Articles and reports released by unit 1

Preimplantation Genetic Diagnosis in Europe

• Download the executive summary
• Download the report

Reference materials

• New definitions on reference materials - March 2006
• The 'RM family': Identification of all of its members - March 2006

Workshops on accreditation in genetic testing laboratories

• Summary report of the workshops ( html or pdf)

EQA for Molecular genetic testing

• High throughput single nucleotide polymorphism genotyping, quality assurance needs in the Industrial, Academic and Clinical sectors – discussion document
• Report on Clinical Molecular Genetics External Quality Assessment European scheme providers' meeting.
• Report on European National representatives meeting, Prague, 17th February 2006

EQA for Cytogenetics

• Cytogenetic Guidelines and Quality Assurance
• Current Scope of Cytogenetics EQA Schemes and Key Recommendations for Harmonization of EQA in Europe
• Cytogenetic EQA (CEQA) Marking Criteria
• Feasibility of an internet-based EQA assessment system in Clinical Cytogenetics that audits the laboratory's analytical and interpretative performance

Reports on Biochemical Genetic Testing in Europe

• Updated Report on Biochemical Genetic Testing in Europe: deficits and needs and EQA (June 2007)
• Interim Report on Biochemical Genetic Testing in Europe: deficits and needs and EQA (September 2006)

Workpackage 1.1: Guidelines and Quality Procedures

• "Quality management and accreditation of genetic testing services", Elisabeth Dequeker, Ros Hastings, David Barton, Sarah Berwouts, Christine Brady, Jana Camajova, Philippe Corbisier, Anniek Corveleyn, Rob Elles, Brian Fowler, David Gancberg, Florence Le Calvez, Piotr Litynski, Milan Macek Jr, Uta Malburg, Gert Matthijs, Michael Morris, Clemens Müller, Nick Nagels, Bettina Quellhorst-Pawley, Alexandra Stambergova, Kate Vickers and Jean-Jacques Cassiman (abstract ESHG)
• Morris M "Eurogentest: research, harmonization and education in Quality Assurance in Europe". Abstract and presentation, ICHG 2006, Brisbane

Workpackage 1.2: Database in QAu

Key Publications

• Corveleyn A, Morris MA, Dequeker E, Sermon K, Lawford-Davies J, Antiñolo G, Schmutzler A, Vanecek J, Nagels N, Zika E, Palau F, Ibarreta D. “Provision and Quality Assurance of Preimplantation Genetic Diagnosis in Europe”. Eur J Hum Genet 2007 advance online publication.
• Corveleyn A, Zika E, Morris MA, Dequeker E, Lawford Davies J, Sermon K, Antiñolo G, Schmutzler A, Vanecek J, Palau F, Ibarreta D. "Preimplantation Genetic Diagnosis in Europe". IPTS/EC JRC report, EUR Number: 22764 EN. Publication date: 12/2007

Abstracts

• Corveleyn et al. (2006) Abstract: Quality Management and Quality Assurance in Molecular Genetic Testing Laboratories. Belgian Society of Human Genetics, February 17, 2006, Antwerp, BE.
• Berwouts et al. (2006) Abstract: Validation of a synthetic quality control sample in a European EQA scheme. Belgian Society of Human Genetics, February 17, 2006, Antwerp, BE.
• Berwouts et al. (2006) Abstract: Validation of a synthetic quality control sample in a European EQA scheme. Proceedings of the European Society Human Genetics conference in May 6-9, 2006 , Amsterdam, NL
• Dequeker et al. (2006). Abstract: Quality management and accreditation of genetic testing services. Proceedings of the European Society Human Genetics conference in May 6-9, 2006 , Amsterdam, NL.
• Corveleyn et al. (2006). Abstract + presentation: Quality Assurance in European genetic laboratories. Proceedings of the European Society Human Genetics conference in May 6-9, 2006 , Amsterdam, NL.

