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SESSION V
HVP Country Nodes
Thursday 2nd June
ICCAC
Martina Witsch-Baumgartner
Austrian Society of Human Genetics (ÖGH)
Interim Country Nodes
Democratic Republic of Congo Prosper Lukusa
Kathleen Claes
National Databases
• Canadian Open Genetics Repository (COGR, opengenetics.ca)
• Chinese Gene Variation Database (CGVdb, c...
National Databases
4
New observer status
Country Nodes
• Country Node Award
• HVP Country Node report:
Country Nodes Initiatives
• Global Globin 2020
– Zilfalil Bin Alwi
– Raj Ramesar
• WG07: Minimum Content of a National Dat...
ICCAC challenges
• Data sharing: quality and type of data
- Quality of molecular diagnostics and of interpretation of
vari...
SESSION V
HVP Country Nodes
Thursday 2nd June
AUSTRIA
Martina Witsch-Baumgartner
Austrian Society of Human Genetics (ÖGH)
Austria: a snapshot
• About 8,6 Mio inhabitants
• Genetic laboratories:  10
• Clinical geneticists (Genetic Counselors ):...
HVP Interim Country Node: Organisation
• Year established: 2010
• Structure: depending on Austrian Human Genetics Society ...
Progress, Plans and Problems
• Progress ongoing:
– Regarding gene specific databases master students are engaged
• Interna...
Country Nodes
Angela Solano
Democratic Republic of Congo Prosper Lukusa
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Report from the International Confederation of Countries Advisory Council - Martina Witsch-Baumgartner

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A report from the Chair of the International Confederation of Countries Advisory Council.

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Report from the International Confederation of Countries Advisory Council - Martina Witsch-Baumgartner

  1. 1. SESSION V HVP Country Nodes Thursday 2nd June ICCAC Martina Witsch-Baumgartner Austrian Society of Human Genetics (ÖGH)
  2. 2. Interim Country Nodes Democratic Republic of Congo Prosper Lukusa Kathleen Claes
  3. 3. National Databases • Canadian Open Genetics Repository (COGR, opengenetics.ca) • Chinese Gene Variation Database (CGVdb, cgvdb.tw) • The Cypriot National Genetic Database (server.goldenhelix.org/cypriot/) • Malaysian Node of the Human Variome Project (hvpmalaysia.kk.usm.my/) • The Human Variome Project Australian Node (hvpaustralia.org.au) • UK: DMuDB (funding untill 2014) • ETHNOS databases: • By Gen2Phen, Eurogentest, GoldenHelix Foundation, HGVS 3 HVPAustralia Node Status 12 Labs submitting 31 Genes 903 Unique Variants 29169 Instances submitted 18 Registered Users
  4. 4. National Databases 4 New observer status
  5. 5. Country Nodes • Country Node Award • HVP Country Node report:
  6. 6. Country Nodes Initiatives • Global Globin 2020 – Zilfalil Bin Alwi – Raj Ramesar • WG07: Minimum Content of a National Database – Matt Lebo (CN) – Marijelle van Gijn (NL) – Maurizio Genuardi (IT) – Dylan Mordaunt (NZ) – Peter Taschner (NL) – Martina W-B (AT) • National data sharing: UK example of a workshop (2015)
  7. 7. ICCAC challenges • Data sharing: quality and type of data - Quality of molecular diagnostics and of interpretation of variants  quality schemes  exchange with other labs  certification, accreditation - curation of databases • Submission of phenotypic data by clinicians based by clinical utility • before analysis • after analysis • Submission procedures to international database 7
  8. 8. SESSION V HVP Country Nodes Thursday 2nd June AUSTRIA Martina Witsch-Baumgartner Austrian Society of Human Genetics (ÖGH)
  9. 9. Austria: a snapshot • About 8,6 Mio inhabitants • Genetic laboratories:  10 • Clinical geneticists (Genetic Counselors ): 25 • Laboratory geneticists: 25 • Genetic testing & genetic healthcare centers: 5 (funded by universities and health insurance) • Tyrol: 730.000 inhabitants • Tyrol: oncogenetics:  500/y analyses, all others:  1200/y
  10. 10. HVP Interim Country Node: Organisation • Year established: 2010 • Structure: depending on Austrian Human Genetics Society (ÖGH) • Chair of ÖGH is Michael Speicher (Graz) • Next national Meeting: 30.09.2016 • 29.09.2016: Satellite Symposium: Data Sharing in Austria – about 10.000/y genetic analyses in Austria – Post-, prenatal, predictive and carrier testing • Sanger Seq, FA, SBA, MLPA and NGS – More now by NGS methodology (incl. CNV tool) – Need of interpretation, storage and sharing of data • Funding: industry sponsoring, in future: national health system
  11. 11. Progress, Plans and Problems • Progress ongoing: – Regarding gene specific databases master students are engaged • International: CYP21A2, PAH • one linked disease specific database on 3-methylglutaconic acidurias: AUH, TAZ, OPA3, TMEM70, DNAJC19, SERAC1 • Tyrolean Patients: BRCA1, BRCA2 – FH Registry • Plan for the next 12 months: – Decision about database software for national data sharing (LOVD3, SEAK, Cartagenia, Platomics or other?) • Problems/barriers we face: – Data safety, submission, funding
  12. 12. Country Nodes Angela Solano Democratic Republic of Congo Prosper Lukusa

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