Joint expert meeting WP7&8 (Unit 2) EUGT2 report

Joint expert meeting WP7&8 (Unit 2) EUGT2 report

Zaandam (The Netherlands)

November 2011

A productive meeting with 26 enthusiastic experts was organized by the researchers from Workpackage 7&8 (Unit 2) of Eurogentest2. Subjects of discussion during the meeting were quality in genetic counselling for pre-symptomatic testing and best practice for provision of clinical genetic service.

Workpackage 8 leader Martina Cornel opened with an overview of goals of EUGT2 and the objectives of the meeting. This was followed by three presentations of experiences with testing for monogenetic subtypes. The presentations included examples from oncology (Ignacio Blanco), cardiology (Johan Brandt) and MODY (Maggie Shepherd) and showed that different fields ask for different approaches and have their own opportunities and threats when it comes to good genetic services. Marcel Nelen then presented his experiences with Next Generation Sequencing (NGS) for diagnostics, which described the strengths and weaknesses of the method and gave rise to a discussion about informed consent.

After an entertaining evening programme and a good night’s sleep, two parallel workshops were chaired by Heather Skirton (WP7), Ulf Kristofferson and Martina Cornel (WP8) with the goal of describing principles of good practice for the two Workpackage subjects. Main themes discussed were: principles, objectives, logistics and content of genetic counselling for pre-symptomatic testing and informed consent for NGS, cooperation between different actors in genetic services and informing relatives.


A more detailed report of the discussions and conclusions will soon be available.

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