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DIYgenomics crowdsourced health studies: personal wellness and preventive medicine through collective intelligence

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DIYgenomics crowdsourced health studies:
personal wellness and preventive medicine through
               collective intelligence



                                                      Melanie Swan
                                                           Founder
AAAI 2012 Spring Symposium                            DIYgenomics
Self-Tracking and Collective Intelligence for      +1-650-681-9482
Personal Wellness                                   @DIYgenomics
                                                www.DIYgenomics.org
March 26, 2012, Stanford University              m@melanieswan.com
Slides: http://slideshare.net/LaBlogga
About Melanie Swan
     Founder DIYgenomics, futurist and applied
      genomics expert
     Current projects: MelanieSwan.com
     Education: MBA Finance, Wharton; BA
      French/Economics, Georgetown Univ
     Work experience: Fidelity, JP Morgan, iPass,
      RHK/Ovum, Arthur Andersen
     Sample publications:
         Swan, M. Crowdsourced Health Research Studies: An Important Emerging Complement to Clinical
          Trials in the Public Health Research Ecosystem. J Med Internet Res 2012, Mar;14(2):e46.
         Swan, M. Scaling crowdsourced health studies: the emergence of a new form of contract research
          organization. Personalized Medicine 2012, Mar;9(2):223-234.
         Swan, M. Steady advance of stem cell therapies. Rejuvenation Res 2011, Dec;14(6):699-704.
         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.
         Swan, M. Multigenic Condition Risk Assessment in Direct-to-Consumer Genomic Services. Genet Med
          2010, May;12(5):279-88.
         Swan, M. Emerging patient-driven health care models: an examination of health social networks,
          consumer personalized medicine and quantified self-tracking. Int J Environ Res Public Health 2009, 2,
          492-525.

March 26, 2012        Source: http://melanieswan.com/publications.htm
                                                                                                             2
DIYgenomics.org
Top 10 collective intelligence health trends


                                                   Automated self-
                                                   tracking devices
        Image credit:               Personal                          Microbiomics
http://www.dreamstime.com
                                  health records
               Social media                    Crowdsourced
                                               health studies         Blood tests 2.0
                             Smartphone
                             health apps                  Health
                                                          advisor
                       Health social                                  Whole human
                                           Personalized                 genome
                        networks            genomics                   sequencing

               2010                            2015                      2020+

March 26, 2012
                                                                                        3
DIYgenomics.org
Agenda
     Introduction: context for participatory health
     Participant-driven health initiatives
         Social media, smartphone health apps, PHRs
         Personalized genomics
         Crowdsourced studies

     Next-generation participatory health
     Conclusion




                                               Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
                                                                                                  4
DIYgenomics.org
Information transmission eras
    Analog              Digital         Life code    ?
17,300 years ago    1455&1950-2000      2000-2100   2100+
Painting, scrolls   Press, Transistor     DNA         ?




 March 26, 2012
                                                            5
 DIYgenomics.org
Artificial intelligence eras
Enumeration         Biomimicry      Big data         ?
       1950s          1990s+          2000s+        2100+
Expert syst, CYC   NLP, HTM, NCC   Google, Watson     ?




 March 26, 2012
                                                            6
 DIYgenomics.org
Big data: personal health informatics

                                            DNA:
                                         SNP mutations                                                        RNA expression
                                                                                                                 profiling


                                                                        Health 2.0:                                                        Proteomics
           DNA: Structural                                           Personal health
             variation                                                 informatics



                                     Epigenetics                                                                 Microbiomics


                                                                           Metabolomics


March 26, 2012    Academic papers re: integrated health data streams: Auffray C, et al. Looking back at genomic medicine in 2011. Genome Med. 2012 Jan 30;4(1):9.
                        Chen R et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell. 2012 Mar 16;148(6):1293-307.                 7
DIYgenomics.org
Big data: collective intelligence computing

                              Crowdsourcing
                                                    Concierge research

      Consumer genomics                                      Citizen science
                                    Health 2.0:
 Consumer blood tests             Crowdsourced
                                 health computing
                                                            DIYbio labs

              Continuous                        Ambient mental
               sampling                          performance
                           Quantified self-
                                                 optimization
                             tracking



March 26, 2012
                                                                          8
DIYgenomics.org
Rising worldwide health care costs




March 26, 2012    Source: http://www.kff.org/insurance/snapshot/OECD042111.cfm
                                                                                 9
DIYgenomics.org
Woeful state of global public health systems
     Rising health care costs

     Aging worldwide populations

     Anticipated physician shortages

     Cost per new drug: $1.5 billion                                                                           Image credit: http://www.boomertownsquare.com



        New  drug apps: 23 in 2011 vs. 45 in 1996
        Biotechnology investment reticence1



     Solution: big health data and crowdsourced computing
March 26, 2012    1
                      Source: http://www.innovationnewsdaily.com/medical-innovation-pharmaceutical-drugs-2090
                                                                                                                                                      10
DIYgenomics.org
Agenda
     Introduction: context for participatory health
     Community computing health initiatives
         Social media, smartphone health apps, PHRs
         Personalized genomics
         Crowdsourced studies

