Personalized Genomics and the Future of Genome Analysis The Scientists Perspective
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1 Personalized Genomics and the Future of Genome Analysis The Scientists Perspective Molecular Diagnostics Symposium, March 5/6 2015, Zürich Prof. Ernst Hafen Institute of Molecular Systems Biology Ernst Hafen
2 The Human Genome 6 bn Base Pairs (3 bn from each Parent) Difference between Individuals: 1 / 1000 Base Pairs Institute of Molecular Systems Biology Ernst Hafen
3 Identical Genomes Monozygotic Twins Institute of Molecular Systems Biology Ernst Hafen
4 Identical Genomes Monozygotic Twins not so similar! articles/ php Institute of Molecular Systems Biology Ernst Hafen
5 Behavior Health Drugs Therapy Genome Environment Institute of Molecular Systems Biology Ernst Hafen
6 The $ Genome is in Sight Institute of Molecular Systems Biology Ernst Hafen
7 Genetics of Drug Dosing One Size Does NOT Fit All Activation of thrombosis inhibitor Plavix is dependent on gene variants (CYP2C19) Gene variants determine sensitivity to blood thinner Warfarin Inflammation inhibitor Vioxx cases liver toxicity and heart failure in certain gene variants Genetic information available for > 150 drugs FDA: Table of Pharmacogenomic Biomarkers in Drug Labeling Institute of Molecular Systems Biology Ernst Hafen
8 Die mobile Health Revolution > Health Apps Continuous health monitoring without a visit to the doctor New personal data in new silos Institute of Molecular Systems Biology Ernst Hafen
9 Google Maps of Health Integration of personal health data across countries, The Human Information System Integration of diverse data sets from millions of people Big Data in health is all about personal data Need to establish a personal data and knowledge commons The active participation of citizens is essential Ref: Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease National Research Council of the National Academies of Sciences, USA 2012 Institute of Molecular Systems Biology Ernst Hafen
10 Personal Genome Analysis Institute of Molecular Systems Biology Ernst Hafen
11 Institute of Molecular Systems Biology Ernst Hafen
12 Digital dependency The personal data crisis The competition for personal data: 23andme, Google, Amazon, Facebook, Twitter, Migros, Coop,... Large commercial interests in personal data 1 trillion market (BCG 2012) Personal data are valuable and sensitive Digital serfdom WEF_ITTC_PersonalDataNewAsset_Report_201 1.pdf Institute of Molecular Systems Biology Ernst Hafen
13 Personal Data A Market* Digital Serfdom * BCG Study Institute of Molecular Systems Biology Ernst Hafen
14 Trust Digital Self Determina.on Control over secondary use CiFzen- controlled data cooperafves NZZ 2. März 2014 Institute of Molecular Systems Biology Ernst Hafen
15 Verein Daten und Gesundheit Gegründet Juli 2012
16 Project Digital Self Determina.on Discussing the legal, ethical and social boundary condifons for the the cifzens control over the secondary use of their personal data. CollaboraFon with Prof. Thomas Gächter (UZH) Goal: Anchoring the Digital Self DeterminaFon (Das Recht auf Kopie) in the Swiss consitufton
17 MIDATA CooperaFves My Data Our Health Personal Data CooperaFves
18 Personal data repositories organized as cooperafves CiFzen- centered and owned by cifzens. Secure storage, management and control over secondary use of personal data. CiFzens decide what data they want to share with whom. Members decide how revenues will be used.
19 Secondary Use New Personal data based services (e.g. personal choice engines) New Personal data based research (privacy protected!) MIDATA Health Data Coopera.ves CiFzen controls data ingest and access Global data sharing ( layered disclosure ) AggregaFon possible MIDATA HDCs parfcipate in personal data market ( } Apps Personal data services Open Clinical Trial Data MIDATA Coopera.ves Research OpenFDA Drug side effects CiFzen- controlled data access Ci.zen Science PaFent- inifated research CiFzen- owned Personal Data Placorms CiFzen- controlled data ingest VRM Vendor RelaFon Management: CiFzen- controlled interacfon with companies Other countries Primary Use Provider controls data management Data silos Data protecfon law Individual privacy regulafon No aggregafon Healthcare retail fitness others Healthcare retail fitness others Healthcare retail fitness others Other Healthcare countries retail fitness others
20 Who profits how? Members Access to all their personal data Knowledge from sharing informafon AcFve parfcipafon in the Common Good Health (reduced healthcare costs) Healthcare providers as partners Revenue share on the income generated from secondary use Marketplace for new data analysis and visualizafon tools InternaFonal data placorm
21 Contact InformaFon AssociaFon Data and Health Prof. Ernst Hafen InsFtute of Molecular Systems Biology ETH
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