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  • I find it interesting that you mentioned care rationing on slide 9. I wrote a slideshare on health care rationing: http://www.cobrahealth.com/Obamacare-rationing.html. Not sure of the $99 cost you mention on slide #25?
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    Participant driven-health Participant driven-health Presentation Transcript

    • Future of Health: Overview of Participant-driven Research and Medicine Melanie Swan Founder DIYgenomics +1-650-681-9482 @DIYgenomics www.DIYgenomics.org [email_address] 37th health seminar "Patient-driven research and medicine" November 10, 2011, Lausanne Switzerland 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:
      Source: http://melanieswan.com/publications.htm
        • Swan M. Meeting Report: American Aging Association 40(th) Annual Meeting, Raleigh, North Carolina, June 3-6, 2011. Rejuvenation Res . 2011, Aug;14(4):449-55.
        • 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. Translational antiaging research. Rejuvenation Res. 2010 , Feb;13(1):115-7.
        • Swan, M. Engineering Life into Technology: the Application of Complexity Theory to a Potential Phase Transition of Intelligence. Symmetry 2010 , 2, 150:183.
        • 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.
    • Top 10 list of participative health initiatives Personal health records Microbiomics Whole human genome sequencing Health social networks Personalized genomics Crowdsourced health studies Blood tests 2.0 Automated self-tracking devices Health advisor Social media 2020+ 2010 2015 Image credit: http://www.dreamstime.com Smartphone health apps
    • Agenda
      • Introduction: context for participative health
      • Participant-driven health initiatives
        • Social media, smartphone health apps, PHRs
        • Personalized genomics
        • Crowdsourced studies
      • Next-generation participative health
      • Future medicine conclusion
      Image credit: Natasha Vita-More, Primo Posthuman
    • Information transmission eras Painting, scrolls Press, Transistor DNA Analog Digital Life code ? ? 2000-2100 1455&1950-2000 17,300 years ago 2100+
    • Biology is an information technology DNA sequencing: 10x/yr improvement Image credit: http://pubs.acs.org/cen/_img/87/i50/8750cover2_law.gif I hate you 010010010010000001101 0 000110 000 1011101000110010100100000011110010110111101110101 I love you 01001001001000000110110001101111011101100110010100100000011110010110111101110101
    • Biology is the information technology Image credit: J. Craig Venter Institute Image credit: Anthony Atala lab Image credit: Thomas Matthiesen Artificial cell booted to life Algal biofuel Image credit: http://www.rexresearch.com Whole organ decellularization and recellularization (heart) Organ regeneration (urethra) DNA nanotechnology latch box for drug delivery Image credit: Aarhus University
    • Rising worldwide health care costs Source: http://www.kff.org/insurance/snapshot/OECD042111.cfm
    • Woeful state of global public health systems
      • Rising health care costs
      • Aging populations worldwide
      • Anticipated physician shortages
      • Cost per new drug: $1.5 billion
        • New drug apps: 23 in 2011 vs. 45 in 1996
        • Biotechnology investment reticence 1
      • Upcoming period of care rationing?
      Image credit: http://www.boomertownsquare.com 1 Source: http://www.innovationnewsdaily.com/medical-innovation-pharmaceutical-drugs-2090
    • Citizen science definition Institutional science research Citizen science health and biology Citizen science: 200+ organizations 1 1 http://scienceforcitizens.net/finder
      • Performing scientific investigation without professional training in the field
      Image credit: http://www.southernfriedscience.com
    • Citizen science health – why now?