     Next-generation participatory health
     Conclusion




                                               Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
                                                                                                  11
DIYgenomics.org
Participatory health definition
     Health 2.0, Medicine 2.0, eHealth (2008)
           “Use of a specific set of Web [2.0] tools (blogs, Podcasts,
            tagging, search, wikis, [health social networks], etc.) by
            actors in health care including doctors, patients, and
            scientists, using principles of…in order to personalize
            health care, collaborate, and promote health education” 1


     Society for Participatory Medicine (2010)
           “Participatory Medicine is a movement in which networked
            patients shift from being mere passengers to responsible
            drivers of their health, and in which providers encourage
            and value them as full partners”2

                                                                                          Image credit: http://ramialsindi.wordpress.com


March 26, 2012    1
                      Source: http://en.wikipedia.org/wiki/Medicine_2.0#cite_note-jmir.org-3
                      Source: http://e-patients.net/archives/2010/04/a-patient-centric-definition-of-participatory-medicine.html           12
DIYgenomics.org   2
Participatory health activities
         (Light)                 Level of Engagement                         (Heavy)
       Social        Mobile         PHRs                Consumer   Health social networks
       media       health apps    (personal             genomics    and crowd-sourced
                                    health                             health studies
                                   records)




                                     Image credit: Getty Images


March 26, 2012
                                                                                            13
DIYgenomics.org
Health 2.0 social media
       Web 2.0 in the health context
       Blogs, twitter, facebook, wikis,
        search, google+, video
                                           Image credit: http://www.siliconangle.com




March 26, 2012
                                                                                       14
DIYgenomics.org
Social media increases responsibility-taking
     27% of US internet users track health data online1
     41% of European physicians believe social media will
      play an increasingly important role in shaping patient
      management and treatment2




                      Image credit: http://www.americanwell.com                                             Image credit: http://www.3gdoctor.com




March 26, 2012    1
                      Source: http://www.pewinternet.org/Reports/2011/Social-Life-of-Health-Info.aspx
                  2
                      Source: http://www.worldofhealthit.org/sessionhandouts/documents/PS34-1-DeniseSilber.pdf                                      15
DIYgenomics.org
Smartphone as personal doctor
     Mobile is the platform                                                                                                             Image credit: http://www.psfk.com

           US: more cell phones (328 m) than people (315 m)                                                                      1


     Worldwide smartphone users
         One billion+ by 20132
         81% physicians using smartphones 20123

     Explosive growth in application (app) downloads
           5 billion in 2010 versus 300 million in 20094
     Health-related apps: 7,0004                                                                                                     Image credit: tehgaygeek.blogspot.com


           Studies: thousands recruited in months2
     Intimate continuous interaction platform
         Phone loss noticed within 5 minutes vs. 1 hour for wallet loss
         Kids chat with Siri as virtual friend
                  1
                    Kang C. Number of cell phones exceeds US population. Washington Post. October 11, 2011.
March 26, 2012    2
                    Dufau S. Smart phone, smart science: how the use of smartphones can revolutionize research in cognitive science. PLoS One. 2011.
                  3Kiser K. 25 ways to use your smartphone. Physicians share their favorite uses and apps. Minn Med. 2011.                                       16
DIYgenomics.org
                  4
                    Boulos MN. How smartphones are changing the face of mobile and participatory healthcare. Biomed Eng Online. 2011.
PHRs (personal health records)
     Patient-administered medical records
                                                        Image credit: http://mymedsphr.com




     PHR use is growing
         11% PHR use in 2011, +3% from 2008
          (Deloitte)                                Image credit: http://www.mobihealthnews.com

         Aetna 1.5 million users (Sep 2011)



     Improved health outcomes
         PHR users 68% better at following up on
          recommended care
         Empowers health self-management, more
          active role

March 26, 2012
                                                                                    17
DIYgenomics.org
Health social networks and collaboration




                                  Health social                                                                          Health
                                   networks                                                                          collaboration
                                     (global & local)                                                                communities




                  Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
March 26, 2012    personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525.                       18
DIYgenomics.org
Agenda
     Introduction: context for participatory health
     Participant-driven health initiatives
         Social media, smartphone health apps, PHRs
         Personalized genomics
         Crowdsourced studies

     Next-generation participatory health
     Conclusion




                                               Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
                                                                                                  19
DIYgenomics.org
Personalized genomics definition
     Using genetic sequencing profiles of individuals in
      health and wellness decisions
     Consumer cost = $99
           International availability, 100,000+ subscribers


                                              Allele, variant, SNP (single nucleotide
                                              polymorphism); “typo” in red; normal in
                                              green
                                             Example: rs1801133 AG AA, AG, GG


                                               Example: rs7412 CT     CC, CT, TT
            Image credit: http://123RF.com




March 26, 2012
DIYgenomics.org
Numerous useful applications of genomics
1.    Established
         Ancestry
         Carrier status
         Identity (paternity, forensics)

