Coordinator: JeanJacques Cassiman

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• Co-ordinator Jean-Jacques Cassiman
• K.U. Leuven, Belgium

By Rebecca Kent
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Quality issues in Europe
Lack of harmonized and standardized EQA Lack of
reference materials Limited number of accredited
labs
Limited analytical and clinical validation of
tests
Insufficient counseling
IPTS report 2003
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(No Transcript)
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Network of Excellence EUROGENTEST
Unit 5  
Unit 2      
Unit 1      
Unit 4  
Unit 3    
Unit 6  
Management team
Research Emerging technologies
Ethical, Legal, Social Issues
Information Data bases
Public Health Clinical Genetics
Education/ Information
Quality Management
WP Coordination IPR issues Fellowships Health
Policy issues Expert Laboratories network
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Relation between the units, activities
and workpackages
Unit 1 Quality Management and Accreditation /
Certification of Genetic Testing Elisabeth
Dequeker (BE) / Michael Morris (CH)
Activity 1.5 Generic method SOP Gert
Matthijs (BE) Milan Macek (CZ)
Activity 1.4 Reference Systems and
Procedures David Barton (IE) Christof Klein (BE)
Activity 1.1 Quality Procedures Elisabeth
Dequeker (BE) Michael Morris (CH)
Activity 1.3 Quality Assessment Schemes Rob
Elles (UK) Clemmens Müller (DE) Ros Hastings (UK)
Activity 1.2 QAu Database Elisabeth Dequeker
(BE) Michael Morris (CH)
WP 1.6
WP 1.7
WP 1.1
WP 1.2
WP 1.3 Molec
WP 1.4 Cyto
WP 1.5 Bioch
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Unit 2 Information sources and bio-informatics
tools Ségolène Aymé (FR) / Bruno Dallapiccola (IT)

Activity 2.1 Harmonization of databases on
genetic testing Ségolène Aymé (FR) Bruno
Dallapiccola (IT) Andrew Devereau (UK)
WP 2.2
WP 2.3
WP 2.1
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Unit 3 Clinical Genetics, Community Genetics and
Public Health Ulf Kristoffersson (SE) / Joerg
Schmidtke (DE) / Helena Kääriäinen (FI)
Activity 3.1 Quality Genetic Counseling Helena
Kääriäinen (FI) Jorge Sequeiros (PT)
Activity 3.2 HTA and Clinical validation Ulf
Kristoffersson (SE) Joerg Schmidtke (DE)
WP 3.2
WP 3.1
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Unit 4 Ethical, Legal, Social Policy
Issues Herman Nys (BE) / Jorge Sequieros (PT)
Activity 4.2 Public Professional Policy
Issues Jorge Sequieros (PT)
Activity 4.1 Ethics Kris Dierickx (BE)
Activity 4.3 Legal Issues, European Integration
Herman Nys (BE)
WP 4.2
WP 4.1
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Unit 5 Research and Emerging Technologies Bert
Bakker (NL) / Gert Matthijs (BE) / Milan Macek
(CZ)
Activity 5.1 Analytical/ Technological Validatio
n Gert Matthijs (BE) Milan Macek (CZ)
Activity 5.2 Technical Evaluation/
Implement Network Bert Bakker (NL)
Activity 5.3 IPR Issues Geertrui Van
Overwalle (BE)
WP 5.1
WP 5.2
WP 5.3
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Unit 6 Education Alastair Kent (UK) / Domenico
Coviello (IT)
Activity 6.1 Education Training of the
public Alastair Kent (UK) Domenico Coviello
(IT)
Activity 6.2 Education Training of the
professionals Alastair Kent (UK) Domenico
Coviello (IT)
WP 6.1
WP 6.3
WP 6.2
WP 6.4
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Workpackages
UNIT 1 Quality Management
WP 1.1 Harmonize Quality Systems WP 1.2
Current status of Quality Assurance in EU WP 1.3
EQA for Molecular Genetic Testing WP 1.4 EQA
for Cytogenetic Testing WP 1.5 EQA for
Biochemical Testing WP 1.6 Reference
Measurement Procedures and Reference Materials WP
1.7 Procedures for validation of methods and
procedures
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Workpackages
UNIT 2 Bioinformatics
WP 2.1 Harmonize Information databases WP 2.2
Map Bioinformatics requirements WP 2.3
Review Bioinformatics tools
UNIT 3 Clinical genetics and technology
assessment
WP 3.1 Quality of genetic counselling WP 3.2
Clinical validation of genetic testing
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Workpackages
UNIT 4 Ethical, Legal and Social Issues
WP 4.1 Guidelines for genetic testing WP 4.2
Legal rights of Patients/ users of genetic
services
UNIT 5 R D
WP 5.1 Validation of methods and
technologies WP 5.2 Pilot beta test sites WP
5.3 IPR issues in genetic testing
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Workpackages
UNIT 6 Eduction
WP 6.1 Information for the public WP 6.2
Information for health professionals WP 6.3 PR
issues WP 6.4 EUROGENTEST website
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Themes common to all
Quality Services
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• Deliverables
• Guidelines and recommendations for quality
  assurance of genetic
• testing and counseling
• Availability of quality reviewed information
  (what, how, where)
• about genetic testing
• Training of laboratory, medical, non-medical
  personnel
• Structuring and harmonization of testing in
  Europe
• Networking and reference laboratories
• International collaboration (OECD, ACMG, IFHGS)
• Evaluation of impact of procedures on society
  (economic, social,
• legal)

