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Presentation SURF Research and Innovation Event 2013 February 28, The Hague University of Applied Sciences. Maud Radstake is Manager Research & Dialogue and Programme Manager Genomics Applications at the CSG Centre for Society and the Life Sciences of the Radboud Universiteit Nijmegen. Terry Vrijenhoek is Program Manager at the Centre for Personalised Genome Diagnostics.
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Responsible datamanagement for personalised medicine It’s the people, not the servers
Dr. Terry Vrijenhoek Dr. Maud Radstake
Personalised health care is about (big) data
Personal diagnostics
Putting the data to the test
CARDIO – pilot project
•9x cardiomyopathy
•DNA & medical reports
•Diagnosis & working reports
Various aspects of the ‘next-’ diagnostic process
1.Diagnostic request – Print forms; not ‘cardiovascular disease’, but ‘MYH7’; DNA concentration
2.Sequencing – various NGS platforms; genome, exome, targeted; quality control
3. Data management – .FASTQ, .BAM, .vcf; EVD or 1000 genomes; server or cloud
4. Output – causal variant, UV, benign; informed or open consent
Ethical and legal
•Basic document ELSI for NGS in diagnostics
Informed consent Report of unsollicited findings Obligation to archive and store Recontacting
•Papers national and international
•Basis for practical implementation
Many actors, many perspectives, many stakes
The patient
Data
Responsible data-management
Towards Responsible Data-management for Personalised Diagnostics
Responsible Research and Innovation (RRI)
Ethics and society as innovation drivers rather than constraints
Transdisciplinary dialogue
Case: NGS data in EPD
Role for ?
Blurring boundaries between research and other domains
Beyond security and privacy: data literacy in dialogue
Co-construction of ICT infrastructure and social value(s)
Relevant initiatives
DISC (Data integration and Stewardship Centre)
Thank you!Drs. Eline Bunnik (EUR)Dr. Conor Douglas (Vumc)Dr. Eric Vermeulen (Vumc, NKI)Mr. Rachel van Hellemondt (Universiteit Leiden)Prof. dr. Bartha Knoppers (McGill University)Prof. dr. Tsjalling Swierstra (Universiteit Maastricht)Prof. dr. Hub Zwart (Radboud Universiteit)
Dr. Jan-Willem Boiten (CTMM, TraIT)Dr. Andre Boorsma (TNO)Dr. Jildau Bouwman (TNO)Dr. Annelien Bredenoord (UMCU)Dr. Ingrid Geesink (Rathenau Instituut)Dr. Wouter Boon (Rathenau Instituut)
Prof. dr. Guido Jenster (EMC)Prof. dr. Frank Miedema (UMCU)Prof. dr. Ben van Ommen (TNO)Prof. dr. Gerrit Meijer (Vumc)Dr. Peter Doorn (DANS)Dr. Jeantine Lunshof (VU, PGP)Dr. Ruben Kok (NBIC, DTL)Prof. dr. Barend Mons (NBIC, DISC)Dr. Colja Laane (NGI)Dr. Rene von Schomberg (DG Research and Innovation, EC)Dr. Lino Paula (DG Research and Innovation, EC)
Dr. Daan Schuurbiers
Dr. Bart Penders (MUMC)Drs. Lisa Rebert (MUMC)
Prof. dr. Edwin Cuppen (UMCU)Prof. dr. Joris Veltman (RUNMC)Prof. dr. Johan den Dunnen (LUMC)Dr. Marjolein Kriek (LUMC)Dr. Erik Sistermans (VUMC)Dr. Quinten Waisfisz (VUMC)Drs. Joep de Ligt (RUNMC)Dr. Ies Nijman (UMCU)Dr. Maartje Vogel (UMCU)Dr. Richard Sinke (UMCG)Dr. Jan Jongbloed (UMCG)Dr. Bert Smeets (MUMC)Dr. Arthur van der Wijngaard (MUMC)Dr. Jasper Saris (EMC)Dr. Wilfried van Ijcken (EMC)Dr. Marjon van Slegtenhorst (EMC)Dr. Marcel Mannens (AMC)Wim Dorlijn (Agilent)Steven van Hove (Illumina)Marco Rijnen (Life Technologies)Ewoud Ouwerkerk (Roche)Wilbert van Workum (ServiceXS)Derek Butler (Baseclear)
Prof. dr. Raoul Hennekam (AMC)Dr. Mr. Corrette Ploem (AMC)Mr. Elcke Kranendonk (AMC)Prof. dr. Guido de Wert (MUMC)Dr. Wybo Dondorp (MUMC)
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