2.    Maturing
         Health condition risk1
         Pharmaceutical response2

3.    Novel
         Athletic performance capability
         OTC product response
         Environment/toxin processing                                                                        Image credit: http://bit.ly/fovpJc



4.    Farther future
            Predictive wellness profiling: aging, cancer, immune response

March 26, 2012
                   1
                       Source: Swan M. Multigenic condition risk assessment in direct-to-consumer genomic services. Genet Med. 2010 May;12(5):279-88.
                   2
                       Source: http://www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm                                    21
DIYgenomics.org
23andMe colorectal cancer marker




March 26, 2012    Source: http://www.23andme.com
                                                   22
DIYgenomics.org
Pathway Genomics drug response




March 26, 2012    Source: http://www.pathway.com
                                                   23
DIYgenomics.org
Consumer genomics comparison scorecard
         Which service to buy?
       Consumer                         #                   Cost                   Report                 Data                Visible                 Updates
     genomic service                 Cond-                                                               access              research
                                     itions                                                                                   quality1
                                         49                $2,000                     +                                         +                   
                                       214                    $99                                                                                   +
                                         40                 $999
*                                                                                                                                
                                         71                 $299
*                                                                                     
                                         15                 public
                                                            study
                                        n/a                 public
                                                            study

            *Physician prescription required
    March 26, 2012
                        1
                            Conditions, genes, variants, underlying research references, and methodology white paper(s) available on public website
    DIYgenomics.org
Open-source mobile apps (5,000+ downloads)
     Health condition, drug
      response, athletic
      performance capability                                                        T T T

     Private 23andMe data upload                                                   T T T


                                                                                    T C C
     Android
  “genomics or
  DIYgenomics”

     iPhone



March 26, 2012    Android development: Michael Kolb, Lawrence S. Wong, Laura Klemme, Melanie Swan
                  iOS development: Ted Odet, Greg Smith, Laura Klemme, Melanie Swan                 25
DIYgenomics.org
Example: what to do with your data




     Check if you have the risk allele for the BDNF gene
     Determine related SNP/rsID#, rs6265 (neuroplasticity)
     Search genomic data for rs6265 genotype (e.g., CC)
     Determine the risk allele (which letter?) (e.g.; G1)
     Current genomics search resources
        PharmGKB, dbSNP, GWAS catalog, SNPedia




March 26, 2012    Source: http://www.wired.com/wiredscience/2009/10/genetically-bad-driving
                  1
                    Ribeiro, L. et. Al., The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans. Cellular,
DIYgenomics.org            Molecular and Developmental Neuroscience. May 8, 2007.                                                                              26
Finding your BDNF data, variant rs6265
       Consumer genomic
        services genotype 1
        million variants but only
        map a few up to the
        annotation browser




March 26, 2012
DIYgenomics.org                          27
Athletic performance




March 26, 2012    Source: http://www.genome.duke.edu/education/seminars/journal-club/documents/Assael_2009.pdff, Swan, M. Applied
                         genomics: personalized interpretation of athletic performance GWAS. 2012. In press.                        28
DIYgenomics.org
Genome politics and regulation
     Our world is not Gattaca
       Personal genomics has
        destigmatized health issues

     Issues: human cloning, sex selection,
      genetic privacy, non-discrimination
        UN Convention on Human Rights and
         Biomedicine 1997 (Ch IV Human Genome)        Image credit: http://www.sonypictures.com


        U.S. Genetic Information Nondiscrimination
         Act (GINA) 2008


     Biocitizenry, health as a human right             Image credit: http://sciencephoto.com


March 26, 2012                                                                              29
DIYgenomics.org
Agenda
     Introduction: context for participatory health
     Participant-driven health initiatives
         Social media, smartphone health apps, PHRs
         Personalized genomics
         Crowdsourced studies

     Next-generation participatory health
     Conclusion




                                               Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
                                                                                                  30
DIYgenomics.org
DIYgenomics
    Goal: preventive medicine                                                                               Image credit: stemcellumbilicalcordblood.com


          Realize preventive medicine by establishing baseline markers
           of wellness and pre-clinical interventions

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



       Genotype           + Phenotype + Intervention =                                                                   Outcome


March 26, 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.                                                                      31
DIYgenomics.org
DIYgenomics participant-organized studies
    7 studies in open enrollment (vitamin deficiency, aging, and
     mental performance); 5 in design (oncology, calcinosis)




March 26, 2012    Source: Swan, M., Crowdsourced health research studies. J Med Internet Res 2012, Mar;14(2):e46   32
DIYgenomics.org
Mar 2012: 300+ community members,
Genomera                     20 studies with 10-65 enrollees
                                   Site access through
‘eBay of health studies’          www.DIYgenomics.org




March 26, 2012
                                                       33
DIYgenomics.org
Image credit: http://bit.ly/g2DIcW




DIYgenomics memory study




                                                                                                     Goal: 100 member cohort
                                                                                                     •Genotype: COMT, DRD2,
                                                                                                     SLC6A3 (~5 SNPs)
                                                                                                     (neurotransmitter modulation)
                                                                                                     •Phenotype: memory test (20-25
                                                                                                     minutes)
                                                                                                     •Background questionnaire




March 26, 2012    Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
                                                                                                                                       34
DIYgenomics.org
DIYgenomics Retin-A skin cream study
     Genetic profiling can predict Retin-A side-effects?