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• Objectives of the different workpackages

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WP 1.1

• 11) Harmonize the quality systems and
  accreditation/certification requirements for
  genetic testing services and EQA schemes in
  Europe
• determine the specific requirements for
  accreditation of genetic testing services.
• develop and disseminate guidelines.
• organize Training Courses and Workshops for
  genetic testing services undertaking
  accreditation, scheme organizers and
  quality assessors.
• 2) Analyze the cost of implementing and
  maintaining a quality system and organizing EQA
  schemes.
• 3) Encourage and facilitate the harmonious
  accreditation of the expert laboratories
  participating in EUROGENTEST.

WP 1.2

• (1) Determine the current status of Quality
  Assurance (QAu) in European Genetics
  Laboratories.
• (2) Create a DataBase of Genetic Testing
  Laboratories.
• (3) Make QAu information of European laboratories
  publicly available
• to disseminate information to potential
  partners and/or consumers (patients, doctors,
  laboratories, support associations, companies)
  to facilitate informed choice of a medical
  genetics laboratory.
• to encourage participation in QAu by providing
  added value for participating laboratories.
• to increase public confidence by increasing
  transparency and public awareness of the
  investment in quality assurance.

UNIT 1
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WP 1.3
1) To work towards harmonizing existing EQA
schemes for Molecular Genetic (MG) Testing in
Europe. 2) To expand opportunities for molecular
genetic testing laboratories in EU25 to
participate in EQA. 3) To meet the developing
needs for quality systems for new services and
new technologies. 4) To link Internal Quality
Control and EQA through consensus discussions on
best practice.
WP 1.4
1) To work towards harmonizing existing EQA
schemes for Cytogenetic Testing in Europe. 2) To
expand opportunities for Cytogenetic testing
laboratories in EU25 to participate in
EQA. 3) To link Internal Quality Control and EQA
through consensus discussions on best practice.
WP 1.5
1) To expand opportunities for Biochemical
Genetic testing laboratories in EU25 to
participate in EQA. 2) To link Internal Quality
Control and EQA through consensus discussions on
best practice.
UNIT 1
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WP 1.6

• 1) To identify and describe the present and
  future needs for Reference Materials (RM) and
  Reference Measurement Procedures (RMP) for
  genetic testing.
• 2) To set priorities for the development of new
  Reference Materials and new Reference
  Measurement Procedures (which combine to define
  Reference Measurement Systems).
• 3) To support implementation of traceability for
  routine diagnostic methods to described RMs
  and/or RMPs.
• 4) To support implementation of traceability for
  In Vitro Diagnostic Devices (IVDs) to described
  RMs and/or RMPs with the respective
  manufacturers.
• 5) To support improvement of quality and
  harmonization of genetic testing by definition of
  guidelines for the development of Reference
  Measurement Procedures and Reference Materials
  in this field.
• 6) To build an enduring network, involving all
  the key stakeholders in Reference Measurement
  Systems development.
• 7) To disseminate and leverage the knowledge
  gained during the CRMGEN project into practical
  applications in diagnostic molecular genetics.

