Objectives

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.

The importance and implications of genetic tests place a heavy burden of responsibility on the services that perform them, to ensure that the results are correct.

EuroGentest Unit 1 aims to harmonize quality standards in medical genetics throughout Europe, and to encourage and assist medical genetic services in improving and maintaining their quality. These aims will be achieved via a number of specific activities and work packages which are described in these pages.

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

• 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.

• 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.

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.
5. To work towards sustainable structures for MGEQA
6. To contribute to improved lab performance.

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 provide a European EQA for Cytogenetics.
4. To link Internal Quality Control and EQA through consensus discussions on best practice.

• 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.

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

1. Establish and issue guidelines for the validation of molecular diagnostic tests and (commercial) kits.
2. Training in validation.
3. 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)
4. 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
5. 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.

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

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