Future of Health Overview of Participant -driven Research

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Future of Health: Overview of Participant -driven Research and Medicine 37 th health seminar "Patient-driven research and medicine" November 10, 2011, Lausanne Switzerland Slides: http: //slideshare. net/La. Blogga Melanie Swan Founder DIYgenomics +1 -415 -505 -4426 @DIYgenomics www. DIYgenomics. org m@melanieswan. com

About Melanie Swan § § § Founder DIYgenomics, futurist and applied genomics expert Current projects: Melanie. Swan. com Education: MBA Finance, Wharton; BA French/Economics, Georgetown Univ Work experience: Fidelity, JP Morgan, i. Pass, RHK/Ovum, Arthur Andersen Sample publications: § § § 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. , Mc. Cauley, R. , Vollrath, A. Citizen science genomics as a model for crowdsourced preventive medicine research. J Participat Med. 2010, Dec 23; 2: e 20. 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. November 10, 2011 DIYgenomics. org Source: http: //melanieswan. com/publications. htm 1

Top 10 list of participative health initiatives Personal health records Image credit: http: //www. dreamstime. com Social media Smartphone health apps Health social networks 2010 November 10, 2011 DIYgenomics. org Automated selftracking devices Crowdsourced health studies Health advisor Microbiomics Blood tests 2. 0 Personalized genomics Whole human genome sequencing 2015 2020+ 2

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 § November 10, 2011 DIYgenomics. org Image credit: Natasha Vita-More, Primo Posthuman 3

Information transmission eras Analog Digital Life code ? 17, 300 years ago 1455&1950 -2000 -2100+ Painting, scrolls Press, Transistor DNA ? November 10, 2011 DIYgenomics. org 4

Biology is an information technology DNA sequencing: 10 x/yr improvement I love you 010010000001101100011 0111101100101001000 000111100101101110101 I hate you 010010000001101000011 0000101110100011001000 000111100101101110101 Image credit: http: //pubs. acs. org/cen/_img/87/i 50/8750 cover 2_law. gif November 10, 2011 DIYgenomics. org 5

Biology is the information technology Organ regeneration (urethra) Algal biofuel Image credit: Anthony Atala lab Image credit: http: //www. rexresearch. com Artificial cell booted to life Whole organ decellularization and DNA nanotechnology latch Image credit: J. Craig Venter Institute recellularization (heart) box for drug delivery Image credit: Thomas Matthiesen November 10, 2011 DIYgenomics. org Image credit: Aarhus University 6

Rising worldwide health care costs November 10, 2011 DIYgenomics. org Source: http: //www. kff. org/insurance/snapshot/OECD 042111. cfm 7

Woeful state of global public health systems § Rising health care costs § Aging populations worldwide § 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 reticence 1 § § Upcoming period of care rationing? November 10, 2011 DIYgenomics. org 1 Source: http: //www. innovationnewsdaily. com/medical-innovation-pharmaceutical-drugs-2090 8

Citizen science definition § Performing scientific investigation without professional training in the field Image credit: http: //www. southernfriedscience. com Institutional science research Citizen science health and biology Citizen science: 200+ organizations 1 November 10, 2011 DIYgenomics. org 1 http: //scienceforcitizens. net/finder 9

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 credit: http: //diybionyc. blogspot. com November 10, 2011 DIYgenomics. org Image credits: http: //www. biocurious. org 10

Participative health definition § Health 2. 0, Medicine 2. 0, e. Health, 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 November 10, 2011 DIYgenomics. org 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 12

Participative health activities (Light) Social media Level of Engagement Mobile health apps PHRs (personal health records) Consumer genomics (Heavy) Health social networks and crowd-sourced health studies Image credit: Getty Images November 10, 2011 DIYgenomics. org 13

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 November 10, 2011 DIYgenomics. org 14

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 November 10, 2011 DIYgenomics. org 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/PS 34 -1 -Denise. Silber. pdf 15

Social media health tech: Physician consultation and review Image credit: http: //www. webicina. com Image credit: http: //www. 3 gdoctor. com November 10, 2011 DIYgenomics. org Image credit: http: //www. americanwell. com 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 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 § Intimate continuous interaction platform § § Phone loss noticed within 5 minutes vs. 1 hour for wallet loss November 10, 2011 DIYgenomics. org 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. PLo. S 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. 17

