Lab Quality

Objectives

Summary for Unit 1: Quality Management and Accreditation/Certification of Genetic Testing

Genetic tests have particular importance for several reasons:

They have implications not only for the individual being tested, but also for their relatives;
The results are valid for life, as every individual’s genetic makeup is determined at the moment of conception;
The results can be predictive of serious or fatal disorders in individuals who are still healthy;
Prenatal test results can determine the fate of a pregnancy.

Unit 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

To develop, review and disseminate quality procedures and guidelines to further improve the harmonization of the quality systems for genetic testing services and EQA schemes in Europe. To collaborate with other organizations (including OECD, ISO, UK NEQAS, ...). To interact with all the Unit 1 WPs and with other Unit and WP leaders in EuroGentest. Focus for next 18 months:

reporting guidelines
diagnostic validation guidelines
OECD - EuroGentest QAu guidelines for MGT
quality procedures from the first two years of workshops on laboratory accreditation

Review and analyse QAu information for pre-implantation diagnosis (PGD) in European genetic laboratories.

To harmonize Unit 1 objectives by providing an up-to-date and informative Unit 1 website section on the EuroGentest site.
To facilitate and strengthen internal networking.
To create links of activities and avoid waste of resources.
To provide technical and other support to all Unit 1 activities.

Workpackage 1.2 Database in QAu

Create and maintain a comprehensive QAu database of European genetic testing laboratories, and make this publicly available.
Review different gene- and disease-specific databases with respect to mutation nomenclature in molecular genetic reporting; bring together key players involved in producing parallel guidelines, with the aims of providing a portal to existing resources and of harmonizing the approaches to mutation nomenclature in reporting.

Workpackage 1.3 Organize and harmonize EQA for Molecular Genetic Testing

To work towards harmonizing existing EQA schemes for Molecular Genetic (MG) Testing in Europe.
To expand opportunities for molecular genetic testing 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 for MGEQA
To contribute to improved lab performance.

Workpackage 1.4 Organize and harmonize EQA for Cytogenetic Testing

To work towards harmonizing existing EQA schemes for Cytogenetic Testing in Europe.
To expand opportunities for Cytogenetic testing laboratories in EU25 to participate in EQA.
To provide a European EQA for Cytogenetics.
To link Internal Quality Control and EQA through consensus discussions on best practice.

Workpackage 1.5 Organize and harmonize EQA for Biochemical testing

To expand opportunities for Biochemical Genetic testing laboratories in EU25 to participate in EQA. To link Internal Quality Control and EQA through consensus discussion on best practice. Work to meet objectives

Inclusion of complete data on biochemical genetics labs in the ERNDIM web site directory.
Best practice meetings and development of poor performance criteria.
Expansion of pediatric biochemical genetic EQA in EU25.
To explore standard methodologies and standard reporting procedures.
Coordination of IntQA, EQA and accreditation.

Workpackage 1.6 Quality Control Materials

To identify the present and future needs for Reference Materials (RM) for genetic testing.
To set priorities for the development of new RM.
To support development of RM in this field.
To build an enduring network, involving all the key stakeholders in RM development and use.

Workpackage 1.7 Diagnostic Validation

General objective: Procedures and guidelines for the validation of methods and technologies.

Establish and issue guidelines for the validation of molecular diagnostic tests and (commercial) kits.
Training in validation.
Define criteria for and establish a standard program for analytical/technical evaluation of methods:
- a) DNA extraction methods
- b) MLPA
- c) CSCE
- d) Others (Link to Unit 5)
Diagnostic validation of available methods (for example, commercial or developed by Unit 5), with the aim of facilitating their implementation by diagnostic laboratories:
- a) MLPA
- b) CSCE
- c) Other
Evaluation of the performance/validation of commercial kits/technologies for CFTR testing:
- a) 3 commonly used commercial kits: Inno-Lipa, Elucigene and OLA assays
- b) Luminex
- c) Others.

Workpackage 1.8 Technical aspects of QAu

To encourage and facilitate the harmonious accreditation of the expert laboratories participating in EuroGentest.
To harmonize and improve the quality systems in genetic testing services in Europe.
To work towards harmonizing quality assurance with services and organizations between Europe and the rest of the world.
To analyse, review and report the costs of accreditation and maintaining a quality management system in European genetic testing laboratories.
To collaborate with representatives of EA and national accreditation organizations and other interested parties.

Workpackage 1.9 QM of EQA schemes

Focus next 18 months :

Improve the awareness of the importance of organizing EQA scheme related to the international requirements for EQA scheme providers (ISO, ILAC, CPA, IFCC).