      • Tools
        • Plummeting cost of genome sequencing
        • Availability of consumer blood tests
        • Online bioinformatics tools
      • Education and support
        • Local DIYbio labs, online forums
      Image credits: http://www.biocurious.org Image credit: http://diybionyc.blogspot.com
    • Agenda
      • Introduction: context for participative health
      • Participant-driven health initiatives
          • Social media, smartphone health apps, PHRs
        • Personalized genomics
        • Crowdsourced studies
      • Next-generation participative health
      • Future medicine conclusion
      Image credit: Natasha Vita-More, Primo Posthuman
    • Participative health definition
      • Health 2.0, Medicine 2.0, eHealth, participative health (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
      1 Source: http://en.wikipedia.org/wiki/Medicine_2.0#cite_note-jmir.org-3 2 Source: http://e-patients.net/archives/2010/04/a-patient-centric-definition-of-participatory-medicine.html
    • Participative health activities Image credit: Getty Images (Light) Level of Engagement (Heavy) Social media Mobile health apps PHRs (personal health records) Consumer genomics Health social networks and crowd-sourced health studies
      • Web 2.0 in the health context
      • Blogs, twitter, facebook, wikis, search, google+, video
      Health 2.0 social media Image credit: http://www.siliconangle.com
    • Social media increases health literacy
      • Consumer response to social media
        • 27% of US internet users track health data online, 18% seek others with similar health concerns 1
        • 67% of Europeans trust social media information 2
      • European physician response to social media
        • 30% physicians are members of social networks 2
        • 2/3+ interested in joining social networks 2
        • 41% believe social media will play an increasingly important role in shaping their patient management and treatment 3
      Image credit: http://ramialsindi.wordpress.com 1 Source: http://www.pewinternet.org/Reports/2011/Social-Life-of-Health-Info.aspx 2 Source: http://www.mmm-online.com/europe-edges-us-in-social-media-for-health-info-says-study/article/166461/ 3 Source: http://www.worldofhealthit.org/sessionhandouts/documents/PS34-1-DeniseSilber.pdf
    • Social media health tech: Physician consultation and review Image credit: http://www.americanwell.com Image credit: http://www.3gdoctor.com Image credit: http://www.webicina.com
    • Smartphone as personal doctor
      • Mobile is the platform
        • US: more cell phones (328 m) than people (315 m) 1
      • Smartphone users
        • One billion+ by 2013 2
        • 81% physicians using smartphones 2012 3
      • Explosive growth in application (app) downloads
        • 5 billion in 2010 versus 300 million in 2009 4
      • Health-related apps: 7,000 4
      • Intimate continuous interaction platform
        • Phone loss noticed within 5 minutes vs. 1 hour for wallet loss
      1 Kang C. Number of cell phones exceeds US population. Washington Post. October 11, 2011. 2 Dufau S. Smart phone, smart science: how the use of smartphones can revolutionize research in cognitive science. PLoS One. 2011. 3 Kiser K. 25 ways to use your smartphone. Physicians share their favorite uses and apps. Minn Med. 2011. 4 Boulos MN. How smartphones are changing the face of mobile and participatory healthcare. Biomed Eng Online. 2011. Image credit: http://www.psfk.com
    • Smartphone health apps
      • Consumer uses
        • Education, information, and self-tracking
      • Physician uses
        • Access patient information, contact colleagues, information look-up (billing codes, drug formularies, reference material)
      • Health app focal areas
        • Nutrition, exercise, diabetes, obesity
        • Mental health and behavioral change
      • Scaled up research projects
        • Thousands recruited in months 1
      Image credit: http://www.mobihealthnews.com 1 Dufau S. Smart phone, smart science: how the use of smartphones can revolutionize research in cognitive science. PLoS One. 2011. Image credit: tehgaygeek.blogspot.com
    • PHRs (personal health records)
      • Patient-administered medical records
        • Traditional: blood type, family history, Rx data
        • Health 2.0: genome profiles, self-tracking data
      • Link with traditional medicine
        • Cost savings, real-time information access, error reduction, improved communication for individuals & health systems
      • PHR use is growing
        • 11% PHR use in 2011, +3% from 2008 (Deloitte)
        • 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
      Image credit: http://mymedsphr.com
    • Health social networks
      • Definition