Smartphone health apps § Consumer uses § § Education, information, and self-tracking Physician uses § § Image credit: http: //www. mobihealthnews. com Access patient information, contact colleagues, information lookup (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: tehgaygeek. blogspot. com November 10, 2011 DIYgenomics. org 1 Dufau S. Smart phone, smart science: how the use of smartphones can revolutionize research in cognitive science. PLo. S One. 2011. 18

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 § § Image credit: http: //mymedsphr. com 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 § November 10, 2011 DIYgenomics. org 19

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 § § Image credit: http: //glennamoe. com Sermo (global), Blog. FMC (France+), Good Doctor’s Forum (China), Doctors. Net (UK) Consumer/patient-focused November 10, 2011 DIYgenomics. org 20

Health social networks and collaboration Health social networks (global & local) November 10, 2011 DIYgenomics. org Health collaboration communities 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. 21

Global perspective: culture matters US: early adopter § UK: public health initiatives § Europe § Image credit: http: //www. worldofstock. com 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) November 10, 2011 DIYgenomics. org 1 French National Reference Center for Health Care and Autonomy 22

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: rs 1801133 AG AA, AG, GG Example: rs 7412 CT CC, CT, TT Image credit: http: //123 RF. com November 10, 2011 DIYgenomics. org

Numerous useful applications of genomics 1. Established Ancestry § Carrier status § Identity (paternity, forensics) § 2. Maturing Health condition risk 1 § Pharmaceutical response 2 § 3. Novel Athletic performance capability § OTC product response § Environment/toxin processing § 4. Image credit: http: //bit. ly/fovp. Jc Farther future § Predictive wellness profiling: aging, cancer, immune response November 10, 2011 DIYgenomics. org 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/Science. Research/Research. Areas/Pharmacogenetics/ucm 083378. htm 25

Direct-to-consumer genomics: 23 and. Me 1, 000 SNPs scanned and mapped to 214 conditions November 10, 2011 DIYgenomics. org Source: http: //www. 23 andme. com; open source genomes http: //www. snpedia. com/index. php/Genomes 26

23 and. Me colorectal cancer marker November 10, 2011 DIYgenomics. org Source: http: //www. 23 andme. com 27

23 and. Me colorectal cancer marker November 10, 2011 DIYgenomics. org Source: http: //www. 23 andme. com 28

Pathway Genomics drug response November 10, 2011 DIYgenomics. org Source: http: //www. pathway. com 29

Consumer genomics comparison scorecard § Which service to buy? Consumer genomic service # Conditions Cost Report Data access Visible research quality 1 Updates de. CODEme 49 $2, 000 + + 23 andme 214 $99 40 $999 + Navigenics* Pathway Genomics* 71 $299 Coriell (10, 000 partic. 7/11) 15 public study PGP (Personal Genome Project) n/a public study *Physician prescription required November 10, 2011 DIYgenomics. org 1 Conditions, genes, variants, underlying research references, and methodology white paper(s) available on public website

Open-source mobile apps (5, 000+ downloads) Health condition, drug response, athletic performance capability § Private 23 and. Me data upload § § TTT TCC Android “genomics” 4, 000+ downloads § i. Phone “genomics” 1, 000+ downloads November 10, 2011 DIYgenomics. org Android development: Michael Kolb, Lawrence S. Wong, Laura Klemme, Melanie Swan i. OS development: Ted Odet, Greg Smith, Laura Klemme, Melanie Swan 31

DIY genotyping kits: Cofactor Bio § 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 November 10, 2011 DIYgenomics. org 1 Source: http: //cofactorbio. com/education 32

Example: what to do with your data § § § Check if you have the risk allele for the BDNF gene Determine related SNP/rs. ID#, rs 6265 (neuroplasticity) Search genomic data for rs 6265 genotype (e. g. , CC) Determine the risk allele (which letter? ) (e. g. ; G 1) Current genomics search resources § Pharm. GKB, db. SNP, GWAS catalog, SNPedia November 10, 2011 DIYgenomics. org Source: http: //www. wired. com/wiredscience/2009/10/genetically-bad-driving 1 Ribeiro, L. et. Al. , The brain-derived neurotrophic factor rs 6265 (Val 66 Met) polymorphism and depression in Mexican-Americans. Cellular, Molecular and Developmental Neuroscience. May 8, 2007. 33