March 26, 2012    Source: http://genomera.com/studies/retin-a-wonder-cream-for-acne-and-wrinkles-is-there-a-genomic-link
                                                                                                                           35
DIYgenomics.org
DIYgenomics TA-65 aging study
     Telomerase genes, telomere length, and intervention
     Telomere-lengthening and immune system benefits (Harley
      CB et al, Rejuvenation Res, 2011, de Jesus BB et al, Aging Cell, 2011)




March 26, 2012      Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
                                                                                                                  36
DIYgenomics.org
Crowdsourced health studies1
                                                                    DIYgenomics MTHFR Vitamin B deficiency study2
     Definition:
                                                                                              1. Genotype profiles
           Research studies that
            derive participants and
            data from a large group
            of people through an
            open call
     Researcher-organized
                                                                                            2. Homocysteine levels
         PatientsLikeMe                                               umol/l

         23andMe

     Participant-organized
         Quantified Self
         Genomera
                                                                                                                                 Blood Test #
         DIYgenomics                                                     Baseline Centrum          LMF      C + LMF      Baseline

                  1
                   Source: Swan, M., Crowdsourced health research studies. J Med Internet Res 2012, Mar;14(2):e46
March 26, 2012    2
                   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.                                                           37
DIYgenomics.org
                  Results are not statistically significant and intended as a pilot demonstration
Genotype   +   Phenotype   +   Intervention     =         Outcome


Standard study protocol – methodology
     Collect relevant genomic SNP data
           Literature search for polymorphisms associated with condition
     Measure relevant phenotypes before and after (typical
      study duration = 1 month)
         Quantitative measures: blood test, self-tracking device data
         Qualitative measures: user surveys

     Intervention (n=100 to 1000)
         Group A: nothing (control)
         Group B: intervention 1 (experimental group 1)
         Group C: intervention 2 (experimental group 2)                          Image credit: http://sciencemag.org


     Advisors: confirm protocol design with two independent
      academics or professionals in the field
March 26, 2012    Source: DIYgenomics
                                                                                                            38
DIYgenomics.org
Agenda
     Introduction: context for participatory health
     Participant-driven health initiatives
         Social media, smartphone health apps, PHRs
         Personalized genomics
         Crowdsourced studies

     Next-generation participatory health
     Conclusion




                                               Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
                                                                                                  39
DIYgenomics.org
Role of participatory health: future medicine
                                        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

March 26, 2012     Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
                   personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525.                       40
DIYgenomics.org
Health self-management
                               A new model of health and health care




March 26, 2012    Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
                  personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525, Figure 1.             41
DIYgenomics.org
Ontological shift


                                        Image credit: http://efx3.com



                       Old thinking:
      My health is the responsibility of my physician

                   New thinking:
            My health is my responsibility
   … and I have the tools to make managing it easy


March 26, 2012
                                                                        42
DIYgenomics.org
Biotechnicity and computational philosophy

                                                                                   Metaphysical shift: new ways of being
                                                                                   •Meaning of health and health outcomes
                                                                                   •Sense of self and group identity, biocitizenry
Image credit: http://stemcellresources.org


                                                  Epistemic advance: new knowledge generation
                                                  •Content: New data streams, larger data sets, more granular data, higher
                                                  order magnitude science
                                                  •Process: New algorithms and new models


       Computational tools of health-related philosophical discovery
       •Hardware and software devices and algorithms: quantitative health data streams, health-
       related smartphone applications, personal electronic health records, quantified self-
       tracking devices
       •Crowdsourced human computing networks: crowdsourced disease prediction, health
       social networks, quantified self n=1 health self-experimentation, crowdsourced health
       research studies, DIYbio labs




     March 26, 2012                  Source: Swan, M. Biotechnicity 2.0: Computation-enabled Philosophical Advance in the Epistemology of Human Biology and the
                                     Ontology of Bioidentity. 2012. Submitted.                                                                                    43
     DIYgenomics.org
Agenda
     Introduction: context for participatory health
     Participant-driven health initiatives
         Social media, smartphone health apps, PHRs
         Personalized genomics
         Crowdsourced studies

     Next-generation participatory health
     Conclusion




                                               Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
                                                                                                  44
DIYgenomics.org
Top 10 collective intelligence health trends


                                                   Automated self-
                                                   tracking devices
        Image credit:               Personal                          Microbiomics
http://www.dreamstime.com
                                  health records
               Social media                    Crowdsourced
                                               health studies         Blood tests 2.0
                             Smartphone
                             health apps                  Health
                                                          advisor
                       Health social                                  Whole human
                                           Personalized                 genome
                        networks            genomics                   sequencing