WP 1.7
General objective Procedures and guidelines for
the validation of methods and technologies 1) Make
an inventory of methods to be
validated. 2) Establish and issue guidelines for
the validation of diagnostic tests and
(commercial) kits. 3) Draft generic method SOPs
and generate validation files in a pilot, in
particular for DHPLC for mutation detection for
a number of genes/disorders. 4) Make these
documents widely available to user
groups. 5) Promote and survey the use of standard
methods and tests. 6) Training in validation.
UNIT 1
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WP 2.1

• The first major objective is to fill in the gaps
  in information resources for all stakeholders.
  The specific objectives are (1) to list the
  information pieces which are judged indispensable
  by all stake holders (2) to define their format
  and procedure for data collection and validation
  (3) to produce the information and release it in
  a friendly-to use format (4) to evaluate the
  impact of the information on test referrals
  appropriateness and test consumption.
• 2) The second major objective is to avoid
  duplication and ensure consistency and
  inter-operability of databases in the field of
  genetic testing. The specific objectives are (1)
  identify overlapping resources through the report
  produced by objective 1 (2) identify
  discrepancies in format which constitute
  obstacles to interoperability (3) reach
  agreement on solutions (4) implement solutions.
  The databases, which will be considered, are
  databases on genetic diseases, genetic tests,
  mutation databases and sequence databases.
• 3) The third major objective is to improve the
  quality of existing information services. Many
  groups have produced guidelines for quality
  standards in health information on the web. It is
  time to transpose these guidelines in the Human
  Genetics Database field and to promote their
  respect by the database producers. The specific
  objectives are (1) to produce a set of
  recommendations about quality standards, adapted
  to information resources on genetic testing in
  Europe, (2) to evaluate the available information
  resources against these criteria in collaboration
  with the responsible bodies, (3) to support the
  necessary evolution toward higher quality of the
  databases not fulfilling all criteria.

UNIT 2
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WP 2.1
The provision of genetic testing involves
multidisciplinary teams that are involved in
distinct stages of genetic service provision. At
specific stages of the testing process, web-based
bioinformatics tools may be used. It is likely
that many tools and resources of high quality
will already have been developed by individuals
and organizations but these are currently not
widely known by the international genetic testing
network. The specific objective of this
workpackage is to map the bioinformatics
requirements of the network against existing
bioinformatic tools.
WP 2.3

• The overall objective is to determine the quality
  of the bioinformatics tools that are required by
  the genetic testing network and how they may be
  validated for their use in diagnostics.
• It is apparent that many of the bioinformatics
  tools that are currently used by both the
  clinical and laboratory sections of genetics
  centers are not assessed for quality or validated
  for use in a diagnostic environment. We will
  identify experts in healthcare, academic and
  commercial institutions who can form a review
  panel for assessment of these bioinformatics
  tools.

UNIT 2
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WP 3.1

• The main objective of this WP is to improve and
  harmonize the quality of genetic counseling in
  connection with genetic testing in the EU and in
  particular.
• 1) To develop uniform European standard
  recommendations for genetic counseling (including
  consent process) in connection with genetic
  testing.
• 2) To create tools for assessing the quality of
  genetic testing.
• 3) To collect information on gaps in services and
  educational needs in this field for the use of
  WP17.