Finding your BDNF data, variant rs 6265 § Consumer genomic services genotype 1 million variants but only map a few up to the annotation browser November 10, 2011 DIYgenomics. org 34

Athletic performance November 10, 2011 DIYgenomics. org Source: http: //www. genome. duke. edu/education/seminars/journal-club/documents/Assael_2009. pdf 35

Athletic performance Category Image credit: http: //www. istockphoto. com Genes V % S Endurance, power, and energy Endurance ACE, ACTN 3, ADRB 2/ ADRB 3, BDKRB 2, COL 5 A 1, GNB 3 7 50 22 Power ACE, ACTN 3, AGT 3 50 8 Energy HIF 1 A, PPARGC 1 A 3 25 9 Musculature, and heart and lung capacity Muscle fatigue and repair HNF 4 A, NAT 2 and IL-1 B 5 40 4 Strength HFE, HIF 1 A, IGF 1, MSTN GDF 8 5 17 15 Heart and lung capacity CREB 1, KIF 5 B, NOS 3, NPY and ADRB 1, APOE, NRF 1 9 36 11 Metabolism, recovery, and other Metabolism AMPD 1, APOA 1, PPARA, PPARD 5 50 9 Recovery CKMM/CKM, IL 6 2 50 5 Ligament and tendon strength Ligament strength COL 1 A 1, COL 5 A 1, CILP 3 50 4 Tendon strength COL 1 A 1, COL 5 A 1, GDF 5, MMP 3 7 63 5 V = number of variants; % = ratio of favorable polymorphisms to total alleles for a sample individual; S = number of studies November 10, 2011 DIYgenomics. org Source: Swan, M. Applied genomics: personalized interpretation of athletic performance GWAS. 2011. Submitted. 36

Lung cancer risk and drug response § Risk and drug response for specific cancers November 10, 2011 DIYgenomics. org Image credit: http: //www. xianet. net 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. 37

Predictive wellness profiling: cancer Image credit: http: //utmb. edu § Proto-oncogene/tumor suppressor gene polymorphisms TP 53: cell cycle arrest, PTEN: cell cycle progression modulator, MYC: cell cycle regulator November 10, 2011 DIYgenomics. org Source: DIYgenomics 38

Wellness profiling: immune system Immune system genomic wellness profiling § Immune response: T-cell activation § § CTLA 4, CD 226, CD 86, IL 3 Image credit: http: //www. iayork. com CTLA 4: T-cell inhibition; IL 3: growth-promoting cytokine November 10, 2011 DIYgenomics. org Source: DIYgenomics 39

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) November 10, 2011 DIYgenomics. org Source: DIYgenomics 1 P&G, Kaczvinsky JR et al, Skin Therapy Lett, 2011 Image credit: http: //sciencephoto. com 40

Microbiomics Skin microbiome ecosystem distribution 10 x human cells (2 kg, +4°C), 150 x 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 November 10, 2011 DIYgenomics. org 41

GI microbiome project: my. microbes. eu § EMBL Heidelberg, 1451 € § Enterotype affiliation 1 Bacteroides (biotin synthesis) 2. Prevotella (thiamine synthesis) 3. Ruminococcus (folate synthesis) Science for everyone 1. § Enterotype affiliation analysis Novel promicrobial and antimicrobial treatments Stimulatory § Inhibitory § Image credits: my. microbes. eu November 10, 2011 DIYgenomics. org 1 Source: Arumugam M et al. Enterotypes of the human gut microbiome. Nature. 2011 May 12; 473(7346): 174 -80. 42

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 § § Image credit: http: //www. sonypictures. com Biocitizenry, health as a basic human right Image credit: http: //sciencephoto. com November 10, 2011 DIYgenomics. org 43

Direct-to-consumer genomics trade-offs Drawbacks § § Unregulated Usefulness of information § Unclear correlation § Polygenic disease § Lack of therapies Results interpretation § Genetic counseling § False positives, false negatives Insurance and employment discrimination November 10, 2011 DIYgenomics. org Advantages § § 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 44

