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Consortium Update - May 2017
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Including diverse populations in genomics

For those attending ESHG this year, or those interested in health genomics in communities with diverse populations HVP will be participating in the

following workshop.  The workshop will profile the work of HVP Country Nodes and what we have learned so far from the work of the Global Globin

2020 Challenge.  The presentations hope to spark discussion with a particular emphasis on what the global community of geneticists can do to

tackle these issues in a meaningful way over the next five years.


W09 Including diverse populations in genomics
THEME: Inclusion of Diverse Populations In Genomics Research and Health Services: A Scientific and Health Equity Imperative

Sunday, May 28, 2017, Copenhagen, Denmark
15:00-16:30   Room: Alicante

Sessions Chairs:
Martina C. Cornel, M.D., Ph.D.
Professor of Community Genetics & Public Health Genomics
Clinical Genetics & Amsterdam Public Health Research Institute
VU University Medical Center

Vence L. Bonham, Jr.  J.D.
Senior Advisor to the Director on Genomics and Health Disparities
Associate Investigator, Social and Behavioral Research Branch
National Human Genome Research Institute
National Institutes of Health

Recent developments in genetics and genomics both in science and health care appear to increase socioeconomic inequalities. Health care priorities

in genetics are determined by diseases that have often been studied – i.e. in Western European and American populations. Internationally population-based

genomic studies are being rolled out, for example, the Precision Medicine initiative in the USA and the Genome England 100,000 project. Previous studies

have failed to engage underserved populations, such as, minority communities and those from lower socioeconomic backgrounds. As a consequence

these populations will not benefit from these genomic advances. Furthermore, genetic services tend to have relatively more clients from higher socio-economic

backgrounds. Access is codetermined by awareness, education and income.

The workshop will introduce strategies to improving recruitment and retention of participants from underserved populations. Broadly, considering equality of access, reducing stigmatisation and appropriate patient information on recruitment, and during the study. Furthermore, it will discuss health care disparities and potential approaches to serve all populations, including minorities of non-western ancestry and lower socio-economic status.


Charles Rotimi : Diversity and Inclusion in Genomic Research: Why the uneven progress?

Helena Kääriäinen: Genetics in an isolated population like Finland: a different basis for genomic medicine?

Helen M Robinson:  Increasing the involvement of diverse populations in genomics-based health care – Lessons from Haemoglobinopathies.

The workshop theme will be the basis of a forthcoming issue of Journal of Community Genetics. If you are interested in the issues covered by this workshop and would like to contribute ideas or be involved in an on-going dialogue please contact Helen Robinson directly –

Meeting Announcement

HVP: 2nd Variant Effect Prediction Training Course

6 - 8 November 2017

Prague, Czech Republic.



Abstracts Close 15th July 2017

Earlybird Registration Ends 31st July 2017

We are pleased to announce the 2nd HVP Variant Effect Prediction Training Course (VEP). The course will be held in the historic city of Prague, Czech Republic from 6 - 9 November 2017.

Register with Earlybird Now!

The second workshop will be based on the subjects covered by the Course in Heraklion 2016 but improved based on suggestions of the participants and  will satellite the National DNA Diagnostics meeting that will be held in nearby Pilsen 9 - 10 November.

The course will be a mix of theory and practice presented by invited expert speakers and abstract-selected participant contributions. Practical sessions will be a mix of academic and commercial demonstrations giving course participants hands-on experience with computational analysis tools.

Expected Participants are people working in a DNA laboratory including clinical diagnostic labs involved in DNA sequencing data analysis. Participants are expected to bring their own laptop as this will be needed for the Course.

Expected knowledge - basic knowledge of molecular biology (DNA, RNA, protein), molecular biology lab technologies (esp. sequencing) and (human) genetics.

Johan T. den Dunnen

on behalf of the Scientific Program Committee

Scientific Program Committee: Johan T. den Dunnen (Leiden, Netherlands) CHAIR, Milan Macek Jr. (Prague, Czech Rep.) LOCAL ORGANISER, Stanislav Kmoch (Prague, Czech Rep.), Sebastian Kohler (Berlin, Germany), Andreas Laner (Munich, Germany), Joanne Traeger-Synodinos (Athens, Greece).

Upcoming Meetings

HVP: The 14th International Symposium on Variants in the Genome: detection, genome sequencing and interpretation

5 - 7 June 2017

Santiago de Compostela, Spain

It’s not too late to register!  We still have a few places left at what promises to be an exciting meeting.

By attending this conference you will learn about new genomic technologies, be updated on the BRCA Challenge, interpret variants and phenotype ontologies, and find out the latest advances in forensic genetics and pharmacogenomics. This is known as a friendly meeting, you will meet and network with colleagues from around the world at the many social opportunities provided throughout the conference. Check out the program on our Website but don't leave it too late, the space is almost filled!

For more information visit

We are always interested in hearing about forthcoming meetings and posting information of interest to members;  if you are involved in organizing a conference, for example your national society of human genetics or some similar relevant event, please let us know – send the details to

2017 InSIGHT Biennial Meeting

5th - 8th July 2017 - Florence, Italy

The meeting will convene on Wednesday evening the 5 July, 2017, with a Welcome Ceremony and Reception. The scientific programme will begin on 6 July in the morning and will end on Saturday 8 July around 1pm. The venue is the Palazzo dei Congressi, a historical nineteenth century villa conveniently located near the Santa Maria Novella railway station in the city centre.

Saturday 8th July
Human Genome Variation and the role of InSiGHT

-The Human Variome Project and the BRCA Challenge. Professor Sir John Burn (Newcastle, UK)
-The Global Globin 2020 Challenge. Zilfalil Alwi (Kuala Lumpur, Malaysia)
-The role and activities of Country Nodes in the Human Variome Project. Helen M. Robinson (Melbourne, Australia)
-The InSiGHT variant databases. John-Paul Plazzer, Finlay Macrae (Melbourne, Australia)


American Society of Human Genetics Meeting

17th - 21st July 2017 - Orlando, USA

Human Genome Organsiation (HUGO) + Global Variome (GVL) Meeting

13 – 15 March 2018, Yokohama Japan

Call for Volunteers - Software Developers

The HVP ICO is working on a project to build some tools to help our members interact and share more data. We're looking for people with Python and Django experience, or a willingness to learn, to volunteer some time and help us build something cool. If you're interested, contact Timothy Smith at the ICO.