        • Online health interest communities where members may…
        • … share demographic and condition-related information
        • … track treatments, symptoms, and outcomes
        • … find other similar patients for condition benchmarking
        • … join collaborative health studies
      • Physician-focused
        • Sermo (global), BlogFMC (France+), Good Doctor’s Forum (China), DoctorsNet (UK)
      • Consumer/patient-focused
      Image credit: http://glennamoe.com
    • Health social networks and collaboration 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. Health collaboration communities Health social networks (global & local)
    • Global perspective: culture matters
      • US: early adopter
      • UK: public health initiatives
      • Europe
        • Regulation, DIY culture, informed, initiative-taking
        • France (early-adopter, self-responsibility taking) 1 , Germany (+environment, light footprint, institutional mistrust), Denmark (self-tinkering, self-informed), Italy/Spain (institutional context)
      • Middle East / South Korea / Singapore
        • Rapid early adopters, financial resources, less-democratic political regimes
      • Latin America / Asia / Africa (BRIC)
        • Straight to health 2.0/genomic medicine; regional leaders in key industries (e.g.; genomic sequencing and interpretation)
      1 French National Reference Center for Health Care and Autonomy Image credit: http://www.worldofstock.com
    • Agenda
      • Introduction: context for participative health
      • Participant-driven health initiatives
        • Social media, smartphone health apps, PHRs
        • Personalized genomics
        • Crowdsourced studies
      • Next-generation participative health
      • Future medicine conclusion
      Image credit: Natasha Vita-More, Primo Posthuman
    • Personalized genomics definition
      • Using genetic sequencing profiles of individuals in health and wellness decisions
      • Consumer cost = $99
        • International availability, 100,000+ subscribers
      Image credit: http://123RF.com Example: rs1801133 A G AA , A G , GG Allele, variant, SNP (single nucleotide polymorphism); “typo” in red; normal in green Example: rs7412 C T CC , C T , TT
    • Numerous useful applications of genomics
      • Established
        • Ancestry
        • Carrier status
        • Identity (paternity, forensics)
      • Maturing
        • Health condition risk 1
        • Pharmaceutical response 2
      • Novel
        • Athletic performance capability
        • OTC product response
        • Environment/toxin processing
      • Farther future
        • Predictive wellness profiling: aging, cancer, immune response
      Image credit: http://bit.ly/fovpJc 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
    • Direct-to-consumer genomics: 23andMe Source: http://www.23andme.com; open source genomes http://www.snpedia.com/index.php/Genomes 1,000,000 SNPs scanned and mapped to 214 conditions
    • 23andMe colorectal cancer marker Source: http://www.23andme.com
    • 23andMe colorectal cancer marker Source: http://www.23andme.com
    • Pathway Genomics drug response Source: http://www.pathway.com
    • Consumer genomics comparison scorecard
      • Which service to buy?
      *Physician prescription required 1 Conditions, genes, variants, underlying research references, and methodology white paper(s) available on public website Consumer genomic service # Cond-itions Cost Report Data access Visible research quality 1 Updates deCODEme 49 $2,000  +   +  23andme 214 $99     + Navigenics* 40 $999   Pathway Genomics* 71 $299  Coriell (10,000 partic. 7/11) 15 public study PGP (Personal Genome Project) n/a public study
    • Open-source mobile apps (5,000+ downloads)
      • Health condition, drug response, athletic performance capability
      • Private 23andMe data upload
      • Android
      • iPhone
      Android development: Michael Kolb, Lawrence S. Wong, Laura Klemme, Melanie Swan iOS development: Ted Odet, Greg Smith, Laura Klemme, Melanie Swan “ genomics” 4,000+ downloads “ genomics” 1,000+ downloads T T T T T T T C C
      • Markets:
        • Research: one-off genotyping
        • Classroom education
      • How it works
        • Select SNPs of interest
        • Order kit ($20/kit (minimum 4))
        • Go through DNA collection, extraction, PCR amplification steps
        • Send results to lab for sequencing
        • Check online for results
      DIY genotyping kits: Cofactor Bio 1 Source: http://cofactorbio.com/education
    • 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.; G 1 )
      • Current genomics search resources
        • PharmGKB, dbSNP, GWAS catalog, SNPedia
      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, Molecular and Developmental Neuroscience. May 8, 2007.