Crowdsourced health studies § Definition: § § 1. Genotype profiles Research studies that derive participants and data from a large group of people through an open call Researcher-organized Patients. Like. Me § 23 and. Me § § DIYgenomics MTHFR Vitamin B deficiency study 1 umol/l 2. Homocysteine levels Participant-organized Quantified Self § Genomera § DIYgenomics § November 10, 2011 DIYgenomics. org Blood Test # Baseline Centrum LMF C + LMF Baseline 1 Source: Swan, M. , Hathaway, K. , Hogg, C. , Mc. Cauley, R. , Vollrath, A. Citizen science genomics as a model for crowdsourced preventive medicine research. J Participat Med. 2010 Dec 23; 2: e 20. Results are not statistically significant and intended as a pilot demonstration 46

Patients. Like. Me 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%) § November 10, 2011 DIYgenomics. org Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted. 47

Patients. Like. Me: drug-related studies § Off-label use for amitriptyline (depression) and modafinil (wakefullness-promoting; narcolepsy and sleep apnea) Image credit: http: //wdfyfe. wordpress. com 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 November 10, 2011 DIYgenomics. org Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted. 48

Patients. Like. Me: 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 realworld outcomes § Identify and create new tools to further empower health selfmanagement, for example to facilitate patient-organized studies § November 10, 2011 DIYgenomics. org Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted. 49

23 and. Me 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 (rs 6812193 and rs 11868035) § § 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 § November 10, 2011 DIYgenomics. org Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted. 50

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 November 10, 2011 DIYgenomics. org Image credit: Quantified Self Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted. 51

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 November 10, 2011 DIYgenomics. org 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. 52

Genomera ‘e. Bay of health studies’ November 10, 2011 DIYgenomics. org Nov 2011: 300+ community members, 20 studies with 10 -65 enrollees Site access through www. DIYgenomics. org 53

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. Genotype November 10, 2011 DIYgenomics. org + Phenotype + Intervention = Outcome Source: Swan, M. , Hathaway, K. , Hogg, C. , Mc. Cauley, R. , Vollrath, A. Citizen science genomics as a model for crowdsourced preventive medicine research. J Participat Med. 2010, Dec 23; 2: e 20. 54

DIYgenomics participant-organized studies § 6 studies in open enrollment (vitamin deficiency, aging, and mental performance); 5 in design (oncology, calcinosis) November 10, 2011 DIYgenomics. org Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted. 55

Image credit: http: //bit. ly/g 2 DIc. W DIYgenomics memory study Goal: 100 member cohort • Genotype: COMT, DRD 2, SLC 6 A 3 (~5 SNPs) (neurotransmitter modulation) • Phenotype: memory test (2025 minutes) • Background questionnaire November 10, 2011 DIYgenomics. org Source: http: //genomera. com/studies/aging-telomere-length-and-telomerase-activation-therapy 56

DIYgenomics Retin-A skin cream study § Genetic profiling can predict Retin-A side-effects? November 10, 2011 DIYgenomics. org Source: http: //genomera. com/studies/retin-a-wonder-cream-for-acne-and-wrinkles-is-there-a-genomic-link 57

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) November 10, 2011 DIYgenomics. org Source: http: //genomera. com/studies/aging-telomere-length-and-telomerase-activation-therapy 58

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 November 10, 2011 DIYgenomics. org 60

Engaging personal health collaborators § Construct relevant value propositions to diverse target markets § Make participation fun and easy § Frame with nomenclature § Enhancement, optimization, improvement (Light) Social media November 10, 2011 DIYgenomics. org Image credit: http: //www. liberatemedia. com Participative Health Activities by Level of Engagement Mobile health apps PHRs (personal health records) Consumer genomics (Heavy) Health social networks and crowd-sourced health studies 61

Three participative health user groups Needs: obtain information and take action § The health decision maker § Layperson, health decision maker 1 Education, clearly digestible information, service comparison, recommendations November 10, 2011 DIYgenomics. org Health optimizer Health professional Accessible technical information that can be verified and turned into actions Rapid information access, research references, custom configurability, personal data upload, search 155 year old women are the biggest health decision makers in the US Image credits: www. ehow. com, www. DIYgenomics. org, ergonomic-office-supplies. com 62

Professionalizing participative health: innovating the research model Traditional Research Model Patient-organized Research Model Institutional Review Board (IRB) IRBs, FAQs, Citizen ethicists Grant funding Research subjects Journal publication Patient advocacy groups Citizen scientists Research foundations Institutional PI (principal investigator) Investigators = Participants Self publishing Social VC Crowdsourcing November 10, 2011 DIYgenomics. org 63

