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Personalized Medicine and You!



                                               Melanie Swan
                                                    Founder
                                               DIYgenomics
Health Technology Forum                     +1-650-681-9482
                                             @DIYgenomics
September 27, 2012, San Francisco, CA
                                         www.DIYgenomics.org
Slides: http://slideshare.net/LaBlogga    m@melanieswan.com
The Realization of Preventive Medicine
        Condition Lifecycle
                 80% Pre-Clinical                                                                                     20% Clinical

          Telemedicine                Health Collaboration                                                                Hospital Re-admit
                Social Health Media      Communities                                                                     Reduction Programs
                                                 Disease Risk
         Personal Health          Consumer        Prevention                                                                         Personalized
         Records (PHRs)           Genomics
                                              Crowdsourced                                                                            Molecular
        eHealth         Participatory         Health Studies                                                                         Diagnostics
       Initiatives       Medicine       Health Social                                                                   Personalized
                       P4                                          Networks                                               Cancer
      Health
                     Medicine              Wellness                                                                      Treatment
      Coach                                                            Higher-deductible
                                           Profiling
                                                                          insurance
       Mobile                      Quantified Self-                                                                             Home Monitoring
     Health Apps                  tracking Devices                               Biosensors                                       Programs

         (Light)                           Engagement                                  (Heavy)

                      Swan, M. Health 2050: The Realization of Personalized Medicine through Crowdsourcing, the Quantified Self, and the Participatory
September 27, 2012
                            Biocitizen. J Pers Med 2012, 2(3), 93-118.                                                                                   2
DIYgenomics.org
Health Social Networks and Collaboration



                                                                                                               Health
                     Health Social                                                                          Collaboration
                      Networks                                                                              Communities




                     Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
September 27, 2012   personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525.                       3
DIYgenomics.org
DIYgenomics: Research Model
       Goal: preventive medicine
             Realize preventive medicine through predictive risk profiling,
              determining baseline markers of wellness and variability, and
              engaging in personalized pre-clinical interventions

       Generalized hypothesis
             One or more polymorphisms may result in out-of-bounds
              baseline levels of phenotypic markers which may be
              ameliorated through personalized intervention


          Genotype              + Phenotype + Intervention =                                                                   Outcome

Vitamin B Study: MTHFR SNPs + Vitamin B & Homocysteine Blood Test + Vitamin B = Personalized Outcomes

   September 27, 2012   Source: Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for crowdsourced
                        preventive medicine research. J Participat Med. 2010, Dec 23; 2:e20.                                                        4
   DIYgenomics.org
Big Data: Integrating Health Data Streams
   New Data Streams                         Traditional Data Streams                                                    Quantified Self
                                                                                                                        Data Streams
            Genome
          SNP mutations                                 Personal and Family                                                Self-reported data:
        Structural variation                               Health History                                                   health, exercise,
            Epigenetics                                                                                                        food, mood
                                                                                                                             journals, etc.
           Microbiome
                                                         Prescription History

         Transcriptome                                                                                                       Mobile App Data
                                                          Lab Tests: History
           Metabolome                                        and Current

                                                                                                                               Quantified Self
            Proteome                                     Demographic Data                                                       Device Data


           Diseasome                                          Standardized
                                                                                                                             Biosensor Data
                                                               Instrument
                                                                                                                            Objective Metrics
        Environmentome                                         Response


                     Swan, M. Health 2050: The Realization of Personalized Medicine through Crowdsourcing, the Quantified Self, and the Participatory
September 27, 2012
                           Biocitizen. J Pers Med 2012, 2(3), 93-118.                                                                                   5
DIYgenomics.org                                                                              Legend: Consumer-available
Sensor Mania!
  Wearable Electronics

Smartwatch (Pebble) and Smartring (ElectricFoxy)
 Electronic tattoos (mc10), $1 blood API (Sano
  Intelligence), and Electronic T-shirt (Carre)
       Dried blood spot testing (ZRT Lab)                                                                          Image credit: Cisco

        Continuous Monitors (Medtronic)




      The Brain: 24/7 Consumer EEG, Eye-tracking, Emotion Mapping, Augmented Reality Glasses




 September 27, 2012   Source: Swan, M. Sensor Mania! The Internet of Things, Objective Metrics, and the Quantified Self 2.0.
                      J Sens Actuator Netw 2012, submitted.                                                                              6
 DIYgenomics.org
Operated on:

 DIYgenomics Memory Study




September 27, 2012
                                           7
DIYgenomics.org
13 DIYgenomicsGenotype + Phenotype + Intervention
                 Studies in Open                                                                                              =
                                                                                                                                  Outcome