    • Finding your BDNF data, variant rs6265
      • Consumer genomic services genotype 1 million variants but only map a few up to the annotation browser
    • Athletic performance Source: http://www.genome.duke.edu/education/seminars/journal-club/documents/Assael_2009.pdf
    • Athletic performance Image credit: http://www.istockphoto.com V = number of variants; % = ratio of favorable polymorphisms to total alleles for a sample individual; S = number of studies Source: Swan, M. Applied genomics: personalized interpretation of athletic performance GWAS. 2011 . Submitted. Category Genes V % S Endurance, power, and energy Endurance ACE, ACTN3, ADRB2/ ADRB3, BDKRB2, COL5A1, GNB3 7 50 22 Power ACE, ACTN3, AGT 3 50 8 Energy HIF1A, PPARGC1A 3 25 9 Musculature, and heart and lung capacity Muscle fatigue and repair HNF4A, NAT2 and IL-1B 5 40 4 Strength HFE, HIF1A, IGF1, MSTN GDF8 5 17 15 Heart and lung capacity CREB1, KIF5B, NOS3, NPY and ADRB1, APOE, NRF1 9 36 11 Metabolism, recovery, and other   Metabolism AMPD1, APOA1, PPARA, PPARD 5 50 9 Recovery CKMM/CKM, IL6 2 50 5 Ligament and tendon strength  Ligament strength COL1A1, COL5A1, CILP 3 50 4 Tendon strength COL1A1, COL5A1, GDF5, MMP3 7 63 5
    • Lung cancer risk and drug response
      • Risk and drug response for specific cancers
      Source: Swan, M. Review of cancer risk prediction in direct-to-consumer genomic services. (poster) Canary Foundation Early Detection Symposium, May 25-27, 2010, Stanford University, Stanford CA. Image credit: http://www.xianet.net
    • Predictive wellness profiling: cancer
      • Proto-oncogene/tumor suppressor gene polymorphisms
      Image credit: http://utmb.edu TP53: cell cycle arrest, PTEN: cell cycle progression modulator, MYC: cell cycle regulator Source: DIYgenomics
    • Wellness profiling: immune system
      • Immune system genomic wellness profiling
      • Immune response: T-cell activation
        • CTLA4, CD226, CD86, IL3
      Image credit: http://www.iayork.com CTLA4: T-cell inhibition; IL3: growth-promoting cytokine Source: DIYgenomics
    • Product and environment genomic profiling
      • OTC product response, efficacy, and side effects
        • Skin (anti-wrinkle, 1 antioxidant, anti-itching creams, personalized mosquito repellent)
        • Hair (hair loss treatments)
        • Esophagus (reflux, bile acid response treatments)
        • Teeth (periodontitis remedies)
        • Sleep (insomnia treatments)
      • Environmental exposure: toxin processing
        • Benzene
        • Quinone oxidoreductase
        • PAHs metabolism
        • Arylarene metabolism
        • Mercury and lead exposure
        • Liver and kidney health (general)
      Source: DIYgenomics 1 P&G, Kaczvinsky JR et al, Skin Therapy Lett, 2011 Image credit: http://sciencephoto.com
    • Microbiomics
      • 10x human cells (2 kg, +4°C), 150x genetic repertoire
      • 15-20 body sites
        • Skin, eyes, mouth, nose, lungs, GI tract, genitals
      • Activities: ferment food, produce vitamins, prevent pathogen growth
      • Influences disease, drug response, nutrient pathways
      • Compositional and functional analysis
      Image credit: Grice EA et al, Nat Rev Microbiol, 2011, Figure 3 Skin microbiome ecosystem distribution
    • GI microbiome project: my.microbes.eu
      • EMBL Heidelberg, 1451 €
      • Enterotype affiliation 1
        • Bacteroides (biotin synthesis)
        • Prevotella (thiamine synthesis)
        • Ruminococcus (folate synthesis)
      • Novel promicrobial and antimicrobial treatments
        • Stimulatory
        • Inhibitory
      Image credits: my.microbes.eu Enterotype affiliation analysis 1 Source: Arumugam M et al. Enterotypes of the human gut microbiome. Nature. 2011 May 12;473(7346):174-80. Science for everyone
    • Genome politics and regulation
        • Our world is not Gattaca
        • Issues: human cloning, sex selection, genetic privacy, non-discrimination
          • UN Convention on Human Rights and Biomedicine 1997 (Ch IV Human Genome)
