Objectives

The main objective is to improve and harmonize the quality of genetic counselling in connection with genetic testing in the EU and in particular 1) to collect information on genetic counselling practices and regulations in different parts of Europe; 2) to define tools for assessing the quality of genetic counselling; 3) to create standard recommendations for genetic counselling in connection with genetic testing for endorsement by national genetic societies.

The overall objectives are to establish guidelines for a clinically validated use of genetic testing by (1) defining clinical utility criteria of genetic testing, (2) investigating access to and utilisation of genetic services, including the utilisation of genetic testing and services in primary and secondary care (3) initiating an international collaborative network, including developing countries with signed S&T co-operation agreements, in order to promote internationally shared quality standards for clinical utility assessment, and (4) investigating criteria and mechanisms to maximize the output of genetic services, given limited resources.



Up to month 30, the focus of this work will be on Mendelian, mostly rare, disorders. Genetic testing in the context of complex disorders will be dealt with thereafter.

The overall objective is to contribute to a systematic, evidence-based evaluation process of clinical utility of genetic tests in transition from research into mainstream practice with a focus on primary and secondary care. We will contribute to efforts to develop an evidence-based approach for the systematic evaluation of clinical utility of genetic tests that have a potential for broader clinical application and help to close existing knowledge gaps.

1. Compare definitions of genetic testing provided by a number of organizations.
2. Compare these definitions with the recommendations issued and practices pursued by some of these organizations.
3. Identify existing trends among those definitions, according to the aims, purposes and field of action of those organizations.
4. Compare definitions of genetic testing contained in European and Member States legislation with that from other countries (USA, Canada, Japan and others).
5. Compare the existing legislation regarding genetic testing based upon those definitions.
6. Propose a working definition of genetic testing for EuroGentest.
7. Contribute to the discussion of consensus definitions of genetic testing and assess its global applicability.