12th meeting: Next Generation Sequencing and Recent Advances in Genetics

GENERAL ASSEMBLY 2/3/2012

12.00 - 13.00

Palais des Congrès, Liège

Belgian Society of Human Genetics

12th meeting: Next Generation Sequencing and Recent Advances in Genetics

• 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– 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

Agenda 02/03/2011

• Approval of the Minutes of the previous Meeting held on 04 March 2011 (posted on the BeSHG website)

1. Activity report of the board

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 : done

CFTR, fra-X and cytogenetics : to be finalised

– Harmonization between the 8 Human Genetic Centers– Necessity to agree on an operating mode

•Recognitions in Medical Genetics MDMedical 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

1. Next year projects

2. Financial report for approval

TreasurerGuy Van Camp

2. Financial report 2011

IncomeMembership 7000,00Interests 840,79Sponsoring meeting 2011 42300,00Income course 8200,00Total 58340,79

2. Financial report 2011

ExpenditureCongress 2010 costs -24649,6Cost course* -491,54Banking costs -47,67Costs website -154,52Costs catering (dysm.-, board- , working group meetings) -1510,00Total -26853,33

* Most costs will be booked in 2012, estimated total 3000-4000 €

2. Financial report 2011

Overview 2011Income 58340,79Expenditure -26853,33Balance (profit) 31487,46

BeSHG total assets 31/12/2011 106494,88

3. Activities of the different WG’s

3a - WG on Constitutional Post- and Prenatal (Molecular) Cytogenetics

BelCoCytBjörn Mentens

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

3a. BelCoCyt: MembersUZBrussel Anne-Mie Bael AnneMie.Bael@uzbrussel.be

Ann Van Den Bogaert Ann.Vandenbogaert@uzbrussel.beCatherine Staessens Catherine.Staessen@uzbrussel.beTine Venken tine.venken@uzbrussel.be

UZA Jan Wauters jan.wauters@ua.ac.beElvire Van Assche Elvire.Van.Assche@uza.beFrank Kooy frank.kooy@ua.ac.be

KUL Joris Vermeesch joris.vermeesch@uzleuven. beCindy Melotte Cindy.Melotte@uzleuven. beKris Van Den Bogaert kris.vandenbogaert@uzleuven.be

ULg - CHU Liège Mauricette Jamar Mauricette.Jamar@chu.ulg.ac.beAnne-Cécile Hellin ac.hellin@chu.ulg.ac.beLionel Habran lionel.habran@chu.ulg.ac.be

ULB Christine Hans chans@ulb.ac.beBruno Pichon bpichon@ulb.ac.beAnne De Leener andeleen@ulb.ac.beMontse Urbina Montse.Urbina@ulb.ac.be

UZGent Björn Menten bjorn.menten@ugent.beAnnelies Dheedene annelies.dheedene@ugent.be

IPG Sonia Rombout sonia.rombouts@ipg.beMarianne Crespin marianne.crespin@ipg.beBenoît Parmentier benoit.parmentier@ipg.beBernard Grisart bernard.grisart@ipg.be

UCL Marie Ravoet marie.ravoet@gmed.ucl.ac.be

3b – WG on Cytogenetics for Hematology & Oncology

BCGHOLucienne Michaux / Katrina Rack

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.StudiesUpcoming workshop on micro-arrays (probably in Spring)

•Summary and reports on scientific meetings •Continuous education of technicians (initiated by IPG), participation to the discussions on the recognition as Medical Genetics Lab Scientist

1. Technical developments

2. Accreditation, External quality control : shared experience, practical aspects

3. Scientific: review of cytogenetic files of patients included in trials (i.e. conducted by the GFCH)

Participants: +:- 20

Meetings: 2-3x/year

3b. BCGHO

3c - WG on Molecular Genetics

BELMOLGENWilly Lissens

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: Report

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

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 : 3 major subjects

- Recognition of ‘scientists’ in genetics

- Collaboration with other Workgroups

- Improve reporting + communication (reports, recommendations,..): website BeSHG ?

3c. BELMOLGEN : future

3d - WG on Master Course in Human Genetics

Marc Abramowicz&

Wim Wuyts

- 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

3d. WG on Master Course in Human Genetics

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.

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

► For Belgium’s National Plan for Rare Diseases

► Future convention on Genetic counselling (INAMI – RIZIV)

This medical specialty is important in the process of recognition of individual qualifications

► For cross-border provision of health care

► For Belgium’s National Plan for Rare Diseases

► Future convention on Genetic counselling (INAMI – RIZIV)

3e - WG on Training and Accreditation

► 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,...

► 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,...

Training = Six Years

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.

► 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.

► The project is currently analysed by the High Council of Medical Specialists.

► Have to be approved by the Ministry of Public Health.

Wim Wuyts

3f - WG on the recognition of amedical genetics laboratory supervisor

3f - WG on the recognition of amedical genetics laboratory supervisor

• 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

• 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

• 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 amedical genetics laboratory supervisor

• Recognition committee (=BeSHG WG)- 6 members elected by Belmolgen (2), BCG-HO (2), BelCoCyt (2)- evaluate applications- issue certificate

• Certification criteria:- PhD- 4 year program- General theoretical requirements

- theory genetic aspects (BeSHG course)- quality aspects - biosafety

- molecular track / cytogenetic track- 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

No chairperson

(H. Antoine-Poirel)

3g - WG on Medical Genetics

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 : – 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

BeSHG workgroup on 

Genetics Laboratory Technicians

12th BeSHG meeting

Next Generation Sequencing and Recent Advances in Genetics

12th BeSHG meeting, March 2, 2012, Liège

sebastien.vidrequin@ipg.be

4a - WG on Genetics Laboratory Technicians

Aims :Aims : To promote exchange of informationTo promote exchange of information Communication inter-laboratoriesCommunication inter-laboratories Continue trainingContinue training

Education sessionsEducation sessions WorkgroupsWorkgroups Technical conferencesTechnical conferences

Board :Board : 22 technicians from the 22 technicians from the 88 centers of Human Genetics of Belgium centers of Human Genetics of Belgium

Pre and Post natal – Oncology - FISH – Quality - µarrayPre 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 :Coming soon : 44thth meeting : meeting : 6th March 2012 – Leuven6th March 2012 – Leuven Workgroups Workgroups Annual conferenceAnnual conference

12th BeSHG meeting, March 2, 2012, Liège

AcknowledgmentAcknowledgment

– Candidates for U Liège Lut Van LaerU Antwerpen Cécile Libioulle IPG Katrina RackUCL Hélène Antoine-Poirel

5 – Election of the 4 Board members

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.

• 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 ExcellenceNational Registry

• Presentation by country nodes on their:– involvement in a National Registry,– input into international gene specific databases

International Confederation of Countries Advisory Council

Inaugural Meeting, 12 December 2011Beijing, China

sharing data · reducing disease

7 – BeSHG future meetings

– 2013 Brussels? 8 or 15 March

Satellite sessions for technicians

– 2014 ? Antwerpen

8 - Varia

Belgian Society of Human Geneticswww.beshg.be

Enjoy the lunch & posters:

Satellite meeting :13:30-13:40 Multiplicon

Thank you !

9 - Closing

12th meeting: Next Generation Sequencing and Recent Advances in Genetics