 Enrollment
     Sleep, Genomics, and Caffeine
           20 sleep SNPs + 3 standardized sleep
            instruments + myZeo + caffeine intervention
     Empathy
           OXTR SNP + IRI (Interpersonal Reactivity Index)
            + Personal Virtual Coach
     Microbiome
           Human gut disease risk SNPs + Microbiome
            Sequencing + Questionnaire + Probiotic
     Diabesity prevention
           Diabetes & obesity risk SNPs + Hemoglobin &
            other blood tests + Glucometer tracking
                                         Full List: http://ww.DIYgenomics.org
September 27, 2012   Source: Swan, M. Sensor Mania! The Internet of Things, Objective Metrics, and the Quantified Self 2.0.
                     J Sens Actuator Netw 2012, submitted.                                                                             8
DIYgenomics.org
Genotype       Phenotype       Intervention                    Outcome
                                                      +               +                        =

 DIYgenomics Studies in Design
     Predictive Risk Profiling
         Immune System and Diseasome
         Environmentome (Body Burden and Capacity)
         Cancer Risk and Drug Response



     Mental Performance Optimization
         Creativity
         Learning
         Flow State

                                                                              Image credit: http://sciencemag.org


     Diabesity Prevention
           Do you have a Sweet Tooth? Genomics and Dietary Preference
September 27, 2012   Source: DIYgenomics
                                                                                                                    9
DIYgenomics.org
Personalized Preventive Medicine and You!
                                           1. Continuous health information climate
                                    Automated digital health monitoring, self-tracking devices,
                                    and mobile apps providing personalized recommendations



                                                                                2. Peer collaboration and
                                                                                     health advisors
                                                                          Health social networks, crowdsourced
                                                                           studies, health advisors, wellness
                                                                            coaches, preventive care plans,
                     Individual                                          boutique physicians, genetics coaches,
                                                                             aestheticians, medical tourism



                                                                               3. Public health system
                                                                  Deep expertise of traditional health system
                                                                     for disease and trauma treatment

                      Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
September 27, 2012
                      personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525.                       10
DIYgenomics.org
DIYgenomics Press Coverage
                      "...'accelerating the professionalization' of do-it-
                     yourself studies" - March 2012

                     "Ordinary people are taking control of their health
                     data" - December 2011

                     "A group called DIYgenomics has banded together to
                     analyse their genomes, and even conduct and
                     participate in small clinical trials" - October 2010

                     "...early adopters are showing how empowering and
                     beneficial to science personal genetic information can
                     be" - September 2010

                     "...they wanted to build a model trial that could be
                     easily replicated by citizen scientists anywhere" -
                     March 2011

September 27, 2012
                                                                             11
DIYgenomics.org
Crowd-sourced clinical trials
                                 Personal genome apps
                                                                      Thank you!

  Collaborators:                                                 International collaborations:
  Lorenzo Albanello              Marat Nepomnyashy
  Janet Chang                    Ted Odet                        JST and Rikengenesis
  Cindy Chen                     Roland Parnaso                  Takashi Kido
  John Furber                    Thomas Pickard                  Minae Kawashima
  Hong Guo                       William Reinhardt               Jin Yamanaka
  Kristina Hathaway              Greg Smith
  Laura Klemme                   Aaron Vollrath                  University Hospitals of Geneva
  Priya Kshirsagar               Lawrence S. Wong                Louis Nahum
  Lucymarie Mantese                                              Armin Schnider         Melanie Swan
                                                                                             Founder
  Raymond McCauley                                                                      DIYgenomics
                                                                                     +1-650-681-9482
                                                                                      @DIYgenomics
                                                                                   www.DIYgenomics.org
Creative Commons 3.0 license            Slides: http://slideshare.net/LaBlogga     m@melanieswan.com

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Personalized Medicine and You!

