The 8th Meeting, National Human Genetics Societies (NHGS-8) took place Sunday, June 24, 2012, 11.15 to 13.15 hrs, in Room Marco Polo, NCC Ost, Nürnberg, Germany.

8^th Meeting of the European Human Genetics Societies
Sunday, June 24, 2012, 11.15 - 13.15 hrs
Room Marco Polo, Nürnberg Convention Centre Ost, Germany 

1. Welcome and Introduction
   
   
2. Milan Macek, NHGSs Liaison and Vice-President of the ESHG
   
   
3. Self-presentation of the meeting participants
   
   
4. ESHG highlights
   Jörg Schmidtke, President of the ESHG
   
   
5. Guest presentation 1: Significance of Nürnberg for the history of genetics
   Heike Petermann, University of Münster
   
   
6. Guest presentation 2: The Human Variome Project
   John Burn, University of Newcastle
   
   
7. Guest presentation 3: Genetic Testing in Emerging Economies (GenTEE) project
   Irmgard Nippert, University of Münster
   
   
8. Guest presentation 4: Next generation sequencing: paradigm shift in genetic testing´
   Joris Veltman, Nijmegen University
   
   
9. Professional and Public Policy Committee
   Martina Cornel, Chair of the Committee
   
   
10. New European guidelines on presymptomatic and prenatal testing (EUGT2)
    Heather Skirton, Chair of the Ad Hoc Committee for Certification of Genetic Nurses/Counsellors, University of Plymouth
    
    
11. DNA Day 2012
    Tayfun Özçelik, Co-Chair ESHG Education Committee
    
    
12. Genetics Services Quality Committee
    Ros Hastings, Chair of the Committee

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8^th Meeting of the European Human Genetics Societies
Sunday, June 24, 2012, 11.15 - 13.15 hrs
Room Marco Polo, Nürnberg Convention Centre

1. Welcome and Introduction
Milan Macek, NHGSs Liaison and Vice-President of the ESHG    

Milan Macek welcomed the participants to the 8th meeting of NHGS. He also told that he had been asked to be the liaison member between NHGSs and the ESHG Executive Committee in the coming years.

2. Self-presentation of the meeting participants 

Participants (47) presented themselves, most were presidents or vice-presidents of their societies. In addition, the entire ESHG Executive Committee was present.

3. ESHG highlights
Jörg Schmidtke, President of the ESHG                                                   

Jörg Schmidtke told the highlights of the work done by ESHG Board and Committees, the main part of the report can be read in the Newsletter. In addition, he told that ESHG had firmly reacted to the Hungarian case of discriminative misuse of genetic testing with a press release which was well received by the media.

Board had in its meeting the day before established European Board of Medical Genetics (EBMG) which will be chaired by Heather Skirton. It will have three divisions: MD clinical geneticists, laboratory geneticists and genetic counsellors/nurses. The two latter will, after some time needed for preparing the processes, start to give European Certificates to those two specialties starting from those countries where the specialties already exist. For MDs, there already exists the specialty in (nearly) all EU countries. For the other countries, the possibilities to have a process for giving European Certificates still has to be evaluated. For all three groups, there also is a plan to develop examinations for re-education.

Jörg Schmidtke reminded that ESHG has fruitful collaboration with, for instance, the EUCERD Committee (www.eucerd.eu), EPPOSI (www.epposi.org), Orphanet (www.orpha.net), Eurordis (www.eurordis.org), Eurogentest (www.eurogentest.org) etc. He wished that the NHGSs also create/continue contacts with these and other European groups.

The plans to integrate the work of Eurogentest and ESHG Quality Committee were also shortly presented. There will be a working group to prepare this within ESHG. Also, the proposition to open ESHG membership not only to Europeans but globally (which was later accepted at the ESHG Membership Meeting) was presented.

Finally, he introduced the plan to have addressing inequalities in genetics health care as one of the topics to be discussed at ESHG2013 in Paris.