               2010                            2015                      2020+

March 26, 2012
                                                                                        45
DIYgenomics.org
Image credit: http://www.sldesigns.com




But wait…
                  Drawbacks to participatory health

 • Health hobbyist niche, not mainstream

 • Perceptions of health: negative, deterministic

 • Anemic participation in health collaboration communities

 • Financial incentives required for self health monitoring

 • Unclear how to incorporate into public health systems


March 26, 2012
                                                                                46
DIYgenomics.org
Summary: community health computing
     The right solution at the right time
           Embedded in the public health ecosystem


     Biotechnicity = the transistor of the 21st century
                                                                       Image credit: http://sciencephoto.com



     Advances in participatory health computing
    Social media     Mobile        PHRs      Consumer   Health social networks and
                   health apps   (personal   genomics     crowd-sourced health
                                   health                        studies
                                  records)


     Participatory health is integral to realizing the
      personalized, preventive medicine of the future
March 26, 2012
                                                                                               47
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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DIYgenomics community computing health models

  • 1. DIYgenomics crowdsourced health studies: personal wellness and preventive medicine through collective intelligence Melanie Swan Founder AAAI 2012 Spring Symposium DIYgenomics Self-Tracking and Collective Intelligence for +1-650-681-9482 Personal Wellness @DIYgenomics www.DIYgenomics.org March 26, 2012, Stanford University m@melanieswan.com Slides: http://slideshare.net/LaBlogga
  • 2. About Melanie Swan  Founder DIYgenomics, futurist and applied genomics expert  Current projects: MelanieSwan.com  Education: MBA Finance, Wharton; BA French/Economics, Georgetown Univ  Work experience: Fidelity, JP Morgan, iPass, RHK/Ovum, Arthur Andersen  Sample publications:  Swan, M. Crowdsourced Health Research Studies: An Important Emerging Complement to Clinical Trials in the Public Health Research Ecosystem. J Med Internet Res 2012, Mar;14(2):e46.  Swan, M. Scaling crowdsourced health studies: the emergence of a new form of contract research organization. Personalized Medicine 2012, Mar;9(2):223-234.  Swan, M. Steady advance of stem cell therapies. Rejuvenation Res 2011, Dec;14(6):699-704.  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.  Swan, M. Multigenic Condition Risk Assessment in Direct-to-Consumer Genomic Services. Genet Med 2010, May;12(5):279-88.  Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer personalized medicine and quantified self-tracking. Int J Environ Res Public Health 2009, 2, 492-525. March 26, 2012 Source: http://melanieswan.com/publications.htm 2 DIYgenomics.org
  • 3. Top 10 collective intelligence health trends Automated self- tracking devices Image credit: Personal Microbiomics http://www.dreamstime.com health records Social media Crowdsourced health studies Blood tests 2.0 Smartphone health apps Health advisor Health social Whole human Personalized genome networks genomics sequencing 2010 2015 2020+ March 26, 2012 3 DIYgenomics.org
  • 4. Agenda  Introduction: context for participatory health  Participant-driven health initiatives  Social media, smartphone health apps, PHRs  Personalized genomics  Crowdsourced studies  Next-generation participatory health  Conclusion Image credit: Natasha Vita-More, Primo Posthuman March 26, 2012 4 DIYgenomics.org
  • 5. Information transmission eras Analog Digital Life code ? 17,300 years ago 1455&1950-2000 2000-2100 2100+ Painting, scrolls Press, Transistor DNA ? March 26, 2012 5 DIYgenomics.org
  • 6. Artificial intelligence eras Enumeration Biomimicry Big data ? 1950s 1990s+ 2000s+ 2100+ Expert syst, CYC NLP, HTM, NCC Google, Watson ? March 26, 2012 6 DIYgenomics.org
  • 7. Big data: personal health informatics DNA: SNP mutations RNA expression profiling Health 2.0: Proteomics DNA: Structural Personal health variation informatics Epigenetics Microbiomics Metabolomics March 26, 2012 Academic papers re: integrated health data streams: Auffray C, et al. Looking back at genomic medicine in 2011. Genome Med. 2012 Jan 30;4(1):9. Chen R et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell. 2012 Mar 16;148(6):1293-307. 7 DIYgenomics.org
  • 8. Big data: collective intelligence computing Crowdsourcing Concierge research Consumer genomics Citizen science Health 2.0: Consumer blood tests Crowdsourced health computing DIYbio labs Continuous Ambient mental sampling performance Quantified self- optimization tracking March 26, 2012 8 DIYgenomics.org
  • 9. Rising worldwide health care costs March 26, 2012 Source: http://www.kff.org/insurance/snapshot/OECD042111.cfm 9 DIYgenomics.org
