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. 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
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8. SESSION V
HVP Country Nodes
Thursday 2nd June
AUSTRIA
Martina Witsch-Baumgartner
Austrian Society of Human Genetics (ÖGH)
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. 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. 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