12th meeting: Next Generation Sequencing and Recent Advances in Genetics
Belgian Society of Human Genetics
12th meeting: Next Generation Sequencing and Recent Advances in Genetics
GENERAL ASSEMBLY 2/3/2012
12.00 - 13.00
Palais des Congrès, Liège
Agenda 02/03/2011
•
1. Introduction / Overview of past activities of the Board and of the Society
(President, Hélène Antoine-Poirel)
•
2. Financial report
(Treasurer, Guy Van Camp)
•
3. Activities of the different workgroups
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–
–
–
–
–
–
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a. Constitutional Pre- and Postnatal (Molecular) Cytogenetics “BelCoCyt” (Björn Mentens)
b. Cytogenetics for Hematology and Oncology « BCG-HO » (Lucienne Michaux / Katrina Rack)
c. Molecular Genetics “Belmolgen” (Willy Lissens)
d. Interuniversitary Course in Human Genetics (M. Abramowicz / Wim Wuyts)
e. Training and Accreditation (Christine Verellen-Dumoulin / Eric Legius)
f. Recognition of a « Medical Genetic Laboratory Supervisor » (Wim Wuyts)
g. Good Clinical Practice (no chairperson as yet / Hélène Antoine-Poirel)
4. Proposed Work Group
–
a. « Belgian Genetic Technicians Association » (Sébastien Vidrequin)
•
5. Election of 4 Board members
(Secretary, Thomy de Ravel)
•
6. Human Variome Project node (Thomy de Ravel)
•
7. Future meetings & general assemblies
–
–
•
2013 - VUB/ UZ Brussel
2014 ?
8. Varia
1. Activity report of the board
• Approval of the Minutes of the previous Meeting held
on 04 March 2011 (posted on the BeSHG website)
The Board met 6 times:
April 4th, Aug 23rd, Nov 18th, Dec 16th, Jan 13th, Feb 10th
1. Activity report of the board
• Organisation of the 12th Annual Meeting in Liège
• Workgroups
– Need for accreditation  training, recognition, quality controls, guidelines…
– Creation of the WG for :
• Recognition of a « Medical Genetic Laboratory Supervisor » (Wim Wuyts)
• technicians (Sébastien Vidrequin) / participation to the annual conference : satellite
symposia
– Ethical and societal issue ?
• Collaboration with the High Council of Human Genetics / College of
Medical Geneticists & INAMI/RIZIV
– Guidelines for
standard versus complex genetic counceling :
CFTR, fra-X and cytogenetics :
– Harmonization between the 8 Human Genetic Centers
– Necessity to agree on an operating mode
done
to be finalised
1. Next year projects
• Recognitions in
Medical Genetics MD
Medical Genetics Laboratory Specialist
• Participation of technicians to the next annual meeting : satellite symposium
• National Guidelines (BeSHG website)
•
DNA day (25th April)
•
HVP : Human Variome Project
2. Financial report for approval
Treasurer
Guy Van Camp
2. Financial report 2011
Income
Membership
Interests
Sponsoring meeting 2011
Income course
Total
7000,00
840,79
42300,00
8200,00
58340,79
2. Financial report 2011
Expenditure
Congress 2010 costs
Cost course*
Banking costs
Costs website
Costs catering (dysm.-, board- , working group meetings)
Total
* Most costs will be booked in 2012, estimated total 3000-4000 €
-24649,6
-491,54
-47,67
-154,52
-1510,00
-26853,33
2. Financial report 2011
Overview 2011
Income
Expenditure
Balance (profit)
58340,79
-26853,33
BeSHG total assets 31/12/2011
106494,88
31487,46
3. Activities of the different WG’s
3a - WG on Constitutional Post- and Prenatal
(Molecular) Cytogenetics
BelCoCyt
Björn Mentens
3a. BelCoCyt
 Guidelines for prenatal and postnatal cytogenetics
 Guidelines for array CGH
 Accreditation of (molecular) cytogenetics
 Clinical Guidelines: indications for (Molecular) Cytogenetic Analaysis
 Recognition Medical Genetic Laboratory Supervisor
 New art. 33 - RIZIV/INAMI
 Exchange of “difficult” cases
 Discussion of special cases, observations, meetings etc.
3a. BelCoCyt: Members
UZBrussel
UZA
KUL
ULg - CHU Liège
ULB
UZGent
IPG
UCL
Anne-Mie Bael
AnneMie.Bael@uzbrussel.be
Ann Van Den Bogaert
Ann.Vandenbogaert@uzbrussel.be
Catherine Staessens
Catherine.Staessen@uzbrussel.be
Tine Venken
tine.venken@uzbrussel.be
Jan Wauters
jan.wauters@ua.ac.be
Elvire Van Assche
Elvire.Van.Assche@uza.be
Frank Kooy
frank.kooy@ua.ac.be
Joris Vermeesch
joris.vermeesch@uzleuven. be
Cindy Melotte
Cindy.Melotte@uzleuven. be
Kris Van Den Bogaert
kris.vandenbogaert@uzleuven.be
Mauricette Jamar
Mauricette.Jamar@chu.ulg.ac.be
Anne-Cécile Hellin
ac.hellin@chu.ulg.ac.be
Lionel Habran lionel.habran@chu.ulg.ac.be
Christine Hans
chans@ulb.ac.be
Bruno Pichon
bpichon@ulb.ac.be
Anne De Leener
andeleen@ulb.ac.be
Montse Urbina
Montse.Urbina@ulb.ac.be
Björn Menten bjorn.menten@ugent.be
Annelies Dheedene
annelies.dheedene@ugent.be
Sonia Rombout
sonia.rombouts@ipg.be
Marianne Crespin
marianne.crespin@ipg.be
Benoît Parmentier
benoit.parmentier@ipg.be
Bernard Grisart
bernard.grisart@ipg.be
Marie Ravoet
marie.ravoet@gmed.ucl.ac.be
3b – WG on Cytogenetics for
Hematology & Oncology
BCGHO
Lucienne Michaux / Katrina Rack
3b. BCGHO
Activities:
•
Guidelines for the cytogenetic and molecular genetic analysis of acquired disorders
•
Education:
1.Presentations (by members of the group or by invited speakers)
a.methodological problems or
b.case discussions or
c.Studies
Upcoming workshop on micro-arrays (probably in Spring)
2.Summary and reports on scientific meetings
3.Continuous education of technicians (initiated by IPG), participation to the discussions on the
recognition as Medical Genetics Lab Scientist
•
Technical developments
•
Accreditation, External quality control : shared experience, practical aspects
•
Scientific: review of cytogenetic files of patients included in trials (i.e. conducted by the GFCH)
Participants: +:- 20
Meetings: 2-3x/year
3c - WG on Molecular Genetics
BELMOLGEN
Willy Lissens
3c. BELMOLGEN: Report
LAB people in Molecular Genetics from the 8 Belgian
Centres for Human Genetics: BELMOLGEN
Workgroup of the BeSHG since April 2008
LIEGE 2 March 2012
3c. BELMOLGEN
Four meetings in 2011: 18 February, 29 April,
16 September, 16 December
