Presentation Milan Macek
Upcoming SlideShare
Loading in...5
×
 

Presentation Milan Macek

on

  • 530 views

 

Statistics

Views

Total Views
530
Views on SlideShare
530
Embed Views
0

Actions

Likes
0
Downloads
0
Comments
0

0 Embeds 0

No embeds

Accessibility

Categories

Upload Details

Uploaded via as Microsoft PowerPoint

Usage Rights

© All Rights Reserved

Report content

Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

Cancel
  • Full Name Full Name Comment goes here.
    Are you sure you want to
    Your message goes here
    Processing…
Post Comment
Edit your comment

Presentation Milan Macek Presentation Milan Macek Presentation Transcript

  • Co-ordinator: Jean-Jacques Cassiman Katholieke Universiteit Leuven, Belgium By Rebecca Kent Genetic testing in Europe : a n etwork for test development, harmonization, validation and standardization of services www.eurogentest.org Milan Macek 8th Baltic Congress of Laboratory Medicine, Vilnius
  • 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) More than 1000 laboratories/centers in different settings More than 1000 rare diseases can be tested Lack of centralized and uniform information about services Limited networking
  • 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 Kristofferson 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) Coordination Cassiman JJ (B) / Matthijs G (B) 6FP EU Network of Excellence “EUROGENTEST” View slide
    • Harmonization and quality improvement of genetic services
    • Define the European dimensions which are compatible with and complementary to National approaches
    Major aims of the NoE “EUROGENTEST” View slide
      • Quality of the laboratories
      • Quality of the Clinical aspects of the services
      • Translation of Technologies into diagnostic practice
      • Educational aspects
    Four Major domains of activities
  • 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 s tructures 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 .
  • UNIT 1
  • 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.
  • 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
  • Database
    • Send QAu questionnaire
        • December 2005
    • Validation of the submitted data
    • Data will be public available
      • search on lab / EQA/ accreditation / licensing
    • [email_address]
  • 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)
  • 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
  • Activity 1.3 - External Quality Assessment schemes
    • 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
    WPs 1.3, 1.4, 1.5: Molecular Genetics – Cytogenetics - Biochemical Genetics
  • Meeting on the situation of EQA for MGT in Europe 17-02-2006, Prague National guidelines/recommendations for MGT 2 Meeting Prague 17-02-2006 From national society of human genetics NO From government From others
  • 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
  •  
  • Long term goal: Constitute a network of Excellent laboratories (NoE) and SME’s for beta testing of new technologies following established procedures. 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.
  • WP5.1: Validate technologies, generate SOP’s - 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) Research and Emerging Technologies
    • ► 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 )
    WP5.2: Technology evaluation; Implementation network 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 (7 th May, 10.15 Room A)
    Research and Emerging Technologies
  • -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)  “ Innovative Techniques in Genome Diagnostics" Sunday May 7, 2006 Time: 10.15 to 12.15 Room: A
  • 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; Research and Emerging Technologies
  • www.eurogentest.org Thank you for your attention!