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Consortium Update - November 2017
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Ethics Checklist – comments please

HVP’s Gene/Disease Specific Database Advisory Council (GDDAC) has been working on an Ethical Checklist to assist database curators and it is time for it to go to member comment. Checklist For Gene/Disease Specific Database Curators To Enable Ethical Data Management  can be viewed here (LINK) – once approved, this will become an addition to HVP’s growing set of official Standards and Guidelines that assist members. This Checklist is an up-dated version of 2010 guidelines and the checklist format is designed to ease implementation because after all, it is the implementation that is most important – there is little point in having guidelines if they are not easy to use. The Checklist is posted here until 1 February 2018 for comment. We are looking for two types of comment:

  1. Comments on the content
  2. Comments and suggestions of how the final version can be implemented – how could you use this in your area?

Please send any comments to Helen Robinson
For  more technical issues please contact the leader of the working group who oversaw this work – Rosemary Ekong -
Thank you!


Australian Government releases National Health Genomics Policy Framework

- this document was recently endorsed by state and federal health ministers to set out a vision for integrating genomics into the national health system. It was prepared after a period of consultation in which HVP members and the HVP Australian Node participated. Importantly the framework includes Data – the responsible collection, storage, use and management of genomic information - as one of five priority areas. It would be interesting to hear from members if their own national governments had produced a similar document – please let us know – Helen – 

If you are interested, you can access the complete document here:


Topical article – Genetic Testing: what problem are we trying to solve?
By Kevin S Hughes of Harvard Medical School USA appeared in recent issue of Journal of Clinical Oncology (DOI: 10.1200/JCO.2017.74.7899) does some projections concerning demand for testing for BRCA carriers to raise some issues about identifying high risk patients and the role of population screening in prevention of hereditary cancer susceptibility cancers.


World Science Forum, Jordan – 7-11 November

HVP was represented at the recent World Science Forum (WSF). Members will recall that HVP has the privilege of having official relations as an NGO with UNESCO resulting from working relationship between the two organizations over the past decade.  The key theme of the meeting was focussed on how science can be used for peace. While this seems somewhat distant from HVP’s mission and activities, several issues of relevance to the work of HVP emerged:

  • The need for strong voices to support open and transparent data sharing was raised several times during the meeting; this open sharing of all kinds of data, including genomic information and bio-data; it is seen as the best means of countering misuse of information; open transparent data sharing is seen as being empowering particularly to smaller groups
  • Need to be actively involved to trans-generational exchange of knowledge and expertise – the importance of involving younger people in debates on genetics and genomics; the challenge for HVP members is how to draw more younger scientists into their work and how to attract younger people into a career involving human genetics and genomics as the demand for these skills will grow in the coming years.

Full Meeting Report



GG2020 Challenge was involved in several key meetings during November.  Those seeking more information should contact the key people listed below.
  1. Thalassaemia Awareness Campaign: Towards Zero Thalassaemia - 26 October 2017 - Full meeting report
  2. Asia-Pacific Conference on Human Genetics – APCHG 2017 Bangkok, Thailand 8 -10 November 2017 – contact Prof Zilfalil Bin Alwi
  3. African Society of Human Genetics – Cairo, Egypt 16-18 November 2017– contact Prof Raj Ramesar
  4. Meeting of International Thalassemia Federation – Thessaloniki, Greece – contact Carsten Lederer


We are currently in the process of integrating LOVD (Leiden Open (source) Variation Database) under the HVP umbrella. The LOVD3 website has recently included our logo. Johan T Den Dunnen, leader of LOVD3, is an active member of HVP, currently working with countries who have yet to share their data. He also runs various training courses throughout the year.


YOKOHAMA, 13-15th March 2018

We encourage all members to attend our HVP sessions at the Human Genome Meeting.13–15 March 2018, Yokohama Japan.