- General format: presentations by 2 centers/meeting
+ free communications
- meeting UZ Brussel
3c. BELMOLGEN : 3 major subjects
1. Methodology (technology):
- FRAXA kits
- sequencing, next generation sequencing (BRCA1/2)
- ……
2. Diseases, case reports:
- adrenogenital syndrome
-….
3c. BELMOLGEN : 3 major subjects
3. Logistics, strategy, quality:
- article 33
- recognition
- guidelines (CF, FRAXA)
-….
3c. BELMOLGEN : future
- Recognition of ‘scientists’ in genetics
- Collaboration with other Workgroups
- Improve reporting + communication (reports,
recommendations,..): website BeSHG ?
3d - WG on Master Course in Human
Genetics
Marc Abramowicz
&
Wim Wuyts
3d. WG on Master Course in Human
Genetics
- first organized 2008-2009
- Inter-University course on Human Genetics
- 8 days of course + additional work + exam
- each day organized by one of 8 Belgian Genetic Centres
- Thompson and Thompson’s Genetics in Medicine
- 53 students registered, 39 students took exam
- Passing the Inter-University certificate is required in current project of
MD Specialty in Medical genetics
3d. WG on Master Course in Human
Genetics
- 2009-2010
- on Fridays instead of Saturdays
- 12 students showed up for exam
-2010-2011 was skipped
-2011-2012 : 44 students
3e - WG on Training and Accreditation
Christine Verellen-Dumoulin
&
Eric Legius
3e - WG on Training and Accreditation
GENETICS AS MEDICAL
SPECIALTY IN BELGIUM
On March 3rd 2011, the clinical/medical genetics
specialty was officialy recognised as an EU wide
specialty by the European Commission (EU 213/2011)
Specialist medical training in medical genetics has
developed in most of the Members States but Greece,
Cyprus, Malta and Belgium.
3e - WG on Training and Accreditation
This medical specialty is important in the process of recognition of
individual qualifications
►
For cross-border provision of health care
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For Belgium’s National Plan for Rare Diseases
►
Future convention on Genetic counselling (INAMI – RIZIV)
3e - WG on Training and Accreditation
Training = Six Years
► 2 years in clinical practice such as pediatrics, internal medicine,
neurology,...
► 4 years in medical genetics
- 2 years in clinical genetics : genetic counselling,
dysmorphology,...
- 2 years in laboratory genetics : molecular biology,
cytogenetics,...
3e - WG on Training and Accreditation
► Permanent Education Course in Human Genetics certificate –
BeSHG.
► One presentation in a Scientific Meeting.
► One paper (first or last author) on Medical Genetics in a peer
reviewed journal.
3e - WG on Training and Accreditation
► The project is currently analysed by the High Council of Medical
Specialists.
► Have to be approved by the Ministry of Public Health.
3f - WG on the recognition of a
medical genetics laboratory supervisor
Wim Wuyts
3f - WG on the recognition of a
medical genetics laboratory supervisor
•
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History:
Position of molecular geneticist/cytogeneticist in Belgian genetic diagnostic laboratories is
poorly defined
Previous attempts for better recognition failed
Other countries (UK, Netherlands, Germany,…..) have “recognized” molecular/ cytogeneticists
•
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Aim of the WG:
Develop a medical genetics laboratory supervisor certification
Define the profile of a medical genetics laboratory supervisor
Develop program/criteria for certification
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Achievements:
Draft with criteria for medical genetics laboratory supervisor was prepared
Draft evaluated by BeSHG working groups BELMOLGEN, BCH-HO, Const Cytogenetics
Revised version presented to BeSHG board
3f - WG on the recognition of a
medical genetics laboratory supervisor
•
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Recognition committee (=BeSHG WG)
6 members elected by Belmolgen (2), BCG-HO (2), BelCoCyt (2)
evaluate applications
issue certificate
•
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Certification criteria:
PhD
4 year program
General theoretical requirements
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molecular track / cytogenetic track
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•
theory genetic aspects (BeSHG course)
quality aspects
biosafety
practical experience for both tracks (various techniques)
supervision of defined minimal number of tests for various techniques
retrospective certfification for “established” supervisors (within 6 months)
Certificate validity
-
for 5 years
permanent education
prolongation criteria
3g - WG on Medical Genetics
No chairperson
(H. Antoine-Poirel)
3g - WG on Medical Genetics
• 4 meetings
• 4 Guidelines :
– Standard vs complex genetic counselling (28/01) : done
– CFTR, Fra-X, Cytogenetics (29/04, 20/05, 14/06) : sent to HCHG (06/01/12)
• Methodology / operating mode :
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–
–
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Review of published guidelines with comments
Ad hoc composition of WG depending on tasks (members from various othe WG)
Consensus relatively easy obtained during meetings
High number of later modifications
Communication within each genetic center ?
Representative role of the clinical core of each genetic center ?
• HCHG :
– References: Genetests, Oxford Desk.
– Report of the various expressed opinions , rather than a very inclusive / consensus conclusion
So that the HCHG is in a position to choose & settle the issue of good genetics practice in Belgium
– Next guidelines : BRCA1/2, Huntington, mental retardation
4a - WG on Genetics Laboratory Technicians
Sébastien Vidrequin
4a - WG on Genetics Laboratory Technicians
12th BeSHG meeting
Next Generation Sequencing and Recent
Advances in Genetics
BeSHG workgroup
on
Genetics Laboratory Technicians
sebastien.vidrequin@ipg.be
12th BeSHG meeting, March 2, 2012,
Liège
4a - WG on Genetics Laboratory Technicians