WP 3.2
To establish procedures by piloting a
representative number of European countries,
recommendations, and guidelines for clinical
validation of genetic testing by 1) defining
the clinical utility of genetic testing 2)
investigating access to and utilisation of
genetic services 3) evaluating the impact of
genetic services on public health policies and
economics 4) investigating criteria and
mechanisms to maximize the output of genetic
services, given limited resources.
UNIT 3
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WP 4.1

• To make an inventory of research concerning
  societal and ethical aspects of genetic testing
  and counselling and to map this i.e. listing
  Universities, T.A. Institutions and various other
  research centers and/or experts and stakeholders
  and their organizations.
• 2) To make an inventory of existing guidelines on
  different forms of genetic testing in Europe and
  to make this information accessible to fellow
  researchers.

WP 4.2
1) To develop a questionnaire in order to realize
later objectives like 2. and like the readiness
of the Member States and the NAS to implement the
European Convention on Human Rights and
Biomedicine. 2) To evaluate the interpretation
and the application of the rights of
patients/users of genetic services contained in
the European Convention on Human Rights and
Biomedicine by the Member States and the NAS.
UNIT 4
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WP 5.1

• General objective validate different methods and
  technologies and generate SOPs.
• 1) Create working groups for the validation of
  methods and technologies.
• 2) Test the drafted standard program for
  analytical/technological validation in a pilot
  project, for example with respect to a) MLPA for
  deletion/duplication testing in a number of
  gene/disorders and b) for semi-automated
  techniques for DNA-extraction. Prepare SOPs and
  guidelines for these tests for future
  distribution.
• 3) Foster introduction of novel methods and
  technologies into the market.

WP 5.2
General objective compile an inventory of new
and emerging technologies relevant to genetic
testing prioritize in order of interest and in
need for further evaluation by this
Unit. 1) Explore Beta testing and technology
transfer issues. 2) Define a master technical
evaluation/implementation program for new
technologies including draft protocols for beta
testing. 3) Test the master program and the draft
protocols in a pilot beta test project for a key
exemplar.
WP 5.3
1) On project guidance - raise awareness of the
importance (social, economic, industrial and
scientific) of IPR issues within the
Network - inform about available expertise,
policies and practices related to the protection
of knowledge. 2) Basic research - establishment
of a database of European diagnostic gene
patents. - development of a database of
proprietary technologies and patents within the
Network. Analysis of the scope of claims in
selected top-50 diagnostic gene patents in
European and Network database.
UNIT 5
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WP 6.1

• 1) To map the range of publicly available
  information for patients and the public relating
  to the provision of genetic testing and the
  organizations which provide this.
• 2) To undertake the systematic evaluation of this
  selected information.
• 3) To identify common (cross EU) elements, and
  those which are specific to individual MS.

WP 6.2
1) Identify national coordinators supported by a
professionals advisory panel in as many MS as
possible. 2) Undertake a survey to identify
relevant initiatives in genetic
education. 3) Convene a meeting among the
national coordinators to identify the relevant
professional groups, to analyse materials, and
define the baseline competences. 4) Write a
report summarising the conclusion.
WP 6.3
The Eurogentest PR program intends to become the
key driver of informed/positive opinion on
genetic testing throughout the community. To
achieve the above objective, Eurogentest will
initiate and run a coordinated communications
program throughout the member states aimed at key
stakeholders.
WP 6.4
1) To provide an intranet facility for the
dissemination of information between the
participants of EUROGENTEST. 2) To provide a
website which is able to provide public, partners
and participants users with the information they
seek and which will remain a portal for the
dissemination of information after the
EUROGENTEST project has been completed. 3) To
ensure synergy between the Orphanet database and
the EUROGENTEST Network of Excellence
Website. 4) To manage and assist the website
based activities of the EUROGENTEST work packages
into reaching their full potential through the
EUROGENTEST website.
UNIT 6
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ma 1

• 1) Implement successfully the projects proposed
  coordination, management and governance
  structure.
• 2) Provide logistic support for the educational
  and training activities of the different .
• 3) Enhance the strength of the NoE by attracting
  additional complementary partners and additional
  funding through European, national or private
  channels.

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By Rebecca Kent