Challenges of Personalized Health for Clinical Medicine. Peter J Meier-Abt Swiss Academy of Medical Sciences (SAMS) Berne, Switzerland

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1 Challenges of Personalized Health for Clinical Medicine Peter J Meier-Abt Swiss Academy of Medical Sciences (SAMS) Berne, Switzerland

2 Personalisierte Medizin Personalisierte Gesundheit Personalisierte Medizin Personalisierte Gesundheit 2

3 Personalised Medicine Personalized medicine is a strategy to prevent, diagnose, and treat disease so as to achieve an optimal result for the individual. Meyer UA, Clin Pharmacol Ther 91, 373,

4 Individualized Drug Therapy Genetic Factors 4

5 Drug Elimination by Liver and Kidneys Drug-metabolizing Enzymes

6 Pharmakogenetics of CYP2D6 6

7 7

8 Moleculargenetic Variants of Colon Carcinomas A: Bardelli A and S Siena: J Clin Oncol 28: ,

9 CONSUMER GENOMICS The Future of Genetics in Our Everyday Lives Live better, together! Making healthcare better for everyone through sharing, support, and research Join now 9

10 Changes of personal habits after receiving genomics results Nature 505, , 2014 doi: /505286a 10

11 Genetic and Acquired Causes of Diseases Age Sex/Gender Genetic Factors Drugs Disease (Risk, Type, Prognosis Therapy) Nutrition Life Style Social Status inherited factors Epigenetics acquired factors Universität Basel 11 11

12 Epigenetics Heritable changes in gene expression that are not due to changes in DNA sequence (transcriptional and posttranscriptional gene silencing) A common theme to disease epigenetics is the disruption of phenotypic plasticity the ability of cells to change their behaviour in response to internal or external environmental cues. 12

13 The scientific roots: Genotype- Networks- Phenotype Environment, Epigenome Classify Genotype Molecular networks Phenotype

14 The Measured Life Who has Access to the Personal Data?? 14

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16 16

17 Correlation does not imply causation 17

18 Correlation does not imply causation 18

19 Journals unite for reproducibility Marcia McNutt scientific journals are standing together in their conviction that reproducibility and transparency are important Science 346, 679,

20 Clinical Bioinformatics!!!! 20

21 Vision: Integrated Personalized Health Platforms between University Hospitals and Universities/ETH University (or other Research) Hospital Clinical Research Biobanking Molecular and Clinical Data from Patients Clinical Bioinformatics (clinical data) Translational Research Platform «Personalized Health» Technology (*omics, IT, BIX) Individualized Medical Interventions (Service) IT- IT- Infrastructure/computational expertise University/ETH or other Research Institutions 21 (modified from V. Mooser)

22 Vision: Swiss Personalized Health Network (sphnet) Swiss TPH Clinical Research Clinical Bioinformatics Translational (clinical data) Research Platform Technology (*omics, IT, BIX) Biobanking ETHZ Interdisciplinary Steering Board (Central Administration Office) (Data) Coordinating Center National Co ELSI Data storage, data mining, Advisory data reconstituion... Board International communication and coordination Clinical Research Biobanking Translational Research Platform Technology (*omics, IT, BIX) Clinical Clinical Biobanking Research Bioinformatics Translational Research (clinical data) Technolog y (*omics, Platform IT, BIX) Clinical Clinical Biobanking Research Translational Bioinformatics Research (clinical data) Platform Technology (*omics, IT, BIX) Clinical Clinical Biobanking Translational Research Bioinformatics Research (clinical Technology data) Platform (*omics, IT, BIX) Lemanic Center for Personalized Health Clinical Research Biobanking Translational Research Clinical Bioinformatics Platform (clinical data) Technology (*omics, IT, BIX) Translational Personalized Health Platforms at University Hospitals 22

23 From the Lausanne Institutional Biobank (BIL) to the Swiss Biobank Platform (SBP) V. Mooser and Chr. Currat, Swiss Med Wkly. 2014;144:w

24 Data Management Hierarchy for Perosnalized Health related Research Tertiary level: Aggregated and analyzable data for Personalized Health related research, innovation and health care purposes Personal data: Anonymized Central services Secondary level: Standardized data storage & management in the local/regional Personalized Health platforms at University Hospitals Personal data: De-identified or encrypted Primary level: Collection of molecular, clinical and personal health data from patients and/or healthy citizens (heterogenous data sources) Personal data: Identifiable 24

25 Request for a Nationwide Harmonized General Consent Procedure for Use of Biological Material and Health-Related Personal Data for further Use for Research. For further use for research of biological material sampled or health-related personal data collected we need a nationwide harmonized interinstitutional General Consent procedure that can be taken at the first contact of each individual with the health system in Switzerland. To Master New Challenges! 25

26 Components of the Swiss Personalized Health (PH) Initiative Swiss Personalized Health Network (sphnet) Interdisciplinary Steering Board Central Administration Office ELSI Advisory Board Center (Data) Coordinating Local/Regional PH Biomedical Resource (PHBR) Research Projects Translational PH Platforms (nationwide coordinated bio- and data banks) (bottom-up defined) at University Hospitals & Partners: Other Hospitals; General Practitioners; Healthy Citizens. - Clinical Research - Biobanking - Clinical Bioinformatics - Big Data mining etc. - Education/Training Potential Priorities: - Cancer - Microbiomics - Rare diseases - Comorbidities 26

27 Thank you for your attention! 27