Coordinator: JeanJacques Cassiman

1
Genetic testing in Europe a network for test
development, harmonization, validation and
standardization of services www.eurogentest.org M
ilan Macek 8th Baltic Congress of Laboratory
Medicine, Vilnius

• Co-ordinator Jean-Jacques Cassiman
• Katholieke Universiteit
• Leuven, Belgium

By Rebecca Kent
2
Quality issues in Europe
Lack of harmonized and standardized EQA Lack of
reference materials Limited number of accredited
labs
Insufficient counselling
Source IPTS/JRC-EC (Ibarreta et al. Towards
quality assurance and harmonization of genetic
testing services in the EU. Report EUR20977,
2003)
3
6FP EU Network of ExcellenceEUROGENTEST
Coordination Cassiman JJ (B) / Matthijs G (B)
Unit 1 Quality Management and Accreditation /
Certification of Genetic Testing Dequeker E (B)
/ R Hastings (UK) Unit 2 Information Sources
and Bio-informatics Tools Ayme S (F) /
Dallapiccola B (I) Unit 3 Clinical Genetics,
Community Genetics and Public Health Kristofferso
n U (Sw) / Schmidtke J (D) / Kaärianen H
(Fin) Unit 4 Ethical, Legal, Social Policy
Issues Nys H (B) / Sequiros J (P) Unit 5
Research and Emerging Technologies Bakker B (Nl)
/ Matthijs G (B) / Macek M (Cz) Unit 6
Education and Information Kent A (UK) / Coviello
D (I)
4
Major aims of the NoE EUROGENTEST

• Harmonization and quality improvement of genetic
  services
• Define the European dimensions which are
  compatible with and complementary to National
  approaches

5
Four Major domains of activities

• Quality of the laboratories
• Quality of the Clinical aspects of the services
• Translation of Technologies into diagnostic
  practice
• Educational aspects

6
Evolution of the Network over 5 years and beyond
Phase 1 Survey of the European scene for the
different activities of the 6 units of the
network.
Phase 2 Define and elaborate the procedures and
structures to be put in place to harmonize the
services and to improve their quality.
Phase 3 Continue the implementation of the
harmonization procedures and structures and
progressively establish financial autonomy.
7
UNIT 1
8
Unit 1 QM and Accreditation of Genetic Testing

• UNIT 1 GOAL
• To measurably improve the quality of the
  management and
• provision of genetic services for the benefit of
  the patient
• lab accreditation considered the norm.
• OBJECTIVES
• to help and encourage labs to implement a quality
  system
• provision of sustainable and harmonized EQA for
  all genetic labs through National and European
  EQA
• to facilitate access to and production of
  (Certified) Reference Materials
• to produce validated SOPs for diagnostic
  procedures.

9
Unit 1 QM and Accreditation of Genetic Testing

• Activity 1.1 Harmonization
• WP1.1 Guidelines and quality procedures
• WP1.10 Website and overall activities
• Activity 1.2 Quality management (E. Dequeker
  Mike Morris) WP1.2 Database in quality
  assurance
• WP1.8 Technical aspects of quality assurance
• Activity 1.3 Quality assessment schemes
• WP1.3 Molecular genetics EQA
• WP1.4 Cytogenetics EQA
• WP1.5 Biochemical genetics EQA
• WP1.9 Quality management of EQA schemes
• Activity 1.4 Reference systems and procedures
• WP1.6 Reference materials
• Activity 1.5 Validation of diagnostic tests
• WP1.7 Diagnostic Validation

10
Database

• Send QAu questionnaire
• December 2005
• Validation of the submitted data
• Data will be public available
• search on lab / EQA/ accreditation / licensing
• QAsurvey_at_eurogentest.org

11
Quality Management

• Workshops / Expert Meetings
• Workshop on accreditation, Leiden, The
  Netherlands
• 25 participants (April 2005)
• Workshop on IT support for QM, Leuven, Belgium
• 42 participants (September 2005)

12
Unit 1 QM and Accreditation of Genetic Testing

• Activity 1.1 Harmonization
• WP1.1 Guidelines and quality procedures
• WP1.10 Website and overall activities
• Activity 1.2 Quality management
• WP1.2 Database in quality assurance
• WP1.8 Technical aspects of quality assurance
• Activity 1.3 Quality assessment schemes
• WP1.3 Molecular genetics EQA (R Elles, C
  Mueller)
• WP1.4 Cytogenetics EQA (R
  Hastings)
• WP1.5 Biochemical genetics EQA (B Fowler)
• WP1.9 Quality management of EQA schemes (B
  Fowler)
• Activity 1.4 Reference systems and procedures
• WP1.6 Reference materials
• Activity 1.5 Validation of diagnostic tests
• WP1.7 Diagnostic Validation

