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SESSION VHVP Country NodesThursday 2nd JuneICCACMartina
Witsch-BaumgartnerAustrian Society of Human Genetics (GH)
Interim Country Nodes
Democratic Republic of Congo
Prosper LukusaKathleen Claes
National DatabasesCanadian 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
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HVPAustraliaNode Status12Labs submitting31Genes903Unique
Variants29169Instances submitted18Registered Users
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National Databases4New observer status
Country NodesCountry Node AwardHVP Country Node report:
Country Nodes InitiativesGlobal Globin 2020Zilfalil Bin AlwiRaj
RamesarWG07: Minimum Content of a National DatabaseMatt 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)
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
utilitybefore analysisafter analysis
Submission procedures to international database
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SESSION VHVP Country NodesThursday 2nd JuneAUSTRIAMartina
Witsch-BaumgartnerAustrian Society of Human Genetics (GH)
Austria: a snapshotAbout 8,6 Mio inhabitantsGenetic
laboratories: 10Clinical geneticists (Genetic Counselors ):
25Laboratory geneticists: 25Genetic testing & genetic
healthcare centers: 5 (funded by universities and health
insurance)Tyrol: 730.000 inhabitantsTyrol: oncogenetics: 500/y
analyses, all others: 1200/y
HVP Interim Country Node: OrganisationYear established:
2010Structure: depending on Austrian Human Genetics Society
(GH)Chair of GH is Michael Speicher (Graz)Next national Meeting:
30.09.201629.09.2016: Satellite Symposium: Data Sharing in
Austriaabout 10.000/y genetic analyses in AustriaPost-, prenatal,
predictive and carrier testing Sanger Seq, FA, SBA, MLPA and
NGSMore now by NGS methodology (incl. CNV tool)Need of
interpretation, storage and sharing of dataFunding: industry
sponsoring, in future: national health system
Progress, Plans and ProblemsProgress ongoing:Regarding gene
specific databases master students are engagedInternational:
CYP21A2, PAHone linked disease specific database on
3-methylglutaconic acidurias: AUH, TAZ, OPA3, TMEM70, DNAJC19,
SERAC1Tyrolean Patients: BRCA1, BRCA2FH 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
Country Nodes
Angela SolanoDemocratic Republic of Congo
Prosper Lukusa
