1. Activities in Quality Management and Accreditation of Genetic Testing Services
Ros Hastings
11/13/2018

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

3. 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
WP1.5
Biochemical
EQA
WP1.4
Cytogenetics EQA
WP1.3
Molecular
WP1.9
QM of EQA
schemes
WP1.2
QAu database
WP1.6
Reference
materials
WP1.7
Diagnostic
validation
WP1.8
Technical
aspects of QAu

4. Overall Objective To measurably improve the quality of
management and provision
genetic testing services
for
the benefit of the patients,
laboratory accreditation considered to be the 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

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
EQA: in this way, we were able to confirm over 90% of declared EQA participations. According to our policy on confidentiality, the database contains no data about results in EQA, but only participation.Informal ring trials and interlaboratory exchanges have not been included.
Status ‘underway’ for accreditation was not validated. Labs that declare this status for several years will be asked for more precise information. .
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

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 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)

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

10. Genetics External Quality Assessment (EQA)
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
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)
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
EQA C E Q A
Cytogenetic European
Quality Assessment
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 C E Q A
Cytogenetic European
Quality Assessment
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:
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
PW/AS: Highest priority disease for which no RM is currently available; in fact 2 diseases for which same assay is used)

14. 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

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

19. 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

20. 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 →
Or contact your national Orphanet partner.
What does it cost me to join?
Nothing.
More questions ?
Contact

21. 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
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.

22. 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…

23. 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

24. C E Q A Cytogenetic European Quality Assessment
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 EQA
New schemes for
- Acute leukaemia
- PID
Pilot resulted in two full EQA schemes
(prenatal and postnatal)
- 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)
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 C E Q A
Cytogenetic European
Quality Assessment

25. 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