          • U.S. Genetic Information Nondiscrimination Act (GINA) 2008
      • Biocitizenry, health as a basic human right
      Image credit: http://www.sonypictures.com Image credit: http://sciencephoto.com
    • Direct-to-consumer genomics trade-offs Drawbacks Advantages
      • Unregulated
      • Usefulness of information
        • Unclear correlation
        • Polygenic disease
        • Lack of therapies
      • Results interpretation
        • Genetic counseling
        • False positives, false negatives
      • Insurance and employment discrimination
      • Fact-based information
      • Improved consumer experience
        • Consumer-owned data
        • Self-empowerment
      • Low-cost availability
      • Impact on healthcare
        • Increased health literacy
        • Consumer more active, better outcomes
        • Destigmatization
    • Agenda
      • Introduction: context for participative health
      • Participant-driven health initiatives
        • Social media, smartphone health apps, PHRs
        • Personalized genomics
        • Crowdsourced studies
      • Next-generation participative health
      • Future medicine conclusion
      Image credit: Natasha Vita-More, Primo Posthuman
    • Crowdsourced health studies
      • Definition:
        • Research studies that derive participants and data from a large group of people through an open call
      • Researcher-organized
        • PatientsLikeMe
        • 23andMe
      • Participant-organized
        • Quantified Self
        • Genomera
        • DIYgenomics
      2. Homocysteine levels DIYgenomics MTHFR Vitamin B deficiency study 1 1. Genotype profiles Baseline LMF Baseline Centrum umol/l C + LMF 1 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. Results are not statistically significant and intended as a pilot demonstration Blood Test #
    • PatientsLikeMe studies
      • Patient-organized ALS lithium study
        • 2008: 348 initial patients, 149 (2 mos), 78 (12 mos)
        • No effect found: patient self-experimentation, observational study (149 cases/447 controls) & traditional randomized studies
      • ALS (amyotrophic lateral sclerosis)
        • Handedness connection between limb physical activity and disease onset in arms but not legs
        • Additional items for condition sensitivity measurement scale (motor skills, emotion, mobility)
        • Low participation in ALS studies due to lack of invitation, enrollment cost concerns & confusion
        • Comparative research: pathological gambling tendencies (ALS 3%, Parkinson’s disease 13%)
      Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
    • PatientsLikeMe: drug-related studies
      • Off-label use for amitriptyline (depression) and modafinil (wakefullness-promoting; narcolepsy and sleep apnea)
        • 40% ALS amitriptyline users unwanted excess saliva reduced
        • 36% MS and PD modafinil users reported decreased fatigue
      •   Quantifying medication adherence
        • 36% participation rate from MS community
        • 16-51% (by treatment) missed one dose in the last 28 days
      • Patient sentiment per PLM forum discussion
        • Positive outlook for MS drug Tysabri (natalizumab) despite being linked to 3 cases of progressive multifocal leukoencephalopathy (PML) in 2008
      Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted. Image credit: http://wdfyfe.wordpress.com
    • PatientsLikeMe: user experience
      • Health social network participation (19% response)
        • Positive reaction, comfort in sharing health data
        • Uses: learn about symptoms, understand treatments and side effects, make decisions about treatments
        • Peer benefits of condition benchmarking relative to others
      • Next steps for improving health social networks
        • Interpreting unstructured information, managing churning community populations, self-reported data challenges
        • Examine health social network participation and link to real-world outcomes