  • 10. Woeful state of global public health systems  Rising health care costs  Aging worldwide populations  Anticipated physician shortages  Cost per new drug: $1.5 billion Image credit: http://www.boomertownsquare.com New drug apps: 23 in 2011 vs. 45 in 1996 Biotechnology investment reticence1  Solution: big health data and crowdsourced computing March 26, 2012 1 Source: http://www.innovationnewsdaily.com/medical-innovation-pharmaceutical-drugs-2090 10 DIYgenomics.org
  • 11. Agenda  Introduction: context for participatory health  Community computing health initiatives  Social media, smartphone health apps, PHRs  Personalized genomics  Crowdsourced studies  Next-generation participatory health  Conclusion Image credit: Natasha Vita-More, Primo Posthuman March 26, 2012 11 DIYgenomics.org
  • 12. Participatory health definition  Health 2.0, Medicine 2.0, eHealth (2008)  “Use of a specific set of Web [2.0] tools (blogs, Podcasts, tagging, search, wikis, [health social networks], etc.) by actors in health care including doctors, patients, and scientists, using principles of…in order to personalize health care, collaborate, and promote health education” 1  Society for Participatory Medicine (2010)  “Participatory Medicine is a movement in which networked patients shift from being mere passengers to responsible drivers of their health, and in which providers encourage and value them as full partners”2 Image credit: http://ramialsindi.wordpress.com March 26, 2012 1 Source: http://en.wikipedia.org/wiki/Medicine_2.0#cite_note-jmir.org-3 Source: http://e-patients.net/archives/2010/04/a-patient-centric-definition-of-participatory-medicine.html 12 DIYgenomics.org 2
  • 13. Participatory health activities (Light) Level of Engagement (Heavy) Social Mobile PHRs Consumer Health social networks media health apps (personal genomics and crowd-sourced health health studies records) Image credit: Getty Images March 26, 2012 13 DIYgenomics.org
  • 14. Health 2.0 social media  Web 2.0 in the health context  Blogs, twitter, facebook, wikis, search, google+, video Image credit: http://www.siliconangle.com March 26, 2012 14 DIYgenomics.org
  • 15. Social media increases responsibility-taking  27% of US internet users track health data online1  41% of European physicians believe social media will play an increasingly important role in shaping patient management and treatment2 Image credit: http://www.americanwell.com Image credit: http://www.3gdoctor.com March 26, 2012 1 Source: http://www.pewinternet.org/Reports/2011/Social-Life-of-Health-Info.aspx 2 Source: http://www.worldofhealthit.org/sessionhandouts/documents/PS34-1-DeniseSilber.pdf 15 DIYgenomics.org
  • 16. Smartphone as personal doctor  Mobile is the platform Image credit: http://www.psfk.com  US: more cell phones (328 m) than people (315 m) 1  Worldwide smartphone users  One billion+ by 20132  81% physicians using smartphones 20123  Explosive growth in application (app) downloads  5 billion in 2010 versus 300 million in 20094  Health-related apps: 7,0004 Image credit: tehgaygeek.blogspot.com  Studies: thousands recruited in months2  Intimate continuous interaction platform  Phone loss noticed within 5 minutes vs. 1 hour for wallet loss  Kids chat with Siri as virtual friend 1 Kang C. Number of cell phones exceeds US population. Washington Post. October 11, 2011. March 26, 2012 2 Dufau S. Smart phone, smart science: how the use of smartphones can revolutionize research in cognitive science. PLoS One. 2011. 3Kiser K. 25 ways to use your smartphone. Physicians share their favorite uses and apps. Minn Med. 2011. 16 DIYgenomics.org 4 Boulos MN. How smartphones are changing the face of mobile and participatory healthcare. Biomed Eng Online. 2011.
  • 17. PHRs (personal health records)  Patient-administered medical records Image credit: http://mymedsphr.com  PHR use is growing  11% PHR use in 2011, +3% from 2008 (Deloitte) Image credit: http://www.mobihealthnews.com  Aetna 1.5 million users (Sep 2011)  Improved health outcomes  PHR users 68% better at following up on recommended care  Empowers health self-management, more active role March 26, 2012 17 DIYgenomics.org
  • 18. Health social networks and collaboration Health social Health networks collaboration (global & local) communities Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer March 26, 2012 personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525. 18 DIYgenomics.org
  • 19. Agenda  Introduction: context for participatory health  Participant-driven health initiatives  Social media, smartphone health apps, PHRs  Personalized genomics  Crowdsourced studies  Next-generation participatory health  Conclusion Image credit: Natasha Vita-More, Primo Posthuman March 26, 2012 19 DIYgenomics.org
  • 20. Personalized genomics definition  Using genetic sequencing profiles of individuals in health and wellness decisions  Consumer cost = $99  International availability, 100,000+ subscribers Allele, variant, SNP (single nucleotide polymorphism); “typo” in red; normal in green Example: rs1801133 AG AA, AG, GG Example: rs7412 CT CC, CT, TT Image credit: http://123RF.com March 26, 2012 DIYgenomics.org
