Workshop outlines are published as submitted by the organisers. Note that the content of the workshop is under the sole responsibility of the respective workshop organisers.

Organiser: Joris Veltman    

In this workshop several European experts will present and discuss examples in which diagnostic next generation sequencing (both targeted, exome and genome) was performed, highlighting both challenges and solutions. In addition, people from the audience may bring forward challenging cases to be discussed (please bring max 2 ppt-slides and be present 15 minutes before start of workshop).

Speakers:

Prof.dr. J. Veltman (Radboudumc): Introduction

Prof. dr. A. Rauch (Universität Zürich); NGS in diagnostics; Challening example cases

Dr. G. Santen (Leiden UMC): Next-generation errors in medical practice: A topic for clinical and laboratory geneticsts to address in collaboration

Dr. W.S. Kerstjens-Frederikse (Groningen UMC): Rapid screening for monogenic diseases in severely ill newborns and infants using whole genome sequencing

Organisers: Dian Donnai; Sofia Douzgou    

The organisers of the dysmorphology workshop invite clinicians to submit rare known and unknown cases with dysmorphic syndromes before the workshop. Please bring a short case presentation on a USB stick from 14:45 - 15:15 hrs to the lecture room. Maximum time for presentation: 5‘.

Organisers: Lidewij Henneman; Ulf Kristoffersson

"The changing landscape with expanded screening panels"

Pre-conception carrier testing is the detection of carrier status of recessive disorders to facilitate informed reproductive decision-making by identifying individuals or couples at risk of having an affected child. Carrier screening on population level detects carrier status in persons who do not have an a priori increased risk of having a child with a certain disease based on their or their partners’ personal or family history.

So far, carrier screening is typically performed for recessive disorders associated with significant morbidity and reduced life-expectancy and relatively common in the target population. Examples are carrier screening for cystic fibrosis, ß-thalassemia and fragile-X. Other examples include limited panels of disorders targeted at specific communities, such as the Ashkenazi Jewish population. Testing based on multiple parallel sequencing  technologies enable the extension of screening to multiple conditions, genes or mutations with almost no extra cost or effort. New technologies potentially change the screening landscape but obviously raise new ethical and societal issues.

This workshop will discuss recent decades of experiences with carrier screening and challenges on the introduction of expanded screening panels.  

Carrier screening in Australia: from one disease to many
Sylvia Metcalfe Australia  

Carrier screening in the Jewish community
Kim Holtkamp, The Netherlands  

Design of an NGS expanded carrier screening panel based on research among potential users and providers 
Irene van Langen, The Netherlands  

European recommendations on expanded carrier screening for reproductive decision making
Borut Peterlin, Slovenia  

Discussion with expert panel
Angus Clarke, Phillis Lakeman, Pascal Borry, Nigel Laing

Organisers: M. Macek Jr.; T. Clancy

Clinical care and research are often thought of as separate activities, but the distinction between them can be unclear in practice. Patients/families do not always recognise the difference between tests for clinical care and those for research. Clinicians/researchers often see involvement in research as being part of good clinical care and have an expectation that research will benefit participants directly. This workshop will explore the advantages, disadvantages and tensions of this blurred boundary in genomics.

Speakers: 

Prof Bartha Maria Knoppers, McGill University: the Public Population Project in Genomics and Society’

Dr Helen Firth, Cambridge University Hospitals Trust: the Deciphering Developmental Disorders (DDD) Project

Prof Mark Caulfield, Genomics England: the100,000 Genomes Project

Dr Simon Woods, Newcastle University: RD Connect - Patient Expectations and Concerns

Dr Heidi Howard, Uppsala University: From Research Findings to Clinical Use

Organisers: F. Ramos; D. Coviello

In this workshop we will discuss the work of the European Board of Medical Genetics.  The registration systems now operating for clinical laboratory geneticists and genetic nurses and counsellors will be discussed, alongside the European curriculum for specialists in medical genetics.  This will be an interactive session and we  will be seeking feedback from those who have undergone the registration process and suggestions for development of the work of the EBMG in future.

 *includes 5 minutes questions and discussion

Organisers: D.R. Carvalho-Silva; A. Zadissa

The Ensembl project launched on the eve of the first release of the human genome sequence in 1999 provides one of the most comprehensive and integrated genomic resources currently and freely available. May 2015 marks Ensembl release 80 with 70 species including human, our most highly accessed genome whether in its latest version (the GRCh38 assembly) or previous ones (GRCh37 and NCBI36 assemblies). Ensembl annotates genes and transcripts based on biological evidence, generates gene trees (both protein coding and non-coding) and whole genome alignments, and draws on major biological projects such as ENCODE, Roadmap Epigenomics, Blueprint epigenome, and the 1000 Genomes project as well as reference databases such as dbSNP, the NHGRI-EBI GWAS catalogue and OMIM to annotate other genomic features such as SNPs, CNVs and regulatory elements. This variety of data can be accessed through a multitude of channels including our web browser, APIs (Perl and REST), MySQL and FTP dumps, and our toolkit (e.g. our popular VEP, BioMart, BLAST/BLAT). This interactive workshop will be presented by Denise Carvalho-Silva and Amonida Zadissa and is aimed at all attendees of ESHG 2015 who already use Ensembl or would like to familiarise themselves with the genome browser. Participants will find out how to

• display their own data, such as reads from NGS experiments,
   
• share customised browser views with collaborators,
   
• annotate their own SNPs and CNVs with the VEP,
   
• investigate quick alternatives to the browser (e.g BioMart and the REST API).

Attendees will be able to follow along with the demonstrations in this workshop if they wish, and therefore you should bring a fully-charged WiFi enabled laptop. For questions about the workshop, please contact Denise Carvalho-Silva: denise(at)ebi.ac.uk.

Organisers: P. Goodhand, M. Lawler

The Global Alliance for Genomics and Health is an international, non-profit alliance formed to help accelerate the potential of genomic medicine to advance human health. Bringing together over 300 leading, global organizations working in healthcare, research, disease and patient advocacy, life science, and information technology, members in the Global Alliance are working together to create a common framework of standards and harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical data. There are currently four active Working Groups: Regulatory and Ethics, Data, Security, and Clinical. These Working Groups are charged with producing thoughtful, actionable conclusions and products in their respective work areas. Learn more at: genomicsandhealth.org.

This workshop session will present an overview of the Global Alliance, including overall goals and Working Group progress. The second part of the workshop will be a short presentation to initiate a panel discussion on the topic of community engagement. Specifically, how can the Global Alliance better engage the many different communities (researchers, clinicians, patients, and others) with whom – and for whom – we work.

Welcome: Opening Remarks (10 min)

Global Alliance overview and Goals (10 min)

> Peter Goodhand, GA4GH Executive Director

Working Group and Project progress (30 min)

> Edward Dove, Regulatory and Ethics Working Group Coordinator

> Mark Lawler, CWG Executive Committee Member

> Gil Alterovitz, CWG Executive Committee Member

> Peter Goodhand, GA4GH Executive Director

Audience engagement session: community engagement (45 min)

> Anna Middleton, Senior Staff Scientist, Ethics Researcher, Wellcome Trust Sanger Institute

Panel discussion:

> Kazuto Kato, REWG Executive Committee Member

> Mark Lawler, CWG Executive Committee Member

> Natasha Bonhomme, Vice President of Strategic Partnership, Genetic Alliance

> Kym Boycott, CWG Executive Committee Member