        • Identify and create new tools to further empower health self-management, for example to facilitate patient-organized studies
      Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
    • 23andMe genome association studies
      • One of largest Parkinson’s disease (3,426 cases/29,624 controls) studies
        • Replication of 20 previous genetic associations
        • Discover of two new ones (rs6812193 and rs11868035)
      • 20,000 responses on 50 medical phenotypes
        • 180 previously reported associations for type 2 diabetes, prostate cancer, cholesterol levels, and multiple sclerosis; only 75% of expected associations
      • Non-disease condition (trait) associations
        • Replication: hair color, eye color, and freckling
        • Novel associations: morphology, freckling, smell detection, and sneeze reflex
      Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
    • Quantified self
      • Goal: personalized knowledge through quantified self-tracking
      • Format: monthly ‘show n tell’ meetups
      • Outcome: optimality and improvement
        • Example: personalized interventions for depression, low energy, sleep quality
      Image credit: http://www.nationalpost.com Image credit: Quantified Self Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
    • Quantified self study examples
      • Data visualization: one year of food consumption 1
      • Butter Mind study 2
        • Improved arithmetic speed for 45 randomized individuals eating 2 ounces (56.7 grams) of butter per day
      • Health and mental performance 3
        • Reduced early awakening by avoiding breakfast and spending more time during the day standing
        • Improved mood by seeing faces
        • Lost weight by drinking sugar water
      Images credit: Lauren Manning Image credit: Quantified Self 1 Source: http://flowingdata.com/2011/06/29/a-year-of-food-consumption-visualized 2 Source: http://quantifiedself.com/2011/01/results-of-the-buttermind-experiment 3 Source: Roberts S. The unreasonable effectiveness of my self-experimentation. Med Hypotheses. 2010 Dec;75(6):482-9.
    • Genomera ‘eBay of health studies’ Nov 2011: 300+ community members, 20 studies with 10-65 enrollees Site access through www.DIYgenomics.org
    • DIYgenomics
      • Goal: preventive medicine
        • 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.
        • 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.
      Genotype Phenotype Intervention Outcome + + =
    • DIYgenomics participant-organized studies
      • 6 studies in open enrollment (vitamin deficiency, aging, and mental performance); 5 in design (oncology, calcinosis)
      Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
    • DIYgenomics memory study Image credit: http://bit.ly/g2DIcW Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
      • Goal: 100 member cohort
      • Genotype: COMT, DRD2, SLC6A3 (~5 SNPs) (neurotransmitter modulation)
      • Phenotype: memory test (20-25 minutes)
      • Background questionnaire
    • DIYgenomics Retin-A skin cream study
      • Genetic profiling can predict Retin-A side-effects?
      Source: http://genomera.com/studies/retin-a-wonder-cream-for-acne-and-wrinkles-is-there-a-genomic-link
    • 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)
      Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
    • Agenda
      • Introduction: context for participative health
      • Participant-driven health initiatives
        • Social media, smartphone health apps, PHRs
        • Personalized genomics
        • Crowdsourced studies
      • Next-generation participative health
      • Future medicine conclusion
      Image credit: Natasha Vita-More, Primo Posthuman
    • Next-generation participative health
      • Engaging collaborators
        • Know the market
        • Strategic marketing and recruitment
      • Professionalizing participative health
        • CRO 2.0: innovating the research model
        • Validation of crowdsourced studies: scientific, philosophical, etc.
      • What else is needed?
