages. Although muta tion types and diagnostic techniques varied considerably between schemes, t he overall technical performance showed a high diagnostic standard. Neverth eless, serious genotyping errors have been occurred in some schemes which u nderline the necessity of quality assurance efforts. Conclusion The European Molecular Genetics Quality Network provides a neces sary platform for the internal and external quality assurance of molecular genetic testing.