  • 21. Numerous useful applications of genomics 1. Established  Ancestry  Carrier status  Identity (paternity, forensics) 2. Maturing  Health condition risk1  Pharmaceutical response2 3. Novel  Athletic performance capability  OTC product response  Environment/toxin processing Image credit: http://bit.ly/fovpJc 4. Farther future  Predictive wellness profiling: aging, cancer, immune response March 26, 2012 1 Source: Swan M. Multigenic condition risk assessment in direct-to-consumer genomic services. Genet Med. 2010 May;12(5):279-88. 2 Source: http://www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm 21 DIYgenomics.org
  • 22. 23andMe colorectal cancer marker March 26, 2012 Source: http://www.23andme.com 22 DIYgenomics.org
  • 23. Pathway Genomics drug response March 26, 2012 Source: http://www.pathway.com 23 DIYgenomics.org
  • 24. Consumer genomics comparison scorecard  Which service to buy? Consumer # Cost Report Data Visible Updates genomic service Cond- access research itions quality1 49 $2,000 +  +  214 $99    + 40 $999 *   71 $299 *  15 public study n/a public study *Physician prescription required March 26, 2012 1 Conditions, genes, variants, underlying research references, and methodology white paper(s) available on public website DIYgenomics.org
  • 25. Open-source mobile apps (5,000+ downloads)  Health condition, drug response, athletic performance capability T T T  Private 23andMe data upload T T T T C C  Android “genomics or DIYgenomics”  iPhone March 26, 2012 Android development: Michael Kolb, Lawrence S. Wong, Laura Klemme, Melanie Swan iOS development: Ted Odet, Greg Smith, Laura Klemme, Melanie Swan 25 DIYgenomics.org
  • 26. Example: what to do with your data  Check if you have the risk allele for the BDNF gene  Determine related SNP/rsID#, rs6265 (neuroplasticity)  Search genomic data for rs6265 genotype (e.g., CC)  Determine the risk allele (which letter?) (e.g.; G1)  Current genomics search resources  PharmGKB, dbSNP, GWAS catalog, SNPedia March 26, 2012 Source: http://www.wired.com/wiredscience/2009/10/genetically-bad-driving 1 Ribeiro, L. et. Al., The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans. Cellular, DIYgenomics.org Molecular and Developmental Neuroscience. May 8, 2007. 26
  • 27. Finding your BDNF data, variant rs6265  Consumer genomic services genotype 1 million variants but only map a few up to the annotation browser March 26, 2012 DIYgenomics.org 27
  • 28. Athletic performance March 26, 2012 Source: http://www.genome.duke.edu/education/seminars/journal-club/documents/Assael_2009.pdff, Swan, M. Applied genomics: personalized interpretation of athletic performance GWAS. 2012. In press. 28 DIYgenomics.org
  • 29. Genome politics and regulation  Our world is not Gattaca  Personal genomics has destigmatized health issues  Issues: human cloning, sex selection, genetic privacy, non-discrimination  UN Convention on Human Rights and Biomedicine 1997 (Ch IV Human Genome) Image credit: http://www.sonypictures.com  U.S. Genetic Information Nondiscrimination Act (GINA) 2008  Biocitizenry, health as a human right Image credit: http://sciencephoto.com March 26, 2012 29 DIYgenomics.org
  • 30. Agenda  Introduction: context for participatory health  Participant-driven health initiatives  Social media, smartphone health apps, PHRs  Personalized genomics  Crowdsourced studies  Next-generation participatory health  Conclusion Image credit: Natasha Vita-More, Primo Posthuman March 26, 2012 30 DIYgenomics.org
  • 31. DIYgenomics  Goal: preventive medicine Image credit: stemcellumbilicalcordblood.com  Realize preventive medicine by establishing baseline markers of wellness and pre-clinical interventions  Generalized hypothesis  One or more polymorphisms may result in out-of-bounds baseline levels of phenotypic markers. These levels may be improved through personalized intervention. Genotype + Phenotype + Intervention = Outcome March 26, 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. 31 DIYgenomics.org
  • 32. DIYgenomics participant-organized studies  7 studies in open enrollment (vitamin deficiency, aging, and mental performance); 5 in design (oncology, calcinosis) March 26, 2012 Source: Swan, M., Crowdsourced health research studies. J Med Internet Res 2012, Mar;14(2):e46 32 DIYgenomics.org
  • 33. Mar 2012: 300+ community members, Genomera 20 studies with 10-65 enrollees Site access through ‘eBay of health studies’ www.DIYgenomics.org March 26, 2012 33 DIYgenomics.org
  • 34. Image credit: http://bit.ly/g2DIcW DIYgenomics memory study Goal: 100 member cohort •Genotype: COMT, DRD2, SLC6A3 (~5 SNPs) (neurotransmitter modulation) •Phenotype: memory test (20-25 minutes) •Background questionnaire March 26, 2012 Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy 34 DIYgenomics.org
  • 35. DIYgenomics Retin-A skin cream study  Genetic profiling can predict Retin-A side-effects? March 26, 2012 Source: http://genomera.com/studies/retin-a-wonder-cream-for-acne-and-wrinkles-is-there-a-genomic-link 35 DIYgenomics.org
  • 36. DIYgenomics TA-65 aging study  Telomerase genes, telomere length, and intervention  Telomere-lengthening and immune system benefits (Harley CB et al, Rejuvenation Res, 2011, de Jesus BB et al, Aging Cell, 2011) March 26, 2012 Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy 36 DIYgenomics.org
