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APR 24-26, 2019 | SEOUL, SOUTH KOREA

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Programme Highlights


Submissions for Chen Awards and HUGO African Prize Award 2019 are now open!
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Chen Award HUGO African Prize

[HUGO Ethics Workshop]

Ethics Half Day @ The Human Genome Meeting 2019

Towards Implementing Genomic Medicine

April 24th - 26th 2019


“Open Science: What do we need to know to protect the interests of all stakeholders: patients, researchers and clinicians?”

A workshop led by the HUGO Committee on Ethics, Law and Society (CELS) and the Human Variome Project (HVP)

Benjamin Capps (Chair, HUGO CELS), Tamra Lysaght (Vice-Chair, HUGO CELS) and Helen Merrideth Robinson (HVP)


The ethics session at the 2019 HUGO Genome Meeting will be held on the first morning – 24th. Refreshments [and lunch?] will be provided. A day registration rate is available, which in addition to the Ethics session, will include access to first days HUGO plenaries.


In a world where there is increasing will to ensure that all benefit from scientific advances, how do those working in the space of human genomics best contribute to this?

One model is Open Science: a model characterized by principles of open data sharing, fast dissemination of knowledge, and cumulative research and cooperation, which aims to accelerate innovation, streamline translation from bench to application, and reduce some of its associated costs.

The idea that data can be accessed by anyone, anywhere in the world, raises important questions for scientists. In this workshop, experts will provide an overview of the ethics, implications for global research networks and infrastructure, and legal issues.


With the collection and sharing of genomic data and information in health systems around the world predicted to increase markedly in the next five to ten years, there is a need for a broader discussion of the implications of this for patients, researchers and clinicians. Currently, the discussion appears fragmented and loosely coupled; many stakeholders, particularly those in from low and middle-income countries are absent from the discussion. This lack of diversity weakens the capacity of debates to progress. There is a need to develop a comprehensive framework for dealing with the challenges of Open Science that can address the often competing interests of a global community involved in this space


HUGO and HVP have an interest in developing the Open Science agenda; but it needs input from scientists expected to use the framework. The HVP, for instance, aims to integrate diversity through involving low and middle income countries in research – this is ideally suited to the Open Science model. The HUGO Ethics Committee has long advocated for sharing the benefits of genomic research – which includes access to research where there are limited resources to do or exclusivity.

This session aims to open/begin a longer term process that looks to:

  1. Giving greater definition to what is meant by Open Science;
  2. Identifying who are the key stakeholders globally who have an interest in this;
  3. Beginning to define a process for building a global framework that will ensure that Open Science is as ethical, diverse and equitable as possible, including a research agenda for the next few years – what do we currently know and what do we need to know.
08:00 ~ 09:00 HUGO Genome Meeting Registration
09:00 – 09:10 Welcome (10 min) Chair of CELS Ben Capps
09:10 – 09:20 Welcome (10 min) EWHA Institute for Biomedical Law and Ethics TBC
09:20 – 10:00
What is Open Science?
HUGO CELS Based on Montreal paper Chair: Tams
10:00 – 10:40
Why do it?
Ethics and Open Science
HUGO CELS Ruth Chadwick
Chair: Tams
10:40 – 11:00 Break (20 min)
11:00 – 11:40
Global Efforts to Expand Open Science: Benefits, and Evidence from the HVP HVP
Examples of disease and country groups currently doing things: Brazil, Malaysia, BRCA, Globin, INSIGHT
Chair: Ben
11:40 – 12:20
What are the challenges?
Legal Aspects
EWHA Institute for Biomedical Law and Ethics EWHA Institute for Biomedical Law and Ethics
12:40 – 13:00
Discussion HUGO, HPV and IBLE HUGO, HPV and IBLE
Chair: Ben
13:00-14:00 HUGO Genome Meeting Registration

[HGVS Nomenclature Session]

HGVS nomenclature

Wednesday April 24, Seoul (South Korea)

Interested in HGVS nomenclature? Want to learn the basics? Want to increase your knowledge? Wiling to test your skills in describing variants?

Join us at the HGM2019 in Seoul for the HGVS nomenclature workshop!

HGVS nomenclature, the HGVS recommendations for the description of sequence variants, are currently supported by HGVS, HVP, HUGO and GA4GH. HGVS nomenclature is the language by which scientific papers and diagnostic reports describe genetic variation, variants in DNA, RNA and protein sequences. Understanding this language, and knowing how to use it, is crucial for mutual understanding between scientists and for the accuracy of scientific and diagnostic reporting. A correct use of the HGVS recommendations prevents miscommunication and ensures that variants are uniquely described and can be efficiently retrieved from existing data repositories facilitating variant annotation and classification.

The aim of the course is to give participants a detailed overview of the HGVS nomenclature (Den Dunnen et al., 2017, Hum.Mutat. 37:564, The course will start simple, gradually go deeper and be interactive, i.e. participants test their skills continuously. Both beginners and experienced users should receive useful information.

The workshop will be an e-workshop; all materials will be provided in electronic format only. Participants are requested to bring their own laptop, tablet or smart phone to be able to use the internet and try the exercises. Participants are encouraged to bring examples of cases where they doubt how to describe the variant correctly.


09.00 Welcome & Introduction

purpose of the nomenclature (standard), short history, terminology, Sequence Variant Description Working Group (SVD-WG), versioning, types of variants

09.30 The basics

reference sequences, IUPAC symbols, residue-numbering conventions, variant types, simple basic descriptions, symbols used, priorities, substitutions, online support tools

10.30 Break

11.00 Deletions, duplications, insertions and other variant types

11.45 Description of variants at the RNA & protein levels

consequences resulting from changes in splicing and/or the open reading frame (missense, nonsense, frame shift)

12.30 Q&A, discussion, evaluation

13.00 Close

Johan den Dunnen

chair HGVS SVD-WG (Sequence Variant Description Working Group)

[Global Consortium for Genomic Education]

“Genomic Education and Training for Healthcare” @ The Human Genome Meeting 2019

Towards Implementing Genomic Medicine

April 24th - 26th 2019


“Genomic Education and Training for Healthcare”

Sponsored by the ‘Global Consortium for Genomic Education (GC4GE)’

Session Lead:

Professor Dhavendra Kumar, Institute of Medical Genetics, Cardiff University School of Medicine & Genomic Policy Unit, University of South Wales, Wales, UK

Session objectives:

  • Essential skills and competencies for delivering the effective genomic medicine & healthcare
  • Core curriculum for genomic education & training
  • Organization and quality outcomes of genomic education & training program
  • Genomic education and training in developing and less developed nations
  • Role of public and media in genetic and genomic education
  • Continuous genetic and genomic education through tertiary multi-disciplinary specialist genetic & genomic clinics (oncology, cardiac, neuro, fetal/neonatal etc.)

Session plan

Date: 24 April 2019, Parallel session between 1000-1300 (following the morning plenary or key note lecture)

Tea/ Coffee provided throughout the session to avoid interuption

Chairs: Prof. Dhavendra Kumar, Cardiff & Genomic Education Director, NIH, Bethesda (To be confirmed)

Speakers (tentative)

6 speakers, 30 minutes each including 5 minutes for questions/ answers

  • Dhavendra Kumar, Cardiff, UK
  • Bruce Korf, Birmingham, Alabama, USA
  • Angus Clarke, Cardiff, UK
  • Carmencita Padilla, Manila, Phillipines
  • Teri Monallo, NHGRI, NIH, Bethesda, MD, USA
  • Raj Ramesar, Capetown, South Africa