The European Society
of Human Genetics

EuroGentest Committee - EGT

EuroGentest Committee

The ESHG-EuroGentest  Committee aims to focus on quality aspects, professional guidelines, expert training and dissemination of clinical expertise in clinical genetics and clinical laboratory genetics. It is organized in four Subcommittees (SC), Quality SC, Professional guidelines SC, Training SC and Dissemination SC. 

Committee members

Chair and ESHG exec board liaison:    Gert Matthijs
Strategic issues: Gert Matthijs
Political liaison:Milan Macek Jr.
Horizon projects liaison:Holm Graessner
Quality SC Chairperson:Sandi Deans
Professional guidelines SC Chairperson:Gert Matthijs
Training SC Chairperson:Els Dequeker
Dissemination SC Chairperson:Luca Lovrecic

Subcommittee members, aims and activities

The Quality subcommittee
(QSC) will continue to work on issues that affect quality and competence of the diagnostic genetic and genomic laboratories, clinical genetics and genetic counselling clinics. The aims of the subcommittee are to:

  • Identify gaps in quality issues within diagnostic and clinical services;
  • Identify where there can be harmonisation within genomics and genetics;
  • Give recommendations for those countries where no guidance is currently available;
  • Provide oversight, monitoring and review of governance of genetics and genomics by national bodies.

The objectives are to:

  • Promote harmonisation with EQA providers to reduce poor performance in genetics and genomics;
  • Establish educational EQAs for genetics, e.g. genetic counselling;
  • Harmonize Quality Management (QM) and service provision within genetics and genomics;
  • Address quality issues in new-born screening programs;
  • Explore quality issues relating to International databases of genetic variants;
  • Provide advice and support for EQA providers in dealing with contentious appeals/complaints if required by co-opting specialists;
  • Explore quality issues including bioinformatics and clinical interpretation of genomic variation.


Sandi Deans (Chairperson),  Christi van Asperen, David Barton, Els Dequeker, Mick Henderson, Victor Kožich, Isabel Marques Carreira, Katrina Rack, Thomy de Ravel.

The Professional Guidelines subcommittee
(PGSC) will coordinate the generation of professional guidelines in the realm of 'quality in genetics' . The aims and objectives of the subcommittee are to:

  • Identify the specific needs for professional guidelines;
  • Liaise within the genetic committee and with other disciplines, for the generation of these guidelines;
  • Organizing working groups to prepare these guidelines, as necessary;
  • Liaise with the PPPC for the ethical and societal aspects of such guidelines;
  • Ensure the dissemination of these guidelines. 


Gert Matthijs (Chairperson), Pascal Borry, Jayne Hehir-Kwa, Mike Morris, Peter Robinson

The Training subcommittee
(TSC) will continue to train professionals in genetics on different aspects of QA and good practice. The aims of the subcommittee are to:

  • Organise the training to improve the quality of all genetic centers and laboratories
    - quality management and good practice in genetics
    - specific laboratory expertice
    - clincal diagnostic activities
  • Collaborate with other professional and other associations to organize training for other medical professionals . 


Els Dequeker (Chairperson), Loreto Añorbe Diaz, Konstantin Miller, Hans Scheffer, Heather Skirton, Uwe Zimmermann

The Dissemination subcommittee
(DSC) will coordinate various activities, encouraging communication between partners and the organization of specific events to promote the dissemination of information to the ESHG-EuroGentest members, interested colleagues, other professionals, policy makers and general public using diverse strategies and tools (web page, social media). Provision of practically useful resources and databases should be continued to attract the expert and lay audience. Interactions through social networks will be stimulated, for purposes of informing the public on not only the most current activities, but also for purposes of raising awareness of various aspects and updates on genetic testing overall.

The main objectives are:

  • to promote EUGT-ESHG Committee activities and its visibility
  • to coordinate dissemination of planned actions, prepared documents and collected results of other EUGT-ESHG subcommittees
  • to update web page information and actively stimulate interaction through social networks


Luca Lovrecic (Chairperson), Cor Oosterwijk, Aleš Maver

Information Leaflets for Patients and Families

The EGT Committee has in the past produced a series of 15 leaflets providing general information for patients and families about genetics and genetic testing, in multiple languages, which were previously available on

These leaftlets are now being updated and are made available on the ESHG website. For the time being, only leaflets in English are ready for download. More languages will be added as available.