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Activities in Quality Management and Accreditation of Genetic Testing Services

Activities in Quality Management and Accreditation of Genetic Testing Services. Ros Hastings. EUROGENTEST: Activities in Quality Management and Accreditation of Genetic Testing Services. Unit Leaders: Els Dequeker, Ros Hastings. www.eurogentest.org. WP1.3 Molecular EQA. WP1.9 QM of EQA

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Activities in Quality Management and Accreditation of Genetic Testing Services

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  1. Activities in Quality Management and Accreditation of Genetic Testing Services Ros Hastings

  2. EUROGENTEST: Activities in Quality Management and Accreditation of Genetic Testing Services Unit Leaders: Els Dequeker, Ros Hastings www.eurogentest.org

  3. WP1.3 Molecular EQA WP1.9 QM of EQA schemes WP1.4 Cytogenetics EQA WP1.5 Biochemical EQA Quality Management and Accreditation Harmonization Dequeker, Hastings WP1.1 Website, overall activities Quality management Dequeker, Morris EQA Schemes Elles, Fowler, Hastings, Müller Reference systems & procedures Barton, Gancberg Validation of diagnostic tests Matthijs, Macek WP1.6 Reference materials WP1.7 Diagnostic validation WP1.2 QAu database WP1.8 Technical aspects of QAu

  4. Overall Objective To measurablyimprovethe quality of management and provision of genetic testing services for the benefit of the patients, laboratoryaccreditationconsidered to bethe norm.

  5. Quality Assurance Database Aims: • Create and maintain a QAu database of European genetic testing laboratories and make it available to the public • Identify closest accredited laboratory that offers a specialist genetic test • To develop a framework for sustainability of the database • Harmonization and collaboration between database providers http://www.eurogentest.org/web/qa/basic.xhtml

  6. Quality Assurance Database Progress: Release of the QAu database of European genetic testing laboratories • Evaluation / validation of the QAu data: • Summary test data • Quality managers • EQA participation • Accreditation and licensing: scopes • Modification of the internal EUGT QAu database search engine for public use and to include Orphanet activity data. • Register and update lab data online • Automated validation • Additional benefits • Publicize and reward effort and investment in QA • Educate public and regulators on the • importance of quality issues

  7. QAu database: How to find it www.eurogentest.org www.orpha.net

  8. Workshops - Training on QAu and accreditation Aims: • to support and encourage implementing and improving quality systems • to collaborate with accreditation bodies and other interested parties Progress: • 3 workshops and 2 round table discussions • Guidance documentfor preparing for accreditation • A glossary of QAu terms on EUGT website and evaluation report • Meeting with chair of EA to plan further collaboration Future: • More workshops and round table discussions (ESHG)

  9. Workshops - Training on QAu and accreditation • Participation over 3 years: • 8 different workshops, 3 topics • 5 x accreditation and quality systems • 2 x internal audit • 1 x IT support • 27 different countries participated • Europe: 24 • North-America: 1 • South-America: 1 • Australia: 1 • 85 different institutes participated • 156 different participants, • 29 of them participated more than once participated 8 x participated 6 x participated 5 x participated 4 x participated 3 x participated 2 x participated 1 x no participation http://www.eurogentest.org/unit1/workshops.xhtml

  10. Genetics External Quality Assessment (EQA) • Aims: • Harmonizing existing EQA schemes for genetic testing in Europe: • Expand opportunitiesfor genetic testing laboratories in Europe to participate in EQA • Link Internal Quality Control and EQA through consensus guidelines in genetic practice • Accreditation of EQA schemes • Progress: • Assisting National and European EQA Schemes to achieve accreditation: • Generic Quality Manual • EQA providers Forum • Standard EQA checklist • Formal EQA umbrella organisation for all genetic disciplines – ESHG Quality Committee • EMQN, CEQA and ERNDIM all preparing for accreditation

  11. C E Q A Cytogenetic European Quality Assessment Genetics External Quality Assessment (EQA) EQA • Progress: • EQA expansion through EUGT • New Participants for all EQAs Molecular New EQA: MODY 2 pilot EQAs: MD & mutation screening Inclusion of CF synthetic control materials 464 labs 41 countries Biochemical 7 schemes centres 9 EQAs 2 pilot EQAs 266 labs 18 countries New national representatives Cytogenetics CEQA scheme- 2 full EQAs + 2 pilots Internet based EQA and registration 70+ labs 28 European countries National schemes expanding repertoire

  12. C E Q A Cytogenetic European Quality Assessment Genetics External Quality Assessment (EQA) • Detail: • Best practice guidelines • Molecular • Best Practice Guidelines • 3 Best Practice meeting in 2007 • MODY Guidelines published • Draft SCA & BRCA guidelines • Biochemical • ERNDIM Guidelines • Guidelines for investigation of hyperammonaemia • White cell preparation for cysteine • 5 guidelines in preparation • Guidelines • Published: ERNDIM & EUGT website EQA • Cytogenetics • European Cytogenetic Guidelines and Quality Assurance: A common European framework for quality assessment for constitutional and acquired cytogenetic investigations • EJHG – a summary, March 2007 Microarray Best Practice • EJHG – Summer 2007