        • Blood tests 2.0
        • Boilerplate tools for collaborative health
      Image credit: http://www.digitalculture-ed.net
    • Engaging personal health collaborators
      • Construct relevant value propositions to diverse target markets
      • Make participation fun and easy
      • Frame with nomenclature
        • Enhancement, optimization, improvement
      Image credit: http://www.liberatemedia.com (Light) Participative Health Activities by Level of Engagement (Heavy) Social media Mobile health apps PHRs (personal health records) Consumer genomics Health social networks and crowd-sourced health studies
    • Three participative health user groups
      • Needs: obtain information and take action
      • The health decision maker
        • 1 55 year old women are the biggest health decision makers in the US
        • Education, clearly digestible information, service comparison, recommendations
        • Layperson, health
        • decision maker 1
        • Rapid information access, research references, custom configurability, personal data upload, search
        • Health optimizer
        • Health professional
        • Accessible technical information that can be verified and turned into actions
        • Image credits: www.ehow.com, www.DIYgenomics.org, ergonomic-office-supplies.com
    • Professionalizing participative health: innovating the research model Institutional PI (principal investigator) Traditional Research Model Patient-organized Research Model Research subjects Citizen scientists Investigators = Participants Institutional Review Board (IRB) IRBs, FAQs, Citizen ethicists Grant funding Journal publication Self publishing Patient advocacy groups Research foundations Social VC Crowd-sourcing
    • Professionalizing participative health: the CRO 1 2.0 ecosystem 1 CRO – contract research organization (outsourced operator of clinical trials and health studies) Source: Swan, M. Professionalizing citizen science health studies: the emergence of a new form of contract research organization. 2011. Submitted.
    • Professionalizing participative health: Philosophical validation
      • Towards an epistemology of citizen science
        • Provide a structure and context for participant-derived health knowledge
      • Q1: Are new kinds of knowledge are being formed through group collaborations such as wikipedia and health social networks?
      • Q2: How to characterize the knowledge generated by traditional medicine, self-experimentation, and health collaboration communities?
      Image credit: http://inkingrey.com
    • Ontological shift
      • 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
      Image credit: http://efx3.com
    • What else is needed? Blood Tests 2.0
      • Low-cost home-administered self-read finger-stick blood, urine, saliva tests:
        • Traditional blood tests (Homocysteine, Vitamin B-12, Folate, Vitamin D, Creatinine, eGFR, Cortisol, Calcium, Iron)
        • Hormones (Estrogen, Progesterone, Testosterone, Estradiol)
        • Immune system: CD4, CD8/CD28 ratio, IL-1, IL-6
        • Chemical / h eavy metal burden: mercury, cadmium, lead, tin
      OrSense continuous non-invasive glucose monitoring Cholestech LDX home cholesterol test ZRT Labs dried blood spot tests Source: http://futurememes.blogspot.com/2011/10/blood-tests-20-advances-with-dried.html
    • Open-source health collaboration tools
      • Boilerplate tools for study design and operation:
      • Study design template
        • http://www.diygenomics.org/files/DIYgenomics-study-design-template-blank.doc
      • Sample informed consent form
        • http://www.diygenomics.org/files/informed_consent.doc
      • Study budget template http://www.diygenomics.org/files/budget.xls
      • Recruitment and marketing
        • Study flyers http://www.diygenomics.org/files/multistudy_flyer.doc, http://www.diygenomics.org/files/TA65_flyer.doc, http://www.diygenomics.org/files/MTHFR_flyer.doc
        • Conference poster http://www.diygenomics.org/files/DIYgenomics_poster.ppt
        • Participant recruiting plan http://blog.genomera.com/how-to-recruit-for-your-citizen-science-study
      Slides: http://slideshare.net/LaBlogga
    • Study design template: Vitamin B deficiency Source: http://diygenomics.pbworks.com http://diygenomics.pbworks.com/w/file/36469280/DIYgenomics+study+design+template+blank.doc Cyanocobalamin Image credit: http://wikimedia.org
    • Agenda
      • Introduction: context for participative health
      • Participant-driven health initiatives
        • Social media, smartphone health apps, PHRs
        • Personalized genomics
        • Crowdsourced studies
      • Next-generation participative health
      • Future medicine conclusion
      Image credit: Natasha Vita-More, Primo Posthuman
    • Role of participative health: future medicine Individual 2. Peer collaboration and health advisors Health social networks, crowdsourced studies, health advisors, wellness coaches, preventive care plans, boutique physicians, genetics coaches, aestheticians, medical tourism 3. Public health system Deep expertise of traditional health system for disease and trauma treatment 1. Continuous health information climate Automated digital health monitoring, self-tracking devices, and mobile apps providing personalized recommendations 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.
