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

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.

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

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  1. 12th meeting: Next Generation Sequencing and Recent Advances in Genetics

  2. 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

  3. 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 • a. Constitutional Pre- and Postnatal (Molecular) Cytogenetics “BelCoCyt” (BjörnMentens) • b. Cytogenetics for Hematology and Oncology « BCG-HO » (LucienneMichaux / Katrina Rack) • c. Molecular Genetics “Belmolgen” (Willy Lissens) • d. Interuniversitary Course in Human Genetics (M. Abramowicz / WimWuyts) • e. Training and Accreditation (Christine Verellen-Dumoulin / Eric Legius) • f. Recognition of a « MedicalGeneticLaboratorySupervisor » (Wim Wuyts) • g. Good Clinical Practice (no chairperson as yet / Hélène Antoine-Poirel) • 4. ProposedWork Group • a. « BelgianGeneticTechnicians Association » (Sébastien Vidrequin) • 5. Election of 4 Boardmembers (Secretary, Thomy de Ravel) • 6. HumanVariome Project node (Thomy de Ravel) • 7. Future meetings & general assemblies • 2013 - VUB/ UZ Brussel • 2014 ? • 8. Varia

  4. 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

  5. 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

  6. 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

  7. 2. Financial report for approval Treasurer Guy Van Camp

  8. 2. Financial report 2011

  9. 2. Financial report 2011 * Most costs will be booked in 2012, estimated total 3000-4000 €

  10. 2. Financial report 2011

  11. 3. Activities of the different WG’s

  12. 3a - WG on Constitutional Post- and Prenatal (Molecular) Cytogenetics BelCoCyt Björn Mentens

  13. 3a. BelCoCyt • Guidelinesforprenatalandpostnatalcytogenetics • Guidelinesfor array CGH • Accreditation of (molecular) cytogenetics • ClinicalGuidelines: indicationsfor (Molecular) CytogeneticAnalaysis • RecognitionMedicalGeneticLaboratorySupervisor • New art. 33 - RIZIV/INAMI • Exchange of “difficult” cases • Discussion of special cases, observations, meetings etc.

  14. 3a. BelCoCyt: Members UZBrusselAnne-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 UZA Jan Wauters jan.wauters@ua.ac.be Elvire Van Assche Elvire.Van.Assche@uza.be Frank Kooy frank.kooy@ua.ac.be KUL Joris Vermeesch joris.vermeesch@uzleuven. be Cindy Melotte Cindy.Melotte@uzleuven. be Kris Van Den Bogaert kris.vandenbogaert@uzleuven.be ULg - CHU LiègeMauricette Jamar Mauricette.Jamar@chu.ulg.ac.be Anne-Cécile Hellin ac.hellin@chu.ulg.ac.be Lionel Habran lionel.habran@chu.ulg.ac.be ULB 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 UZGentBjörn Menten bjorn.menten@ugent.be Annelies Dheedene annelies.dheedene@ugent.be IPG Sonia Rombout sonia.rombouts@ipg.be Marianne Crespin marianne.crespin@ipg.be Benoît Parmentier benoit.parmentier@ipg.be Bernard Grisart bernard.grisart@ipg.be UCL Marie Ravoet marie.ravoet@gmed.ucl.ac.be

  15. 3b – WG on Cytogenetics for Hematology & Oncology BCGHO Lucienne Michaux / Katrina Rack

  16. 3b. BCGHO • Activities: • Guidelines for the cytogenetic and molecular genetic analysis of acquired disorders • Education: • Presentations (by members of the group or by invited speakers) • methodological problems or • case discussions or • Studies • Upcoming 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 • 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

  17. BELMOLGENWilly Lissens 3c - WG on Molecular Genetics

  18. 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

  19. 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

  20. 3c. BELMOLGEN : 3 major subjects 1. Methodology (technology): - FRAXA kits - sequencing, next generation sequencing (BRCA1/2) - …… 2. Diseases, case reports: - adrenogenital syndrome -….

  21. 3c. BELMOLGEN : 3 major subjects 3. Logistics, strategy, quality: - article 33 - recognition - guidelines (CF, FRAXA) -….

  22. 3c. BELMOLGEN : future - Recognition of ‘scientists’ in genetics - Collaboration with other Workgroups - Improve reporting + communication (reports, recommendations,..): website BeSHG ?

  23. 3d - WG on Master Course in Human Genetics Marc Abramowicz & Wim Wuyts

  24. 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

  25. 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

  26. 3e - WG on Training and Accreditation Christine Verellen-Dumoulin & Eric Legius

  27. 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.

  28. 3e - WG on Training and Accreditation This medicalspecialtyis 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 Geneticcounselling (INAMI – RIZIV)

  29. 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,... Training = Six Years

  30. 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.

  31. 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.

  32. 3f - WG on the recognition of amedical genetics laboratory supervisor Wim Wuyts

  33. 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

  34. 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

  35. 3g - WG on Medical Genetics No chairperson (H. Antoine-Poirel)

  36. 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

  37. 4a - WG on Genetics Laboratory Technicians Sébastien Vidrequin

  38. 4a - WG on Genetics Laboratory Technicians 12th BeSHG meeting Next Generation Sequencing and Recent Advances in Genetics BeSHG workgroup on  Genetics Laboratory Technicians NEW sebastien.vidrequin@ipg.be 12th BeSHG meeting, March 2, 2012, Liège

  39. 4a - WG on Genetics Laboratory Technicians • Aims : • To promote exchange of information • Communication inter-laboratories • Continue training • 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

  40. 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

  41. 5 – Election of the 4 Board members • Candidates for U Liège Lut Van Laer U Antwerpen Cécile Libioulle IPG Katrina Rack UCL Hélène Antoine-Poirel

  42. 6 – Human Variome Project node Thomy de Ravel

  43. 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. • Professorem JJ Cassiman attendedearlier meetings. • Need for official Belgium ‘node’ • Early 2011, BeSHGasked to be the ‘Node’ • BeSHGsigned up during ESHG 2011 Meeting • Invitation to Meeting in Beijing December 2011

  44. 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).

  45. Centres of Excellence National Registry

  46. Presentation by country nodes on their: • involvement in a National Registry, • input into international gene specific databases sharing data · reducing disease International Confederation of Countries Advisory Council Inaugural Meeting, 12 December 2011 Beijing, China

  47. 7 – BeSHG future meetings • 2013 Brussels ? 8 or 15 March Satellite sessions for technicians • 2014 ? Antwerpen

  48. 8 - Varia

  49. 9 - Closing Enjoy the lunch & posters: Satellite meeting : 13:30-13:40 Multiplicon Thank you ! Belgian Society of Human Genetics www.beshg.be

  50. 12th meeting: Next Generation Sequencing and Recent Advances in Genetics

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