ESHG pre-meeting courses
With the upcoming 2027 meeting, the ESHG plans to start with a series of so-called “pre-meeting courses”. Education has a prominent place at the annual ESHG meetings. The program of the annual meeting has specific educational sessions and workshops, which give participants the opportunity to learn about the latest developments in the field of human genetics. However, this education tends to focus on the high end of developments, there seem to be less opportunities for participants seeking more basic education and training. The pre-meeting courses plan to fill this gap, i.e. offer on-site education and training in the more basic subjects in human genetics.
The ESHG Education Committee would like to know which subjects you would like to get covered during the pre-meeting courses. Please send wishes, suggestions etc. to courses@eshg.org
Introductory lectures covering the basis of the subjects, will be followed by tasks where the participants will directly apply what was learned by trying to solve practical examples.
For 2027 the following courses are planned (in-person courses only):
Thursday & Friday June 10–11, 2027
-
- Clinical NGS Data Interpretation Course (Thu & Fri)
- Unleashing the Power of Large-Scale Genomic Public Databases (Fri)
- Teach the teacher Genetics (Fri)
- On the Ethics and Strategies for Public Engagement in Genomics (Fri)
Please note that these courses are not part of the conference programme. A separate registration and payment is required.
Teach the teacher Genetics
Friday June 12 at Svenska Mässan (Conference Venue)
The increased usage of genetic diagnostic technologies by non-genetic health care professionals along with the current development of genetic therapies has created a significant demand for clinical and molecular genetic teaching. The importance of educating (future) healthcare professionals in genetics and rare diseases is also often stressed in goals of international genetic bodies, in scientific studies and by policy makers.
Whether you are a PhD student, bioinformatician, laboratory or clinical geneticist (in training), most of us are involved in genetic and rare disease teaching at some point during our career. Although the importance of teaching is more obvious than ever, professional training to develop genetic teaching skills are scarce. This highly interactive workshop is aimed at genetic & rare disease professionals early in their careers who are considering or have just started teaching, as well as more experienced professionals who have never received formal training in educational development.
We will introduce participants to the basic concepts of education development including a demonstration session of several interactive genetic teaching activities. The main goal of this workshop is to design an interactive genetic educational activity using appropriate didactic strategies. Participants will be able to work in small groups, guided by expert genetic teachers, to develop their own novel interactive genetic education activity.
Number of participants: 30 people maximum
Course instructors:
- Bregje van Bon: Clinical geneticist, Head Genomic Medicine, clinical genetics residency program director (Radboud University Medical Center)
- Arjan de Brouwer: Molecular geneticist, teaching coordinator (Radboud University Medical Center)
- Ernie Bongers: Clinical geneticist (Radboud University Medical Center)
Friday June 12, 2026
| Time |
Programme Item |
| 10.00 – 11.00 |
Introduction & basic concepts of education development (Bregje van Bon) |
| 11.00 – 11.30 |
Demonstration examples of interactive and practical genetic education (Ernie Bongers & other instructors) |
| 11.30 – 12.15 |
Teaching lab: small group assignments
Define SMART learning outcomes |
| 12.15 – 13.15 |
Lunch Break |
| 13.15 – 14.15 |
The classroom playground: small group assignments
Design out of the box! |
| 14.15 – 14.30 |
Intermezzo: The use of AI tools in education design (Arjan de Brouwer) |
| 14.30 – 14.45 |
Coffee Break |
| 14.45 – 15.45 |
Bring your teaching activity to life
Design & deliver |
| 15.45 – 16.45 |
Teach the teacher showcases
Small group presentations |
| 16.45 – 17.00 |
Evaluation and closure |
CME Credits:
The Teach the teacher Genetics, Gothenburg, Sweden 12/06/2026 – 12/06/2026 , has been accredited by the European
Accreditation Council for Continuing Medical Education (EACCME®) with 5.5 European CME credits (ECMEC®s). Each medical
specialist should claim only those hours of credit that he/she actually spent in the educational activity.
Through an agreement between the Union Européenne des Médecins Spécialistes and the American Medical Association,
physicians may convert EACCME® credits to an equivalent number of AMA PRA Category 1 CreditsTM. Information on the
process to convert EACCME® credit to AMA credit can be found at https://edhub.ama-assn.org/pages/applications.
Live educational activities, occurring outside of Canada, recognised by the UEMS-EACCME® for ECMEC®s are deemed to be
Accredited Group Learning Activities (Section 1) as defined by the Maintenance of Certification Program of the Royal College
of Physicians and Surgeons of Canada.
Course fees: EUR 100
Unleashing the Power of Large-Scale Genomic Public Databases
Friday June 12 at Svenska Mässan (Conference Venue)
This course introduces large-scale public genomic databases and computational genomics tools. Participants will explore key resources, including the GWAS and PGS Catalogs, and learn how to integrate these data with functional genomics tools.
Through practical exercises and real examples, attendees will develop the skills to access, analyze, and interpret complex genomic data and apply these approaches directly to their own scientific/clinical questions.
Particular attention is given to the integration of genomic data with electronic health records, the use of biobank-scale datasets, and the growing role of polygenic scores in understanding complex traits.
After the course, participants will receive a curated guide to essential genomic databases and tools to support independent exploration and continued learning.
Learning Goals
- Identify major large-scale public genomic databases and understand how to use them effectively accordingly to specific scientific questions.
- Apply appropriate statistical approaches when working with public genomic datasets
- Understand the value of linking genomic data with electronic health records in large-scale biobank studies.