Other

• Corveleyn, Morris, Dequeker et al. poster, "Provision and quality assurance of preimplantation genetic diagnosis in Europe". Proceedings of the European Society Human Genetics conference in June 16-19, 2007, Nice, France.
• Corveleyn, conference, "Provision and quality assurance of preimplantation genetic diagnosis in Europe". PGD workshop (Chair Macek - Corveleyn); Proceedings of the European Society Human Genetics conference in June 16-19, 2007, Nice, France.
• Janssens et al. Abstract: "Multiplex ligation-dependent probe amplification (MLPA) - an interlaboratory collaborative validation study". Proceedings of the European Society Human Genetics conference in June 16-19, 2007, Nice, France.
• Nagels et al. Abstract: "EuroGentest survey and database of QAu in European genetic laboratories". Proceedings of the European Society Human Genetics conference in June 16-19, 2007, Nice, France.
• Gaudebout et al. Abstract: "Information on genetic testing in Europe: successes and difficulties". Proceedings of the European Society Human Genetics conference in June 16-19, 2007, Nice, France.
• Hastings et al. abstract: "Quality management and accreditation of genetic testing services". Proceedings of the European Society Human Genetics conference in June 16-19, 2007, Nice, France.
• Berwouts S, Corveleyn A, Nagels N, Morris MA, Dequeker E. "Encouraging quality management and accreditation in genetic testing laboratories: workshops on accreditation and quality assurance database" ESHG Newsletter, May 2007.

Workpackage 1.3: Organize and harmonize EQA for Molecular Genetic Testing

Publications

• A Multicentre Technology Assesment of the Abbott Fragile X Assay. (2007) Andrew Wallace, David Barton, PA van Bunderen, J Duncan, J Dunlop, S Man, J MacPherson, G Monaghan, J McLuskey, G Norbury, Y Patel, H Powell, V Race, M Sweeney, E Thompson, R Treacy, MM Weiss, N Williams, HE White and B Wymer. J Med. Genet. 44, Supplement 1
• Article outlining NGRL Manchester involvement in EuroGentest in UK NGRL quarterly newsletter (Issue 2 February 2006).

Other

• Summary document arising from the meeting of MG EQA European scheme providers' in Frankfurt (10/11/2005).
• Summary document arising from the meeting of MG EQA European national representatives in Prague (17/02/2006) (D1.3/2/1).
• A base-line report (including a preliminary report on sustainability) to inform the EuGT management and identify specific and detailed measures to be integrated into the forward work-program (D1.3/2/2, M1.3/2/1).

Workpackage 1.4: Organize and harmonize EQA for Cytogenetic Testing

Publications

• Cytogenetic Guidelines and Quality assurance: A common framework for quality assessment of constitutional and acquired cytogenetic investigations. Summary. Published in Eur. J. Hum. Genet., 15(3) 525-527. 2007 Ros J Hastings, Simona Cavani, Franca Dagna Bricarelli, Philippos Patsalis, Ulf Kristoffersson.
• An internet-based External Quality Assessment (EQA) in Cytogenetics that audits a laboratory's analytical and interpretative performance - paper submitted for publication in Eur. J. Hum. Genet., August 2007 RJ Hastings, EJ Maher, B Quellhorst-Pawley, R Howell
• Guidelines for molecular karyotyping in constitutional genetic diagnosis. Published in Eur. J. Hum. Genet., 15, 1105-1114, 2007. Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O
• Cytogenetic Guidelines and Quality assurance: A common framework for quality assessment of constitutional and acquired cytogenetic investigations. ECA newsletter, No 17, January 2006.

Abstracts

• External Quality Assessment (EQA) in Europe, (ESHG, Nice)
• EQA in Europe, ECA conference, Istanbul
• Web-based EQA, ECA conference, Istanbul
• A new External Quality Assessment (EQA) scheme for Europe – CEQA, (Prague)

Workpackage 1.5: Organize and harmonize EQA for Biochemical testing

Publications

• Laboratory testing for inherited metabolic disorders in Europe. B. Fowler. in Hospital Healthcare Europe. Camden Publishing Limited, 1 St. Johns Square, London EC1M 4PN . 2005/2006: pp. L43-L45

Abstracts

• Abstracts of three presentations at ICIEM, Tokyo in the Journal of Inherited Metabolic Disease, Vol 29, Supplement August 2006, pages 18, 41 and 162 respectively.