  13. Quality Control Materials Aims: • Support development of certifiable reference materials for a wide range of genetic tests • Build an enduring network, involving all the key stakeholders in RM development and use Progress: • Internationalsymposiaon RM in genetic testing • Guidance documentfor use of RMs in Genetic Testing • Guidelines for the production of further CRMs • Field trials (in collaboration with EU CF Network) for 2 differentcommercial multiplex RMs for CF testing • Workshop on the implications of theIVD Directive

  14. Diagnostic Validation Aims: • Diagnostic validation ofavailable methods, with the aim of facilitating their implementation • Evaluation of the performance of commercial kitsand / or technologies • Define criteria for and establish astandard procedurefor analytical / technical evaluation of test methods • Establish a draft guideline “Minimum acceptable standards for diagnostic validation” of molecular tests and commercial kits • Provide trainingin validation by experts

  15. Diagnostic Validation Progress: • Validation report: MLPA (Multiplex Ligation dependent Probe Amplification) • Diagnostic use and variability of the MLPA procedures • IT tools for MLPA analysis • Precision and performance evaluation • Chemagen DNA extraction for large volumes of blood • Validation report • Performance evaluation: CFTR commercial kit • Publication ‘Variability in the use of commercial CFTR assays’ Future: • New diagnostic method validation projects • HRMCA (high resolution melting curve analysis) • CSCE (conformation sensitive capillary electrophoresis)

  16. Quality Assurance Summary Benefit to Labs: • Contacts for other labs • Accredited labs for referring specialised tests • Positive and negative controls for assays • Validated SOPs • Generic SOPS for new technologies • Validation technologies/methods • Access to EQA schemes • Accreditation courses/advice Benefits patients too: • Assurance of quality results • Which labs offer a service in my area?

  17. The team

  18. Quality Control Materials Aims: • Support development of certifiable reference materials for a wide range of genetic tests • Guidelines for the production of further CRMs • Build an enduring network, involving all the key stakeholders in RM development and use • Inform stakeholders of the implications of the IVD Directive for Genetic Tests

  19. The EUGT – Orphanet QAu database • Why should I use it? • Find a lab to perform tests that are not available in my area • Identify the labs investing in QAu • Watch the uptake of QAu in Europe. • Why should I be in it? • Public window for your tests • Publicize your efforts and investment in QAu. • How do I put my lab in it? • Add or update your QAu data via the online form at www.eurogentest.org/web/qa/basic.xhtml → • Or contact your national Orphanet partner. • What does it cost me to join? • Nothing. • More questions ? • Contact qausurvey@eurogentest.org

  20. The EUGT – Orphanet QAu (quality assurance) database What does it contain? Validated data including : Quality managers Accreditation Licensing EQA participation data for 2004 and 2005 for about 100 schemes from 29 providers 2006 - 2007 update underway Full integration with Orphanet test and contact data Comprehensive search engine for QAu, contact and test data. Availability ? V1 online and publicly available since July 2007 Over 230 laboratories from 32 countries Basic search page has received over 5000 unique visits in the last 6 months. Who is it for? Consumers to facilitate an informed choice of a quality partner for genetic testing; Laboratories and QAu institutions to publicize and reward their efforts and investment in quality assurance; General public and regulators to educate them about the importance given to quality issues by our profession.

  21. Diagnostic Validation Plans for 2008: • Practitioners meeting in Prague: in search of consensus of • Draft of guideline“Minimum acceptable standards for diagnostic validation” • for molecular tests and commercial kits • Several annexes* Instructions MLPA * Instructions CFTR kit, FRAX kit * Generic SOP • Priority list of diagnostic tests for validation in the different core-labs • Validation of other DNA extraction platforms (e.g. Gentra) • Complete the additional diagnostic method validation projects: • HRMCA (high resolution melting curve analysis) • CSCE (conformation sensitive capillary electrophoresis) • Workshop on validation (link to QAu workshops) • Website: user guide on validation, glossary of terms, useful guidelines…

  22. Quality Control Materials Plans for 2008: • Further trial of CF multiplex RMs (if company supports it) • Support for RMs for New Technologies (Molecular Cytogenetics etc.) • Design for development of a plasmid-based generic mutation detection RM in collaboration with NGRL Wessex • Follow-up workshop with key regulators and stakeholders • Continued networking with RM developers and producers • Discussions with PHGU to look at Best Practice world-wide and find a balance to strengthen oversight but preserve test availability • Collaboration with SAFE on RMs for NIPD

  23. C E Q A Cytogenetic European Quality Assessment Plans for 2008: Genetics External Quality Assessment (EQA)

  24. Workshops - Training on QAu and accreditation Plans for 2008: Workshops / training • Workshops on: • Motivation and change • Laboratory accreditation • Diagnostic validation • Internal audit • Round-table session at the ESHG • Training of experts • Pilot Training on national level – initially Belgium • Benchmarking and business plan Monitoring improvements in quality assurance • Define key elements and barriers when implementing a quality system in genetic testing laboratories • Study the evolution of quality improvement after implementing key elements • Comparison of different standards and requirements for quality management

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