- Understand the PGS Catalog and its applications.
- Understand the structure and applications of GWAS summary statistics and learn how to integrate them with functional and AI-driven genomics tools to effectively annotate, prioritize, and interpret GWAS findings.
Number of participants: 65 people maximum
Course organiser: Juliana Miranda Cerqueira
Co-course organisers: Karoline Kuchenbaecker, Inga Prokopenko
Friday June 12, 2026
| Time |
Programme Item |
| 13.00 – 13.10 |
Welcome and course introduction (Juliana Miranda Cerqueira, PhD candidate, University of Tampere, Finland) |
| 13.10 – 14.10 |
Session 1: Large-scale public genomic databases: making the most of these resources (Prof. Karoline Kuchenbaecker, UCL, UK)
A tour of major public genomic databases, the statistical methods used to explore them, and the challenges posed by ancestry bias – along with emerging strategies to build more inclusive and representative genomic resources |
| 14.10 – 14.20 |
Break |
| 14.20 – 15.40 |
Session 2: Biobank scale: Integrating genomics and eletronic health records (Prof. Johan Thygesen, UCL, UK)
An exploration of practical, real-world examples of how integrating electronic health records can strengthen andenrich genetic analysis |
| 15.40– 16.00 |
Coffee break |
| 16.00 – 17.00 |
Session 3: Polygenic Scores (Prof. Inga Prokopenko, University of Surrey, UK)
Applications to biobanks and eletronic health records |
| 17.00 – 17.15 |
Break |
| 17.15 – 18.15 |
Session 4: GWAS summary statistics catalog: overview and practical examples (Prof. Karoline Kuchenbaecker, UCL, UK)
An introduction to GWAS fundamentals; how to find, understand, and use GWAS summary statistics catalogs in real analyses—along with exploration tools such as FUMA GWAS and emerging AI-driven genomic resources(e.g. AlphaGenome) |
| 18.15 – 18.30 |
Wrap-Up and Q&A (Juliana Miranda Cerqueira, PhD candidate, University of Tampere, Finland) |
Course fees:
Regular: EUR 100
Students: EUR 50
Please not that for the Traine fee, a proof has to be uploaded during the registration (ie student ID).
Thursday June 10 and Friday June 11 at the Conference Venue
Considerations:
- Focus on the clinical interpretation of variants, only basics of sequencing technologies, not the analysis, not ELSI issues
- Practical course with an emphasis on people working with real data and cases
- Focus on WES and WGS data. This is most used, has most cases and data, and is in important ways similar to WGS
Learning goals:
- How to interpret SNVs from WES data
- How to interpret CNVs from WES data
- What practical tools/databases for WES interpretation are freely available
- How the interpretation of WGS data is different from WES data
Number of participants: 60 people maximum
Course instructors:
- Christian Gilissen, bioinformatician, expert in WES/WGS analysis
- Rolph Pfundt, clinical molecular geneticist, expert in cytogenetics of WES/WGS
- Erik-Jan Kamsteeg, clinical molecular geneticist, expert in molecular genetics of WES/WGS
- Lonneke Haer-Wigman, clinical molecular geneticist, expert in molecular genetics of WES/WGS
- Caroline Racine, clinical geneticist, expert in molecular genetics of WES/WGS
Course assistants:
- Vladimir Ryzhikh, bioinformatician
Thursday June 11, 2026
| Time |
Programme Item |
| 08.30 – 09.00 |
Registration |
| 09.00 – 09.45 |
Lecture: General background on (WES) sequencing and bioinformatics (C. Gilissen) |
| 09.45 – 10.30 |
Lecture: SNV interpretation for exomes and genomes (E. Kamsteeg) |
| 10.30 – 10.45 |
Coffee break |
| 10.45 – 12.30 |
Workshop: SNV interpretation with exome and genome cases (All) |
| 12.30 – 13.30 |
Lunch |
| 13.30 – 14.15 |
Lecture: technical challenges in SNV detection and interpretation (C. Gilissen) |
| 14.15 – 15.00 |
Lecture: CNV interpretation for exomes and genomes (R. Pfundt) |
| 15.00 – 15.15 |
Coffee break |
| 15.15 – 16.45 |
Workshop: CNV interpretation with exome and genome cases (All) |
| 16.45 – 17.00 |
Q&A, wrap up of day 1 (All) |
Friday June 12, 2026
| Time |
Programme Item |
| 09.00 – 09.45 |
Lecture: ACMG guidelines and Variants of uncertain significance (C. Racine) |
| 09.45 – 10.30 |
Lecture: Complex cases (L. Haer-Wigman) |
| 10.30 – 10.45 |
Coffee break |
| 10.45 – 12.30 |
Workshop: Complex interpretation (All) |
| 12.30 – 13.30 |
Lunch |
| 13.30 – 14.15 |
Interactive lecture: incidental findings (C. Racine) |
| 14.15 – 15.00 |
Lecture: Advantages of long-read sequencing (C. Gilissen) |
| 15.00 – 15.15 |
Coffee break |
| 15.15 – 16.45 |
Workshop: Complex interpretation (All) |
| 16.45 – 17.00 |
Q&A, wrap up of the course (All) |
CME Credits:
We are applying for European CME credits (ECMEC®s) by the European Accreditation Council for Continuing Medical Education (EACCME®.
Course fees:
Regular: EUR 200
Students: EUR 100
Please not that for the Traine fee, a proof has to be uploaded during the registration (ie student ID).