  • 37. Crowdsourced health studies1 DIYgenomics MTHFR Vitamin B deficiency study2  Definition: 1. Genotype profiles  Research studies that derive participants and data from a large group of people through an open call  Researcher-organized 2. Homocysteine levels  PatientsLikeMe umol/l  23andMe  Participant-organized  Quantified Self  Genomera Blood Test #  DIYgenomics Baseline Centrum LMF C + LMF Baseline 1 Source: Swan, M., Crowdsourced health research studies. J Med Internet Res 2012, Mar;14(2):e46 March 26, 2012 2 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. 37 DIYgenomics.org Results are not statistically significant and intended as a pilot demonstration
  • 38. Genotype + Phenotype + Intervention = Outcome Standard study protocol – methodology  Collect relevant genomic SNP data  Literature search for polymorphisms associated with condition  Measure relevant phenotypes before and after (typical study duration = 1 month)  Quantitative measures: blood test, self-tracking device data  Qualitative measures: user surveys  Intervention (n=100 to 1000)  Group A: nothing (control)  Group B: intervention 1 (experimental group 1)  Group C: intervention 2 (experimental group 2) Image credit: http://sciencemag.org  Advisors: confirm protocol design with two independent academics or professionals in the field March 26, 2012 Source: DIYgenomics 38 DIYgenomics.org
  • 39. Agenda  Introduction: context for participatory health  Participant-driven health initiatives  Social media, smartphone health apps, PHRs  Personalized genomics  Crowdsourced studies  Next-generation participatory health  Conclusion Image credit: Natasha Vita-More, Primo Posthuman March 26, 2012 39 DIYgenomics.org
  • 40. Role of participatory health: future medicine 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 March 26, 2012 Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525. 40 DIYgenomics.org
  • 41. Health self-management A new model of health and health care March 26, 2012 Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525, Figure 1. 41 DIYgenomics.org
  • 42. Ontological shift Image credit: http://efx3.com Old thinking: My health is the responsibility of my physician New thinking: My health is my responsibility … and I have the tools to make managing it easy March 26, 2012 42 DIYgenomics.org
  • 43. Biotechnicity and computational philosophy Metaphysical shift: new ways of being •Meaning of health and health outcomes •Sense of self and group identity, biocitizenry Image credit: http://stemcellresources.org Epistemic advance: new knowledge generation •Content: New data streams, larger data sets, more granular data, higher order magnitude science •Process: New algorithms and new models Computational tools of health-related philosophical discovery •Hardware and software devices and algorithms: quantitative health data streams, health- related smartphone applications, personal electronic health records, quantified self- tracking devices •Crowdsourced human computing networks: crowdsourced disease prediction, health social networks, quantified self n=1 health self-experimentation, crowdsourced health research studies, DIYbio labs March 26, 2012 Source: Swan, M. Biotechnicity 2.0: Computation-enabled Philosophical Advance in the Epistemology of Human Biology and the Ontology of Bioidentity. 2012. Submitted. 43 DIYgenomics.org
  • 44. Agenda  Introduction: context for participatory health  Participant-driven health initiatives  Social media, smartphone health apps, PHRs  Personalized genomics  Crowdsourced studies  Next-generation participatory health  Conclusion Image credit: Natasha Vita-More, Primo Posthuman March 26, 2012 44 DIYgenomics.org
  • 45. Top 10 collective intelligence health trends Automated self- tracking devices Image credit: Personal Microbiomics http://www.dreamstime.com health records Social media Crowdsourced health studies Blood tests 2.0 Smartphone health apps Health advisor Health social Whole human Personalized genome networks genomics sequencing 2010 2015 2020+ March 26, 2012 45 DIYgenomics.org
  • 46. Image credit: http://www.sldesigns.com But wait… Drawbacks to participatory health • Health hobbyist niche, not mainstream • Perceptions of health: negative, deterministic • Anemic participation in health collaboration communities • Financial incentives required for self health monitoring • Unclear how to incorporate into public health systems March 26, 2012 46 DIYgenomics.org
  • 47. Summary: community health computing  The right solution at the right time  Embedded in the public health ecosystem  Biotechnicity = the transistor of the 21st century Image credit: http://sciencephoto.com  Advances in participatory health computing Social media Mobile PHRs Consumer Health social networks and health apps (personal genomics crowd-sourced health health studies records)  Participatory health is integral to realizing the personalized, preventive medicine of the future March 26, 2012 47 DIYgenomics.org
  • 48. 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