EuroGentest Committee
The ESHG-EuroGentest committee focuses on quality aspects for genetic services, preparing professional guidelines related to genetic diagnostics, providing information and representing the interests of the society at international forums related to genetic services. The EuroGentest committee also prepares the policy and training activities of ESHG in relation to IVDR.
Committee members
| Chair and ESHG exec board liaison: | Gert Matthijs | |
| Policy liaison: | Milan Macek Jr. | |
| Member | Christi van Asperen | |
| Member | Isabel Maria Carreira | |
| Member | Christophe Cordier | |
| Member | Donna Darmanin | |
| Member | Els Dequeker | |
| Member | Jenni Fairley [GENQA] | |
| Member | Weronika Gutowska-Ding [EMQN] | |
| Member | Thomas Liehr | |
| Member | Aleš Maver | |
| Member | Joana Barbosa Melo | |
| Member | Michael Morris | |
| Member | Katrin Õunap | |
| Member | Simon Patton [EMQN] | |
| Member | Rebecka Ann Pestoff | |
| Member | Christine Vianey-Saban [ERNDIM] | |
| Member | Nicola Wolstenholme [EMQN] |
Aims and activities
Quality of genetic services
EuroGentest will continue to focus on issues that affect the quality and competence of the diagnostic genetic and genomic laboratories, biochemical genetics, clinical genetics and genetic counselling clinics. The aims are to:
- Identify gaps in quality issues within diagnostic and clinical services, including aspects of equity, diversity and inclusivity;
- Identify opportunities for harmonization within genomics and genetics;
- Provide 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 harmonization between EQA providers to reduce poor performance in genetics and genomics;
- Develop consensus on issues related to Quality Management (QM) and service provision within genetics and genomics;
- Explore quality issues including bioinformatics, clinical interpretation of genomic variation and International databases of genetic variants.
Professional Guidelines
EuroGentest will coordinate the generation of professional guidelines in the realm of 'quality in genetics'. The aims and objectives of the subcommittee are to:
- Identify specific needs and expectations for professional guidelines;
- Liaise with stakeholders and with other disciplines, for the generation of these guidelines;
- Organizing working groups to prepare these guidelines, as necessary;
- Liaise with the Policy and Ethics Committee (PEC) for the ethical and societal aspects of such guidelines.
Education
EuroGentest wants to train professionals in genetics on different aspects of QA and good practice. In collaboration with the Education Committee (EduComm) and other organisations, we want to focus on:
- Quality management and good practice in genetics;
- Specific laboratory expertise;
- Clinical diagnostic activities.
Latest event
EuroGentest online seminar on April 1st, 2025
The EuroGentest online seminar took place on April 1st, 2025.
The programme consisted of brief presentations providing an update on burning issues in clinical and laboratory genetics.
The seminar covered:
- An IVDR update and the current state of European genetic laboratories, based on our ESHG-IVDR survey results;
- Clinical and technical quality assurance challenges, using rapid exome sequencing in neonatal intensive care;
- An overview of the current status of professional recognition in genetics (EBMG);
- Specific EuroGentest projects aimed at promoting best practices in our field.
The full program and speaker/chair details can be found here.
Projects
IVDR-related activities
The In Vitro Diagnostic Regulation (IVDR) presents a major challenge to genetic diagnostic laboratories especially on the use of in-house developed tests when no CE-IVD kit is commercially available for the same diagnostic application. We are concerned that the regulation may adversely affect the genetic laboratories, in terms of the freedom to use in house tests and the incentive to develop novel diagnostic applications.
A Task Force on IVDR aims to share information with diagnostic laboratories as well as to make clear to the community and regulatory authorities that there are certain concerns for genetics in relation to the implementation of the IVDR. ESHG has joined BioMed Alliance, a group of European medical societies active in lobbying at the European level. Two members of EuroGentest have joined BioMed Alliance' Task Force on In Vitro Diagnostics.
The good news is that the European Commission has taken actions to ensure the availability of in vitro diagnostics, and will assess the impact of the legislation on devices responding to special needs (referred to as the ‘orphan devices’) and on the development of innovative devices in Europe. For once, the Commission has also indicated that special attention shall be given to costs and administrative burden stemming from the implementation of IVDR.
Harmonization in genetic counseling
Harmonization in genetic counselling presents a complex challenge, particularly as aspects of quality in clinical practice are often more difficult to evaluate and enforce than in laboratory settings. Consequently, developing comprehensive guidelines can be daunting. One practical solution to initiate this process is the creation of a well-structured questionnaire for national societies. This would facilitate the collection of data on current practices across different regions. In close collaboration with the European Board of Medical Genetics (EBMG), we aim to update previous reports and publish findings regarding the current state of genetic counselling in Europe.
Collection of external quality assessment data
Harmonisation of the definition among external quality assessment (EQA) providers is necessary: for this purpose, having representatives from all of them and recruiting them will be the first focus of this workgroup. The second objective will be to define how to act on performance: given that the ESHG is a professional body, and all national societies are part of it, this issue could and should be addressed.
Update to the guidelines for diagnosis of FMR1-associated disorders
Best practice guidelines provide a reflection of what peers think about good practice in diagnostics and quality management. Professional guidelines are useful as a basis for accreditation of laboratories and may be used as a reference to good practice and standard-of-care in juridical disputes. A working group has been created to update the guidelines for molecular testing and genetic reporting of Fragile X syndrome (FXS). The available document dates back to 2014, and the technique that is mostly used to test the FMR1 expansion has now changed to be based on triplet repeat PCR.
Reporting of genome-wide diagnostic tests in the prenatal setting
We plan to produce recommendations on reporting genome-wide diagnostic tests in prenatal settings. This will be a joint endeavour with the International Society for Prenatal Diagnosis (ISPD) and with the Policy and Ethics Committee (PEC) of ESHG. Given that ISPD is a global society, the aim will be to develop a globally applicable guideline. The work may also incorporate recommendations on the type of tests to apply and the related indications.
EuroGentest resources
Guidelines, recommendations and publications prepared by EuroGentest.
| Document | Citation | Publication |
| Recommendations for whole genome sequencing in diagnostics for rare diseases | Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Recommendations for whole genome sequencing in diagnostics for rare diseases. European journal of human genetics. 2022;30(9):1017-1021. | Link |
| Recommendations for reporting results of diagnostic genomic testing | Deans ZC, Ahn JW, Carreira IM, Dequeker E, Henderson M, Lovrecic L, Õunap K, Tabiner M, Treacy R, van Asperen CJ. | Link |
| Regulatory landscape of providing information on newborn screening to parents across Europe | Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, Zeyda M; Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee. | Link |
Guidelines for diagnostic next-generation sequencing | Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P. | Link |
| Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) | Claustres M, Kožich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ, Barton DE; European Society of Human Genetics. | Link |
Information Leaflets for Patients and Families
The EuroGentest project (2018-2015) has 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 www.eurogentest.org.
These leaflets are now 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.
Contact us
Email: eurogentest(at)eshg.org