4. Guest presentation 1: Significance of Nürnberg for the history of genetics
Heike Petermann, University of Münster

Heike Petermann told about things that happened in Nürnberg before, during and after WWII. Politically, Nürnberg was an important city for the main meetings of the Nazi Party, and this is why the Racial Laws were written/accepted in Nürnberg. However, the implementation of these laws was mostly carried out elsewhere: there was no medical university in Nürnberg and the concentration camps were in other areas. After the WWII, the Nürnberg Trial was held and several medical doctors were sentenced, often for crimes related to the misuse of genetics. Afterwards, the Nürnberg Code was adoptedand it has ever since formed the ethical basis for responsible medical research.

5. Guest presentation 2: The Human Variome Project
John Burn, University of Newcastle                                                         

The main message from Human Variome Project presented by John Burn was that both for the research and clinical work it would be very useful to have an international database of human genomic variation (variome) data. As such a database has to include also some basic phenotypic data which will result into legal issues that could be solved by creation of national nodes for the data collection. According to the wishes of HVP, the national nodes should provide free access to everybody to the variome data that the diagnostic and research laboratories would report to the node. Identifying individuals from the data is very difficult as all data would be pooled on respective national levels.      
Finally, John Burn suggested that NHGSs could promote this idea in their countries.

6. Guest presentation 3: Genetic Testing in Emerging Economies (GenTEE) project
Irmgard Nippert, University of Münster

Irma Nippert presented the first results of GenTEE -project. As infant mortality is decreasing also in the emerging economies like China, India, South-Africa etc, the genetic conditions are becoming relatively more important in their health care systems. GenTEE -project has surveyed different aspects of genetic services in such countries, and the analysis of the results is ongoing. There are a lot of problems in the genetic services in those countries (inequity of access, underfunding of public services, market driven development of services in the private sector with no QA). On the other hand, there are some enormously strong aspects (e.g. unprecedented genome sequencing programs in China). As ESHG plans to have inequalities in genetics health care as one of the topics to be discussed in ESHG2013 in Paris, we will certainly hear more about GenTEE and their activities.

7. Guest presentation 3: Next generation sequencing: paradigm shift in genetic testing
Joris Veltman, Nijmegen University

As NGS is becoming a quick, easily automated and thus also relatively inexpensive method for the analysis of the human genome and makes its way into routine genetic diagnostics, currently in the form of exome sequencing. According to Joris Veltman, NGS will be/is already a good solution to monogenic disorders with marked locus / allelic heterogeneity. In addition, exome (and in the near future genome) sequencing could be used  as the first test(-s) in genetic diagnostics.

In his view, Europe is in good position to have a leading role in the clinically meaningful use of NGS as clinicians and researchers have very close collaboration in Europe. NGS will most likely proceed ahead of possible “official” European guidelines in the field. For this reason, open discussion on practical and ethically sound implementation of NGS should be started/continued in all European countries. The substantial problem of incidental findings needs however further attention and elaboration of common practice guidelines, including appropriate software solutions.

Thomy de Ravel told that in Leuven a think tank type of discussion “Metaforum” has proceeded to an opinion paper on next generation sequencing in diagnostics. The final English translation will be distributed to ESHG members.

8. Professional and Public Policy Committee
Martina Cornel, Chair of the Committee

Martina Cornel reported on the work done by PPPC; the report is published in the Newsletter. She commented to the presentation of Joris Veltman that a PPPC paper related to this is just on ESHG website for consultation, until 1st August. Comments from all European countries/NHGSs are very welcome.

Council of Europe has prepared a leaflet explaining principles of genetic testing to the lay public in accordance with provisions of the Additional Protocol to the Oviedo Convention. ESHG Board has endorsed this leaflet. As soon as we have the permission of CoE to do so, the leaflet will be put to ESHG website. NHGSs are asked to promote the leaflet in their countries, to teachers, patient organisations etc. CoE does not have funding for translation, and the leaflet already is in English and French.

PPPC is happy to have suggestions for future projects. The planned projects are related to mental health and genetic prioritisation.