Aims :
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

To promote exchange of information
Communication inter-laboratories
Continue training
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Education sessions
Workgroups
Technical conferences
Board :

22 technicians from the 8 centers of Human Genetics of Belgium
 Pre and Post natal – Oncology - FISH – Quality - µarray
12th BeSHG meeting, March 2, 2012,
Liège
4a - WG on Genetics Laboratory Technicians
• Events:
– First meeting : 12th April 2011 – IPG
– 2nd meeting : 28th June 2011 – IPG
– 3rd meeting : 29th November 2011 – CHU Liege
 Coming soon :



4th meeting : 6th March 2012 – Leuven
Workgroups
Annual conference

Acknowledgment
12th BeSHG meeting, March 2, 2012,
Liège
5 – Election of the 4 Board members
– Candidates for U Liège
U Antwerpen
IPG
UCL
Lut Van Laer
Cécile Libioulle
Katrina Rack
Hélène Antoine-Poirel
6 – Human Variome Project node
Thomy de Ravel
• HVP is an international consortium of researchers and clinicians from
more than 30 countries inaugurated in 2006 in Melbourne, Australia,
with the major goal of documenting (and placing in a database) all
polymorphisms and mutations in human sequences, as well as
associate these with human health and diseases. This ensures that
global information on genetic variation is collected, curated,
interpreted and shared freely and openly.
•
•
•
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Professor em JJ Cassiman attended earlier meetings.
Need for official Belgium ‘node’
Early 2011, BeSHG asked to be the ‘Node’
BeSHG signed up during ESHG 2011 Meeting
Invitation to Meeting in Beijing December 2011
• 2 day meeting for China becoming HVP node
Qi Ming (right) heads up China's research on the Human Variome Project,
launched in 2006 by scientific director Richard Cotton (left).
Centres of Excellence
National Registry
sharing data · reducing disease
International Confederation of Countries
Advisory Council
Inaugural Meeting, 12 December 2011
Beijing, China
• Presentation by country nodes on their:
– involvement in a National Registry,
– input into international gene specific databases
7 – BeSHG future meetings
– 2013
Brussels
? 8 or 15 March
Satellite sessions for technicians
– 2014
? Antwerpen
8 - Varia
9 - Closing
Thank you !
Enjoy the lunch & posters:
Satellite meeting :
13:30-13:40 Multiplicon
Belgian Society of Human Genetics
www.beshg.be
12th meeting: Next Generation Sequencing and Recent Advances in Genetics