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Jacques Fellay, EPFL, pour la journée e-health 2013
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Jacques Fellay, EPFL, pour la journée e-health 2013


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  • 1. From human genomic researchto digital medicineJacques FellaySchool of Life SciencesEPFL – Lausanne, Switzerland
  • 2. Marching towards predictive,preventive, personalized andparticipatory (4P) medicineA revolution in the making
  • 3. Eric Green et al., Charting a course for genomic medicine from base pairs to bedside, Nature 2011A revolution in the making
  • 4. 2001: A Species Odyssey
  • 5. 3 billions base pairs (ATGC)23’000 protein-coding genes99.9% inter-individual identity (yet 4 millions differences)99% identical to chimpanzee genome (yet 6% different genes)The human genome
  • 6. DNARNAProteinsATGCAUGC20 amino acidsThe flow of genetic information
  • 7. EpigenomeMetagenomeProteomeMetabolomeTranscriptome
  • 8. Exploring the human genomeSanger sequencing,targeted genotypingGenome-widegenotyping (GWAS)ExomesequencingGenomesequencing2001 2008
  • 9. We are all different…4 million DNA variants / individual Single nucleotide polymorphisms (SNPs) Small insertions/deletions (indels) Larger structural variants• copy number variants (CNVs)• inversions• translocations
  • 10. Exploiting human genetic variationIdentification ofrelevant genetic variantPredictionmodelsUnderstanding ofunderlying biologyClinically usefulpredictionClinically usefultherapies
  • 11. InfectionExposureViral control -diseaseprogressionResistance -acquisitionHIV host genetic studies:clinical phenotypes
  • 12. Science 1996 Sep 27;273(5283):1856-62Science 2010 Dec 10;330(6010):1551-7Science 2007 Aug 17;317(5840):944-7
  • 13. Genetic score and HIV disease progressionFellay et al., PLoS Pathogens 2011
  • 14. IL28B genotype and responseto anti-hepatitis C treatmentGe, Fellay et al. Nature 2009
  • 15. 018.748.40.8100102030405060CCn=18ACn=252AAn=1,010Percentagers727010104.547.69.30102030405060AAn=10CAn=156CCn=1,114Percentagers1127354Hb decline >3g/dLHb level <10g/dLITPA-deficiency ITPA-deficiencyFellay et al. Nature 2010Hemoglobin drop, by ITPA genotypes and predicted functionITPA genotype and anti-HCVtreatment-induced anemia
  • 16. Who needs therapy?Will therapy be effective?When to start?Which drug regimen?For how long?Will therapy be tolerated?The clinical management of patients suffering from chronichepatitis C virus infection represents an ideal setting todemonstrate the relevance of personalized medicineA. Rauch & J. Fellay
  • 17. Phase 1b trials:• Comparable efficacy to IFN-a• Synergistic effect with IFN-a• Less side effects- tissue specific receptor expressionInterferon-lambda: a promising HCV drug
  • 18. - It starts here and now- It raises extremely broad issues Across many fields: medicine, research, economy,law, ethics, philosophy…- It offers many avenues for job opportunities Development of new industry focused onnanotechnology, medical IT, digitalization,biobanking, impact assessment, wellness, etc.Personalized health
  • 19. By fostering programs of basic & applied research in:-Genetics, genomics, proteomics, metabolomics-Integrative (“systems”) biology and medicine-Bioinformatics / Biomathematics (data analysis)-Computational biology / modeling / imaging-Computer sciences (data management /encryption)-Ethics, law and economicsPersonalized health: how to get there?Research
  • 20. By training trans-disciplinary scientists, engineers andmedical doctors, for instance through the teaching of:-“Medicine 101” for scientists and engineers-Quantitative sciences and technology for medicalstudentsPersonalized health: how to get there?Education
  • 21. Through the creation of funding mechanisms that allowthe creation, maintenance and staffing of state-of-the-art“technolomics” R&D platforms, needed both for researchin “systems medicine” and for clinical applications.Through an in-depth reflection on (targeted) biobanking.Through discussion / collaboration between nationalbodies in charge of health care and biomedical research.Personalized health: how to get there?Infrastructure
  • 22. By educating the population and keeping it properlyinformed about the potential, progress and limitations ofpersonalized health, allowing for a public debate of allrelevant issues, and the exploitation of social networksPersonalized health: how to get there?Social framework
  • 23. PATIENT SOCIETYDigital dataHealthinformationClinicalinterfaceData generationData analysisClinical translationPrivacy & EthicsEducation & TrainingA virtual “Digital Medicine Campus”in Western Switzerland?
  • 24. More than 60 medical, research and advocacy organizationsin 41 countries formed a global alliance to share patientsgenetic and clinical information in an effort to "dramaticallyaccelerate medical progress" in determining the biologicalbases of inherited and infectious diseases, as well as shedlight on the effects of various treatments on different patients.
  • 25. Thank you!