13
Activity 1.3 - External Quality Assessment schemes

WPs 1.3, 1.4, 1.5 Molecular Genetics
Cytogenetics - Biochemical Genetics

• To work towards harmonizing existing EQA schemes
  in Europe.
• To provide a European EQA
• To expand opportunities for laboratories in EU25
  to participate in EQA.
• To meet the developing needs for quality systems
  for new services and new technologies.
• To link Internal Quality Control and EQA through
  consensus discussions on best practice.
• To work towards sustainable structures

14
Meeting on the situation of EQA for MGT in
Europe 17-02-2006, Prague
National guidelines/recommendations for MGT
Meeting Prague 17-02-2006
2
15
Unit 1 QM and Accreditation of Genetic Testing

• Activity 1.1 Harmonization
• WP1.1 Guidelines and quality procedures
• WP1.10 Website and overall activities
• Activity 1.2 Quality management
• WP1.2 Database in quality assurance
• WP1.8 Technical aspects of quality assurance
• Activity 1.3 Quality assessment schemes
• WP1.3 Molecular genetics EQA
• WP1.4 Cytogenetics EQA
• WP1.5 Biochemical genetics EQA
• WP1.9 Quality management of EQA schemes
• Activity 1.4 Reference systems and procedures
  (D Barton)
• WP1.6 Reference materials
• Activity 1.5 Validation of diagnostic tests
• WP1.7 Diagnostic Validation

16
(No Transcript)
17
Research and Emerging Technologies
Aim To support and to guide the implementation
of new technologies into diagnostic application.
Set up a rigorous test evaluation program, with
Beta testing in accredited laboratories, on
selected clinical samples, to ease introduction
of new technologies into the European diagnostic
laboratories.
Long term goal Constitute a network of
Excellent laboratories (NoE) and SMEs for beta
testing of new technologies following established
procedures.
18
Research and Emerging Technologies
WP5.1 Validate technologies, generate SOPs
- MLPA (BRCA1 kit 15 labs)
- DNA-extraction methods
(semi-automated) - CSCE Conformation
sensitive capillary electrophoresis WP1.7
Diagnostic validation, generic SOPs, and
dissemination of technology to the diagnostic
labs CFTR kit utilisation study
Anniek Corvelein, Florance le Calvez. Gert
Matthijs (Leuven)
Malgorzata, Jana Camajova,
Milan Macek (Prague)
19
Research and Emerging Technologies
WP5.2 Technology evaluation Implementation
network

• ? Goals
• Improve Technology transfer, bridge the gap
• research ? ? ? ?
  diagnostic application
• Select Technologies and primary evaluation
• Compile an inventory on existing and new
  technologies
• Technique-database (EuroGentest site,
  Participants Area )

20
(No Transcript)
21
(No Transcript)
22
Research and Emerging Technologies

• ? Inventory emerging Technologies
• EuroGentest Web page
• Call for Innovative Techniques in Genome
  Diagnostics
• Selection of applications
  to be presented
• by Unit 5 Scientist at the open
• Satellite meeting at ESHG conference (7th May,
  10.15 Room A)

23
Innovative Techniques in Genome Diagnostics"
Sunday May 7, 2006 Time 10.15 to 12.15
Room A
-Introduction Call for new Technology -"PAP"
technology Detection of ultra rare mutations
with high specificity - Y detection in maternal
plasma of pregnant women using "PAP -
Mutation scanning using high-resolution melting
curve analysis (HRMCA) - Evaluation of HRMCA as
a high-throughput mutation-scanning tool in
diagnostics - 3-D flow through microarray
technology new approaches in diagnostics -
Validation of BRCA1 MLPA technology by
EuroGentest - Concluding remarks
Nienke van der Stoep (NL) Qiang Liu (USA)
Wilbert van Workum, (NL) Deepika de Silva,
(USA) Claire Taylor (UK) Rinie van Beuningen
(NL) Gert Matthijs (BE) Bert Bakker (NL) ?

24
Research and Emerging Technologies
II- Evaluation procedure for new technique -
Minimal 3 labs involved, decide on leading lab,
first Unit 5 partners to gain experience,
alter also other EuroGentest partner or
associated labs (that fulfill the criteria)
- Choose same 'target/disease' and set up (?
use same primer sets, similar clinical
samples) - set up clear plan for first ½ upto
1 year   Agreements between selected diagnostic
labs and owner of technique usually a company
confidentiality agreement/IPR issues ?
Discuss plan in several phases
25
Thank you for your attention!
www.eurogentest.org