ERNDIM web Publications

• Annual report on the 2007 DPT scheme ( http://www.erndim.unibas.ch/)
• Educational Documents, Meeting & Reports ( http://www.erndim.unibas.ch/)

Workpackage 1.6: Quality Control Materials

Publications

• Emerging technologies for point-of-care genetic testing Dobson MG, Galvin P, Barton DE Expert Review of Molecular Diagnostics 7(4): 359-370, 2007
• Report of an international survey of molecular genetic testing laboratories McGovern MM, Elles R, Beretta I, Somerville MJ, Hoefler G, Keinanen M, Barton D, Carson N, Dequeker E, Brdicka R, Blazkova A, Aymé S, Schnieders B, Muller CR, Dalen V, Martinez AA, Kristoffersson U, Ozguc M, Mueller H, Boone J, Lubin IM, Sequeiros J, Taruscio D, Williamson B, Mainland L, Yoshikura H, Ronchi E Community Genet. 10(3):123-31, 2007
• Reliable Genetic Tests and Testings – Diagnostic biomarkers, reference materials, and beyond Barton DE, Kalman L Bioworld Europe 1: 18 – 21, 2007
• “Overview of genetic testing in Ireland” by David Barton, including discussion of EuroGentest activities and issues around IVDD and genetic testing. Irish Medicines Board newsletter, July 2007
• D. Gancberg et al. (2006) The production of certified reference materials (CRMs) for the analysis of the human factor II (prothrombin) gene G20210A mutation. Proc Eur Soc Hum Genet.14, S1, P1256, pp375.
• J. Marki-Zay et al. (2006) European proficiency testing study on the competence of laboratories to recognise rare mutations resulting in unexpected genotyping results. Proc Eur Soc Hum Genet.14, S1, P1276, pp379.
• S Berwouts et al. (2006) Validation of a synthetic quality control sample in a European EQA scheme. Proc.Eur Soc Hum Genet.14, S1, P1247, pp373
• E. Dequeker et al. (2006) Quality management and accreditation of genetic testing services. Proc. Eur Soc Hum Genet.14, S1, P1278, pp380

Posters

• poster for ESHG published on eposters.net

Workpackage 1.7 Diagnostic Validation

Electronic Publications

• The web-based software eMLPA ( http://eMLPA.lf2.cuni.cz) is available online and is so far available (only in Czech, thus far) and is currently being translated into English. This software has been developed by Dr. Miroslav Krhounek (bioinformatician and programmer) and Dr. Jana Camajova (molecular geneticist). Currently, it is in beta-testing at our laboratory comparing its results towards other established IT tools, such as the GeneMarker from SoftGenetics (USA). This free web-based software will be available to the Units 1 and 5 partners at the Training the Trainers meeting for initial review.
• Presentations from the Leuven April 2007 Brainstorming meeting are posted online the EuroGentest website http://www.eurogentest.org/web/db/event/177/index.xhtml
• All documents related to the MLPA validation, published the EUGT website: http://www.eurogentest.org/web/info/public/unit1/MLPAvalidation.xhtml

Papers

• Macek Jr. M. Camajova J, Krenkova P, Norambuena Goetz P, Macek M, Havlovicova M, Stambergova A. EuroGentest: European project for harmonization and improvement of genetic services (in Czech). Czech-Slovak Pediatrics 2007, 62 (7-8); 444-446 – an overview of Eurogentest activities for the Czech and Slovak medical genetics and related specialties (such as pediatrics)
• Brdicka R, Otahalova E, Camajova J, Stambergova A, Vrana M. Diagnostic / Clinical validation in genetic testing (in Czech). Clinical Biochemistry and Metabolism 2007 (1); 63-64 – an overview of guidelines for diagnostic validation of genetic tests for the Czech and Slovak molecular genetic community.
• Brdicka R, Vrana M, Otahalová E, Stambergova A, Camajova J. Analytical validation of molecular genetic methods used in the analysis of the human genome (in Czech). Clinical Biochemistry and metabolism 2007 (1): 58-62 – an overview of analytical validation for the Czech and Slovak molecular genetic community
• Camajova J, Berwouts S, Matthijs G, Macek Jr. M, Dequeker E. Variability in the use of CE marked kits for in vitro diagnostics of CFTR gene in European genetic testing laboratories. European Journal of Human Genetics 2007-2008 (submitted) – see previous WP1.7 reports with detailed description of the contents of this study.
• van Baal S, Kaimakis P, Phommarinh M, Koumbi D, Cuppens H, Riccardino F, Macek M Jr, Scriver CR, Patrinos GP. FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res 2007:D690-695 – publication of a relational database developed by Dr. G. Patrinos and using cystic fibrosis mutation distribution data as a model dataset. The relevance for WP1.7 is the supportive role of knowledge of the population distribution of CFTR gene mutations for establishing adequate diagnostic panels with sufficiently high population specific detection rates (according to CFNetwork guidelines) for validation of diagnostic kits and/or in house methods in cystic fibrosis DNA diagnostics.