9. New European guidelines on presymptomatic and prenatal testing (EUGT2)
Heather Skirton, Chair of the Ad Hoc Committee for Certification of Genetic Nurses/Counsellors, University of Plymouth

Heather Skirton shortly presented the two guidelines which are available on ESHG website. The key issues are that genetics community sees it very important that such tests are always preceded by pre-test counselling, the decision to take a test should always be a free choice and the health care professionals involved in the genetic counselling should be appropriately trained.

Again, comment from NHGSs are very welcome as well as comments from individual ESHG members.

10. DNA Day 2012
Tayfun Özçelik, Co-Chair ESHG Education Committee

Tayfun Özcelik reported on the very successful DNA-day of this year. It had been decided to have the essay competition earlier to be able to announce the winners on DNA-day. This was done with two videos that explained and deepened the background for both questions in the competition. The timing is planned to be the same next year. There were participants from 24 European countries.

Education Committee hopes that NHGSs will be active in promoting the DNA day in their own countries.

In the discussion, it was hoped for more social/ethical topics instead of purely scientific ones. Also, there was a suggestion that media could be involved so that the winners could spend a day at a local Newspaper/TV with the possibility to follow the work of a science journalist.

11. Genetics Services Quality Committee
Ros Hastings, Chair of the Committee

Ros Hastings referred to her summary on Quality Committee's work in the Newsletter.

An important part of that work has been organising workshops and symposia (Changing landscape of genetic testing 2010, Array in daily practice: promises and pitfalls 2011). Two workshops/satellites are being planned for 2013. At present, Quality Committee is surveying genetic services, this survey will be sent to NHGSs and it should be filled in by 30th September.

Quality Committee would like to get more input from membership/NHGSs to be better able to know what the community wishes from the Committee.

12.   Other items

Sally Ann Lynch from Ireland told that there have been serious cuts in the resources for genetics clinics in Ireland. This has forced her clinic to reduce their workload by, for instance, not accepting “easy” cases like counselling parents to a child with spina bifida or Down syndrome. In general, the quality of the services is suffering from substantially decreased funding.

Also Feliciano Ramos told that due to economical problems, there are cuts in the budgets of clinical genetics units in Spain.

Sally Ann Lynch wished for figures on the amount of geneticists per number of population from other European countries. When you send these figures, please cc. the figures also the exec(at)eshg.org.

Armenia: Tamara Sarkisian
Austria: Hans-Christoph Duba
Belgium: Thomy de Ravel
Bosnia and Herzegovina: Lajla Kapur-Pojskic
Croatia: Ingeborg Barisic
Croatia: Nina Canki-Klain
Cyprus: Maria Loizidou
Czech Republic & ESHG Executive: Milan Macek Jr.
Denmark: Uffe Birk Jensen
Estonia: Andres Metspalu
Finland: Minna Pöyhönen
Finland: Nina Horak-Kuitunen
Germany: André Reis
Germany: Klaus Zerres
Iceland: Vigdis Stefansdottir
Ireland: Derek Morris
Ireland: Sally Ann Lynch
Israel: Batsheva Kerem
Italy: Giovanni Neri
Latvia: Baiba Lace
Lithuania: Birute Burnyte
Lithuanisa Vaidutis Kucinskas
Macedonia: Dijana Plascska-Karanfilska
Norway: Torunn Fiskerstrand
Poland: Krystyna Chrzanowska
Portugal: Manuel Teixeira
Romania: Cristina Rusu
Romania: Maria Puiu
Russia: Vera Izherskaya
Slovakia: Bela Melegh
Slovenia: Anamrija Brezigar
Spain: Feliciano Ramos
Switzerland: Siv Fokstuen
The Netherlands: Hans K. Ploos van Amstel
 
Guest Speaker: John Burn
Guest Speaker: Joris Veltman
 
ESHG EBMG: Heather Skirton
ESHG Education Committee: Tayfun Özcelik
ESHG Executive: Gunnar Houge
ESHG Executive: Helena Kääriäinen
ESHG Executive: Stanislas Lyonnet
ESHG Executive: Andrew Read
ESHG Executive: Jörg Schmidtke
ESHG Executive: Jerome del Picchia
ESHG PPPC: Martina Cornel