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)