Posters

• Contribution to poster by Els Dequeker et al. "Quality Management and accreditation of genetic testing services" at the ESHG in May 6-9, 2006 , Amsterdam, NL.
• Contribution of WP1.7 members to the Eurogentest and Innovative techniques in genome diagnostics (Unit 5) satellite symposium and Unit 5 poster (Nienke van de Stoep)

Workpackage 1.8: Technical aspects of QAu

Publications

• "Encouraging Quality Management and Accreditation in Genetic Testing Laboratories: Workshops on Accreditation and Quality Assurance Database.", Sarah Berwouts, Anniek Corveleyn, Nick Nagels, Michael A. Morris, Elisabeth Dequeker (ESHG Newsletter no 15, May 2007)
• "Provision and quality assurance of preimplantation genetic diagnosis in Europe." Annik Corveleyn, Michael A Morris, Elisabeth Dequeker, Karen Sermon, James Lawford Davies, Guillermo Antinolo, Andreas Schmutzler, Jiri Vanecek, Nick Nagels, Eleni Zika, Francesc Palau, Dolores Ibarreta (Eur J Hum Genet. 2007 Dec 19)
• "Validation of a synthetic quality control sample in a European EQA scheme", Berwouts S., Corveleyn A., Gordon J.T., Rundell C.A., Dequeker E. (abstract BeSHG, ACMG, ESHG)
• "Quality Management and Quality Assurance in Molecular Genetic Testing Laboratories", Corveleyn A., Berwouts S., Nagels N., Le Calvez F., Matthijs G., Dequeker E. (abstract BeSHG)
• "Quality management and accreditation of genetic testing services", Elisabeth Dequeker, Ros Hastings, David Barton, Sarah Berwouts, Christine Brady, Jana Camajova, Philippe Corbisier, Anniek Corveleyn, Rob Elles, Brian Fowler, David Gancberg, Florence Le Calvez, Piotr Litynski, Milan Macek Jr, Uta Malburg, Gert Matthijs, Michael Morris, Clemens Müller, Nick Nagels, Bettina Quellhorst-Pawley, Alexandra Stambergova, Kate Vickers and Jean-Jacques Cassiman (abstract ESHG)
• "Eurogentest: research, harmonization and education in Quality Assurance in Europe". Morris M. (Abstract and presentation, ICHG 2006, Brisbane)
• "External quality assessement / proficiency testing: lessons learned and future challenges". Dequeker E (Abstract and presentation, ICHG 2006, Brisbane)

Posters

• "Evaluation and use of a synthetic quality control sample, included in the European EQA scheme for Cystic Fibrosis", Berwouts S., Gordon J., Rundell C., Barton D., Dequeker E. (Quality in the spotlight, Antwerp, 22-23 March 2007)
• "Synthetic quality controls for cystic fibrosis testing, are they useful for a diagnostic laboratory?", Berwouts S., Gordon J., Rundell C., Barton D., Dequeker E. (ESHG, Nice , 16-19 June 2007)
• "Improving the quality system in our laboratories by sharing experiences.", Dequeker E., Berwouts S., Gielis M., Wynants A., Morris M.A. (ESHG, Nice , 16-19 June 2007)
• "EuroGentest: Reference Materials for Genetic Testing", David E Barton, David Gancberg, Philippe Corbisier, Sarah Berwouts, Elisabeth Dequeker and Christine Brady (ESHG, Nice , 16-19 June 2007)
• "EuroGentest Survey of Quality Assurance database in European genetic laboratories". Nick Nagels, Anniek Corveleyn, Lieve Desmet, Cécile Gaudebout, Bruno Urbero, Ségolène Aymé, Els Dequeker and Michael A. Morris (ESHG, Nice , 16-19 June 2007)
• “Provision and quality assurance of preimplantation genetic diagnosis in Europe” Anniek Corveleyn, Michael A. Morris, Elisabeth Dequeker, Karen Sermon, James Lawford-Davies, Guillermo Antiñolo, Andreas Schmutzler, Jiri Vanecek, Nick Nagels, Eleni Zika, Francesc Palau, Dolores Ibarreta. (ESHG, Nice , 16-19 June 2007).

Last changed: 2008-02-11