activities in quality management and accreditation of genetic testing services
DESCRIPTION
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 - PowerPoint PPT PresentationTRANSCRIPT
04/19/23
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
WP1.5Biochemical
EQA
WP1.4Cytogenetics
EQA
WP1.3Molecular
EQA
WP1.9QM of EQAschemes
HarmonizationDequeker, Hastings
Qualitymanagement
Dequeker, Morris
EQA SchemesElles, Fowler, Hastings, Müller
Reference systems & proceduresBarton, Gancberg
Validationof diagnostic tests
Matthijs, Macek
Quality Management and Accreditation
WP1.8Technical
aspects of QAu
WP1.2QAu database
WP1.6Referencematerials
WP1.7Diagnostic validation
WP1.1Website, overall
activities
Overall Objective
To measurably improve the quality
of management and provision
of genetic testing services
for the benefit of the patients,
laboratory accreditation considered to be the norm.
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
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 validationAdditional benefits
•Publicize and reward effort and investment in QA•Educate public and regulators on the
importance of quality issues
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 document for 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)
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
Workshops - Training on QAu and accreditation
participated 8 xparticipated 6 xparticipated 5 xparticipated 4 xparticipated 3 xparticipated 2 xparticipated 1 x
no participation
http://www.eurogentest.org/unit1/workshops.xhtml
Aims: Harmonizing existing EQA schemes for genetic testing in Europe:
• Expand opportunities for 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
Genetics External Quality Assessment (EQA)
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
EQA
Biochemical7 schemes centres9 EQAs2 pilot EQAs266 labs18 countriesNew national representatives
MolecularNew EQA: MODY
2 pilot EQAs: MD & mutation screening Inclusion of CF synthetic control
materials 464 labs41 countries
CytogeneticsCEQA scheme- 2 full EQAs + 2 pilotsInternet based EQA and registration70+ labs28 European countriesNational schemes expanding repertoire
Genetics External Quality Assessment (EQA)
Progress:• EQA expansion through EUGT• New Participants for all EQAs
Biochemical ERNDIM Guidelines• Guidelines for investigation of hyperammonaemia• White cell preparation for cysteine• 5 guidelines in preparation
Guidelines• Published: ERNDIM & EUGT website
Genetics External Quality Assessment (EQA)
Detail:• Best practice guidelines
CytogeneticsEuropean 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
MolecularBest Practice Guidelines• 3 Best Practice meeting in 2007• MODY Guidelines published• Draft SCA & BRCA guidelines
EQA
Progress:• International symposia on RM in genetic testing • Guidance document for use of RMs in Genetic Testing
• Guidelines for the production of further CRMs• Field trials (in collaboration with EU CF Network) for 2
different commercial multiplex RMs for CF testing • Workshop on the implications of the IVD Directive
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
Diagnostic Validation
Aims:
• Diagnostic validation of available methods, with the
aim of facilitating their implementation
• Evaluation of the performance of commercial kits and /
or technologies
• Define criteria for and establish a standard procedure
for analytical / technical evaluation of test methods
• Establish a draft guideline “Minimum acceptable
standards for diagnostic validation” of molecular tests
and commercial kits
• Provide training in validation by experts
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)
Diagnostic Validation
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?
Quality Assurance Summary
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
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 [email protected]
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.
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…
Diagnostic Validation
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
Quality Control Materials
Genetics External Quality Assessment (EQA)Plans for 2008:
Establish a governance structure for CEQA, EMQN and ERNDIM
Determine poor performance criteria
Organize Best Practice Meeting on Quality Management of EQA schemes
Prepare for accreditation: draft guide to accredit EQA schemes relating to existing standards
Cytogenetics EQA Molecular EQA Biochemical EQANew schemes for - Acute leukaemia - PIDPilot resulted in two full EQA schemes (prenatal and postnatal)
New schemes for - Von Hippel Lindau- Connexin 26
New Pilot schemes for - Lysosomal enzymes- CDG syndromes
Establish a Steering Committee Best Practice Guidelines- Cardiac genetics- 2 others (open call)
Best Practice Guidelines Organisation of testing services at a national level
Open cytogenetic EQA to all labs. Discussions with German EQA scheme for future collaborations
Development of standard methodologies and reporting procedures
Prepare for accreditation in 2009 Accreditation in 2008 Training workshops
Pilot a self-assessment system online (for CPD)
Link directory analytes to diseases in Orphanet database
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