In addition to the on-demand sessions listes below, all live sessions will be available on-demand as well within 24 hours after the session.
All on-demand content is accessible for registered participants from the start of the conference until November 1, 2021.

Always Available

Welcoming addresses by :

Maurizio Genuardi, President of the ESHG

Alexandre Reymond, Co-chair of the Scientific Programme Committee

Joris Veltman, Co-chair of the Scientific Programme Committee

View an outline of highlights of the day presented by an SPC member.

Always Available | Educational Sessions E03-E19

E03.1 The CANGEN-CANVAR Programme: Delivering better tools for prevention and early detection in hereditary cancer syndromes

Clare Turnbull
United Kingdom

E03.2 Boosting hereditary cancer research with the European Reference Network GENTURIS

Nicoline Hoogerbrugge;
The Netherlands

E04.1 How to think about uncertainty in clinical genomics

Paul Han;
United States

E04.2 Uncertainty: The experience of prospective parents

Stina Lou;

E04.3 Coping with uncertainty of genomic testing in a non-genetic setting

Anthony Wierzbicki;
United Kingdom

E05.1 Genetic basis of imprinting disordes

Thomas Eggermann;

E05.2 Diagnosis and treatment of imprinting disorders

Karen Temple;
United Kingdom

E06.1 Pre-emptive pharmacogenetic testing in clinical practice

Jesse J. Swen;
The Netherlands

E06.2 Pharmacogenomics: Saving lives with personalized treatment

Jatinder Lamba;
United States

E07.1 Introduction to the arrhythmogenic disorders

Johan Saenen;

E07.2 Inherited arrhythmia syndromes: Beyond monogenic inheritance

Connie R. Bezzina;
The Netherlands

E08.1 Using genomic resources to interpret the clinical significance of rare variants

Heidi Rehm;
United States

E08.2 Intepretation of the non-protein-coding regions of the genome

Nicky Whiffin;
United Kingdom

E09.1 Status of PGT and embryo selection in the era of NGS

Antonio Capalbo;

E09.2 Good practice recommendations for the PGT applications

Martine De Rycke;

E10.1  AI in genomics: the present and the future

Julien Gagneur;

E10.2  Policy, ethical, legal and social issues of AI use in genomics

Sobia Raza ;
United Kingdom

E11.1 Polygenic risks in complex disorders and Covid-19

Angel Carracedo;

E11.2 Polygenic risks in disorders of aging

Valentina Escott-Price;
United Kingdom

E12.1 How are the causes of complex disease distributed in the human genome?

David Balding;

E12.2 Bayesian approaches for discovering the genetic aetiologies of rare diseases

Ernest Turro;
United Kingdom

E13.1  Deciphering liver regeneration cell-by-cell

Dominic Grün;

E13.2 A Studying the immune system cell by cell

Muzlifah Haniffa;
United Kingdom

E14.1 Epivariations in the human genome

Andrew Sharp;
United States

E14.2 Computational analysis of DNA methylation in disease

Kasper Hansen;
United States

E15.1 Signatures of selection in human genome

Aida Andres;
United Kingdom

E15.2 Genetic population structure and its consequences in biobank scale data

Daniel Lawson;
United Kingdom

E16.1 The mediatory role of DNA methylation in causal pathways

Rebecca Richmond;
United Kingdom

E16.2 Exploiting the genome-wide genetic architecture for causal modelling

Michel Nivard;
The Netherlands

E17.1 Chromosomal Instability and aging

Elsa Logarinho;

E17.2 Genomic instability in early embryonic development

Ewart W. Kuijk;
The Netherlands

E18.1  What, when, and whys of genome-wide association studies (GWAS)

Marika Kaakinen;
United Kingdom

E18.2  Considerations for genotyping, quality control, and imputation in GWAS

Ayse Demirkan;
The Netherlands

E18.3  Population structure, meta-analysis and trans-ethnic meta-analysis in GWAS

Reedik Mägi;

E19.1 Improving precision medicine for breast cancer in Africa

Jonine Figueroa;
United Kingdom

E19.2  Pediatric cancer/ Retinoblastoma management in Latinoamerica

Guillermo Luis Chantada

E19.3  Molecular profiling in cancer of African ancestry

John Carpten;
United States

Always Available | Workshops W12-W14

Workshop Organisers:  Dieter Beule, Nadja Ehmke, Manuel Holtgrewe

About the workshop:
The workshop will discuss concepts and tools enabling more medical trained users in the analysis of whole exome variant data sets from individuals, families and cohorts. This year we focus on the challenges for clinical community to share and compare phenotypic and genotypic data.


Dieter Beule (BIH, Berlin, Germany)

From VCF to ClinVar Submission
Nadja Ehmke & Manuel Holtgrewe (Charité, Berlin, Germany)

Publishing & Sharing Clinical Variants in the Netherlands
Marielle van Gijn (UMCG Groningen and VKGL, The Netherlands)

Decipher as a resource for Clinical Exome Analysis
Julia Foreman (Wellcome Sanger Institute, Cambridge, UK)

Workshop Organiser:  Kaitlin Samocha

About the workshop:

Although exome sequencing is now routinely available both for research and clinical purposes, the interpretation of identified variants remains a major challenge. In this workshop, we will address the technical, statistical, and biological considerations that need to be taken into account when interpreting variants from exome sequencing. In particular, we will present approaches to identify and interpret less-often studied types of variation (e.g. 5’ UTR variants), and illustrate their importance using real-life examples.


Welcome and opening remarks
Kaitlin Samocha

Interpretation and understanding of 5’UTR variants
Xiaolei Zhang

Analysis and interpretation of RNA sequencing data in diagnostics of rare disorders
Holger Prokisch

Detection of mosaic chromosomal alterations in children with developmental disorders
Ruth Eberthardt

Workshop Organiser:  Vita Dolzan

About the workshop:

Integration of pharmacogenomics (PGx) in the clinics has the potential to make pharmacotherapy safer and more effective by utilizing genetic patient data for drug dosing and selection. By utilizing examples from the real world clinical setting, the workshop aims to address burning questions related  to implementation of PGx testing in clinical practice, with the emphasis on the available resources and approaches,  that may be of interest for laboratory geneticists, clinical geneticists  and clinicians.


Vita Dolzan, Slovenia

Pre-emptive pharmacogenetic testing: resources available
Jesse J. Swen, The Netherlands

Point-of care pharmacogenetic testing: resources available
William Newman, United Kingdom

Pharmacogenetic testing: Patient journeys and resources available to health care practitioners
Vita Dolzan, Slovenia

Always Available | Corporate Satellites

Note that the programme is subject to change, and will be updated continuously up to the conference