European Molecular Genetics Quality Network

Project Description

Funding EU 4th Framework; Standards, Measurements and Testing Network.
Total Grant: €630700 (£391,199)
Irish allocation: €51,500 (£31,944)
Partner Dr David Barton.
Collaborators Dr Rob Elles, Manchester and 18 other European Centres.
Duration November 1998 - November 2001.
Official Website


Scientific progress in human genetics in the last ten years has been extremely rapid, and has led to the possibility of many new tests of clinical relevance.

These new tests are mostly based on DNA technologies (molecular genetics) and are applicable to diagnostic problems in inherited disorders.

In most EU countries, Genetics Centres have been established to offer these new diagnostic tests. These Centres are often closely allied to academic research facilities, but are faced with the problems and pressures encountered in other clinical diagnostic disciplines - of quality, standardisation and response time.

These problems are compounded by the constant demand for the introduction of new tests, the lack of automation in molecular genetics laboratories and the lack of commercial testing kits for most genetic disorders.

Because of the relatively small numbers of Centres involved, molecular genetics diagnostics is uniquely well placed to benefit from a Europe-wide collaboration on quality issues. External quality assessment (EQA) involves sending identical clinical samples to participating laboratories and assessing the accuracy of the genotyping and the accuracy and completeness of the interpretation.

Well-developed external quality assessment schemes in molecular genetics exist covering the UK, Ireland, The Netherlands and Germany. EQA is less well organised in other EU countries, and a need has been identified to share the experience gained from the established EQA schemes with scientists in countries which do not have this experience. This has led to the establishment of the European Molecular genetics Quality Network.

EMQN is now run as a non-profit organisation funded by subscriptions and participation fees.

Long-term objectives

The long-term objectives of this Project are:

  1. To raise and maintain the standard of clinical molecular genetic testing in the EU through the establishment of standard EQA schemes and agreed Best Practice Guidelines.
  2. To improve the access to high-quality clinical molecular genetics testing for the EU population and to facilitate a quality network, by supporting an active on-line database of diagnostic services.
    • New disease-specificand generic external quality assessment programmes.
    • Best Practice Meetings for specific diseases or techniques.
    • A regular six-monthly newsletter concerning the above activities sent to clinical molecular genetics centres.
    • A website to disseminate information, with links to other relevant sites.
    • Published Best Practice Guidelines.
    • An open annual feedback meeting for participants.


  1. Quality Control in Molecular Genetic testing.
    Dequeker E, Ramsden S, Grody W.W, Stenzel T.T, Barton D.E.
    Nature Reviews Genetics 2: 717-723, 2001.
  2. Retaining the Confidence of the Public in Molecular Genetic Testing - Quality Assurance.
    Patton S, Barton D.E, Elles R.
    Community Genetics 3: 164-169, 2000.