    • Health self-management 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.
        • A new model of health and health care
    • Top 10 list of participative health initiatives Personal health records Microbiomics Whole human genome sequencing Health social networks Personalized genomics Crowdsourced health studies Blood tests 2.0 Automated self-tracking devices Health advisor Social media 2020+ 2010 2015 Image credit: http://www.dreamstime.com Smartphone health apps
    • But wait… Image credit: http://www.sldesigns.com Drawbacks of participative 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
    • Participative health summary
      • The right solution at the right time
        • Embedded in the public health ecosystem
      • Biology: infotech transistor of the 21 st century
      • Advances in participant-driven research and medicine
      • Participative health is integral to realizing the personalized, preventive medicine of the future
      Image credit: http://sciencephoto.com Social media Mobile health apps PHRs (personal health records) Consumer genomics Health social networks and crowd-sourced health studies
    • Merci! Melanie Swan Founder DIYgenomics +1-650-681-9482 @DIYgenomics www.DIYgenomics.org [email_address] Slides: http://slideshare.net/LaBlogga Creative Commons 3.0 license Collaborators: Lorenzo Albanello Janet Chang Cindy Chen John Furber Hong Guo Kristina Hathaway Laura Klemme Priya Kshirsagar Lucymarie Mantese Raymond McCauley Marat Nepomnyashy Ted Odet Roland Parnaso Thomas Pickard William Reinhardt Greg Smith Aaron Vollrath Lawrence S. Wong International collaborations: JST and Rikengenesis Takashi Kido Minae Kawashima Jin Yamanaka University Hospitals of Geneva Louis Nahum Armin Schnider Personal genome apps Crowd-sourced clinical trials
    • Stem cell therapies: status of the field
      • Uses: cell-replacement therapies, and disease modeling, drug discovery, and drug toxicity screening
      • Stem cell therapy applications in over 50 diseases
        • Heart, lung, neurodegenerative, eye disease, cancer, HIV (cure)
      • Clinical use and clinical trials
        • Dendreon’s Provenge prostate cancer, Geron spinal cord injury, Fibrocell’s laViv wrinkles, skin substitutes (Apligraf, Dermagraft)
      • Stem cell policy issues
        • Medical tourism, standards for large-scale stem cell manufacturing, and lingering embryonic stem cells use
      Image credit: http://stemcellresources.org Source: Swan, M. Steady Advance of Stem Cell Therapies. Rejuvenation Research. 2011. Forthcoming.
    • Stem cell therapies: contemporary science
      • Direct reprogramming of cells from one lineage to another without returning to pluripotency as an intermediary step
      • Improved means of generating and characterizing induced pluripotent cells
      • Progress in approaches to neurodegenerative disease
      Source: Swan, M. Steady Advance of Stem Cell Therapies. Rejuvenation Research. 2011. Forthcoming. Image credit: stemcellumbilicalcordblood.com
    • Nanomedicine
      • Drug delivery
      • Organ repair
      • DNA nanotechnology
      • Synthetic biology
      • Nanomachines
      Respirocytes Microbivore Artery cleaner Nanoparticles Vasculocyte Clottocytes DNA walker Structural DNA: Holliday junction Quantum dot dyes Farther future Now Source: Swan, M. Top ten recent nanomedical advances. Book chapter in Clinical Nanomedicine: from Bench to Bedside 2011, Forthcoming.
    • Era of 3 rd and 4 th -gen genome sequencing 3 rd Gen: Sequencing by Synthesis 2 nd Gen: Parallelized sequencing 1 st Gen: Sanger Sequencing 4 th Gen: Electronic Sequencing Sources: http://www.genomicseducation.ca/files/images/information_articles/sequencing.gif, http://www.wellcome.ac.uk/News/2009/Features/WTX056032.htm, http://www.pacificbiosciences.com/video_lg.html, http://www.nanoporetech.com/sequences