  • 1. Personalized Medicine and You! Melanie Swan Founder DIYgenomics Health Technology Forum +1-650-681-9482 @DIYgenomics September 27, 2012, San Francisco, CA www.DIYgenomics.org Slides: http://slideshare.net/LaBlogga m@melanieswan.com
  • 2. The Realization of Preventive Medicine Condition Lifecycle 80% Pre-Clinical 20% Clinical Telemedicine Health Collaboration Hospital Re-admit Social Health Media Communities Reduction Programs Disease Risk Personal Health Consumer Prevention Personalized Records (PHRs) Genomics Crowdsourced Molecular eHealth Participatory Health Studies Diagnostics Initiatives Medicine Health Social Personalized P4 Networks Cancer Health Medicine Wellness Treatment Coach Higher-deductible Profiling insurance Mobile Quantified Self- Home Monitoring Health Apps tracking Devices Biosensors Programs (Light) Engagement (Heavy) Swan, M. Health 2050: The Realization of Personalized Medicine through Crowdsourcing, the Quantified Self, and the Participatory September 27, 2012 Biocitizen. J Pers Med 2012, 2(3), 93-118. 2 DIYgenomics.org
  • 3. Health Social Networks and Collaboration Health Health Social Collaboration Networks Communities Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer September 27, 2012 personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525. 3 DIYgenomics.org
  • 4. DIYgenomics: Research Model  Goal: preventive medicine  Realize preventive medicine through predictive risk profiling, determining baseline markers of wellness and variability, and engaging in personalized pre-clinical interventions  Generalized hypothesis  One or more polymorphisms may result in out-of-bounds baseline levels of phenotypic markers which may be ameliorated through personalized intervention Genotype + Phenotype + Intervention = Outcome Vitamin B Study: MTHFR SNPs + Vitamin B & Homocysteine Blood Test + Vitamin B = Personalized Outcomes September 27, 2012 Source: Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for crowdsourced preventive medicine research. J Participat Med. 2010, Dec 23; 2:e20. 4 DIYgenomics.org
  • 5. Big Data: Integrating Health Data Streams New Data Streams Traditional Data Streams Quantified Self Data Streams Genome SNP mutations Personal and Family Self-reported data: Structural variation Health History health, exercise, Epigenetics food, mood journals, etc. Microbiome Prescription History Transcriptome Mobile App Data Lab Tests: History Metabolome and Current Quantified Self Proteome Demographic Data Device Data Diseasome Standardized Biosensor Data Instrument Objective Metrics Environmentome Response Swan, M. Health 2050: The Realization of Personalized Medicine through Crowdsourcing, the Quantified Self, and the Participatory September 27, 2012 Biocitizen. J Pers Med 2012, 2(3), 93-118. 5 DIYgenomics.org Legend: Consumer-available
  • 6. Sensor Mania! Wearable Electronics Smartwatch (Pebble) and Smartring (ElectricFoxy) Electronic tattoos (mc10), $1 blood API (Sano Intelligence), and Electronic T-shirt (Carre) Dried blood spot testing (ZRT Lab) Image credit: Cisco Continuous Monitors (Medtronic) The Brain: 24/7 Consumer EEG, Eye-tracking, Emotion Mapping, Augmented Reality Glasses September 27, 2012 Source: Swan, M. Sensor Mania! The Internet of Things, Objective Metrics, and the Quantified Self 2.0. J Sens Actuator Netw 2012, submitted. 6 DIYgenomics.org
  • 7. Operated on: DIYgenomics Memory Study September 27, 2012 7 DIYgenomics.org
  • 8. 13 DIYgenomicsGenotype + Phenotype + Intervention Studies in Open = Outcome Enrollment  Sleep, Genomics, and Caffeine  20 sleep SNPs + 3 standardized sleep instruments + myZeo + caffeine intervention  Empathy  OXTR SNP + IRI (Interpersonal Reactivity Index) + Personal Virtual Coach  Microbiome  Human gut disease risk SNPs + Microbiome Sequencing + Questionnaire + Probiotic  Diabesity prevention  Diabetes & obesity risk SNPs + Hemoglobin & other blood tests + Glucometer tracking Full List: http://ww.DIYgenomics.org September 27, 2012 Source: Swan, M. Sensor Mania! The Internet of Things, Objective Metrics, and the Quantified Self 2.0. J Sens Actuator Netw 2012, submitted. 8 DIYgenomics.org
  • 9. Genotype Phenotype Intervention Outcome + + = DIYgenomics Studies in Design  Predictive Risk Profiling  Immune System and Diseasome  Environmentome (Body Burden and Capacity)  Cancer Risk and Drug Response  Mental Performance Optimization  Creativity  Learning  Flow State Image credit: http://sciencemag.org  Diabesity Prevention  Do you have a Sweet Tooth? Genomics and Dietary Preference September 27, 2012 Source: DIYgenomics 9 DIYgenomics.org
  • 10. Personalized Preventive Medicine and You! 1. Continuous health information climate Automated digital health monitoring, self-tracking devices, and mobile apps providing personalized recommendations 2. Peer collaboration and health advisors Health social networks, crowdsourced studies, health advisors, wellness coaches, preventive care plans, Individual boutique physicians, genetics coaches, aestheticians, medical tourism 3. Public health system Deep expertise of traditional health system for disease and trauma treatment Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer September 27, 2012 personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525. 10 DIYgenomics.org
  • 11. DIYgenomics Press Coverage "...'accelerating the professionalization' of do-it- yourself studies" - March 2012 "Ordinary people are taking control of their health data" - December 2011 "A group called DIYgenomics has banded together to analyse their genomes, and even conduct and participate in small clinical trials" - October 2010 "...early adopters are showing how empowering and beneficial to science personal genetic information can be" - September 2010 "...they wanted to build a model trial that could be easily replicated by citizen scientists anywhere" - March 2011 September 27, 2012 11 DIYgenomics.org
  • 12. Crowd-sourced clinical trials Personal genome apps Thank you! Collaborators: International collaborations: Lorenzo Albanello Marat Nepomnyashy Janet Chang Ted Odet JST and Rikengenesis Cindy Chen Roland Parnaso Takashi Kido John Furber Thomas Pickard Minae Kawashima Hong Guo William Reinhardt Jin Yamanaka Kristina Hathaway Greg Smith Laura Klemme Aaron Vollrath University Hospitals of Geneva Priya Kshirsagar Lawrence S. Wong Louis Nahum Lucymarie Mantese Armin Schnider Melanie Swan Founder Raymond McCauley DIYgenomics +1-650-681-9482 @DIYgenomics www.DIYgenomics.org Creative Commons 3.0 license Slides: http://slideshare.net/LaBlogga m@melanieswan.com