Professionalizing participative health: the CRO 1 2. 0 ecosystem November 10, 2011 DIYgenomics. org 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. 64

Professionalizing participative health: Philosophical validation § Towards an epistemology of citizen science § Provide a structure and context for participant-derived health knowledge Q 1: Are new kinds of knowledge are being formed through group collaborations such as wikipedia and health social networks? § Q 2: How to characterize the knowledge generated by traditional medicine, self-experimentation, and health collaboration communities? § November 10, 2011 DIYgenomics. org Image credit: http: //inkingrey. com 65

Ontological shift Image credit: http: //efx 3. 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 November 10, 2011 DIYgenomics. org 66

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, e. GFR, Cortisol, Calcium, Iron) § Hormones (Estrogen, Progesterone, Testosterone, Estradiol) § Immune system: CD 4, CD 8/CD 28 ratio, IL-1, IL-6 § Chemical / heavy metal burden: mercury, cadmium, lead, tin § Cholestech LDX home cholesterol test November 10, 2011 DIYgenomics. org Or. Sense continuous non-invasive glucose monitoring ZRT Labs dried blood spot tests Source: http: //futurememes. blogspot. com/2011/10/blood-tests-20 -advances-with-dried. html 67

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/TA 65_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 November 10, 2011 DIYgenomics. org Slides: http: //slideshare. net/La. Blogga 68

Study design template: Vitamin B deficiency Cyanocobalamin Image credit: http: //wikimedia. org November 10, 2011 DIYgenomics. org Source: http: //diygenomics. pbworks. com/w/file/36469280/DIYgenomics+study+design+template+blank. doc 69

Role of participative 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 Individual 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 November 10, 2011 DIYgenomics. org 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. 71

Health self-management A new model of health and health care November 10, 2011 DIYgenomics. org 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. 72

Image credit: http: //www. sldesigns. com But wait… 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 November 10, 2011 DIYgenomics. org 74

Participative health summary § The right solution at the right time § Embedded in the public health ecosystem Image credit: http: //sciencephoto. com § Biology: infotech transistor of the 21 st century § Advances in participant-driven research and medicine Social media § Mobile health apps PHRs (personal health records) Consumer genomics Health social networks and crowd-sourced health studies Participative health is integral to realizing the personalized, preventive medicine of the future November 10, 2011 DIYgenomics. org 75

Merci! Crowd-sourced clinical trials Personal genome apps 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 Raymond Mc. Cauley Creative Commons 3. 0 license Slides: http: //slideshare. net/La. Blogga Melanie Swan Founder DIYgenomics 415 -505 -4426 @DIYgenomics www. DIYgenomics. org m@melanieswan. com

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 § § § Clinical use and clinical trials § § Heart, lung, neurodegenerative, eye disease, cancer, HIV (cure) Dendreon’s Provenge prostate cancer, Geron spinal cord injury, Fibrocell’s la. Viv wrinkles, skin substitutes (Apligraf, Dermagraft) Stem cell policy issues § Medical tourism, standards for large-scale stem cell manufacturing, and lingering embryonic stem cells use November 10, 2011 DIYgenomics. org Source: Swan, M. Steady Advance of Stem Cell Therapies. Rejuvenation Research. 2011. Forthcoming. Image credit: http: //stemcellresources. org 77

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 Image credit: stemcellumbilicalcordblood. com November 10, 2011 DIYgenomics. org Source: Swan, M. Steady Advance of Stem Cell Therapies. Rejuvenation Research. 2011. Forthcoming. 78

Nanomedicine § § § Drug delivery Now Organ repair DNA nanotechnology Synthetic biology Nanomachines Farther future Respirocytes November 10, 2011 DIYgenomics. org Nanoparticles Structural DNA: Holliday junction Microbivore Clottocytes DNA walker Artery cleaner Quantum dot dyes Vasculocyte Source: Swan, M. Top ten recent nanomedical advances. Book chapter in Clinical Nanomedicine: from Bench to Bedside 2011, Forthcoming. 79

Era of 3 rd and 4 th-gen genome sequencing 1 st Gen: Sanger Sequencing 3 rd Gen: Sequencing by Synthesis 2 nd Gen: Parallelized sequencing 4 th Gen: Electronic Sequencing November 10, 2011 DIYgenomics. org Sources: http: //www. genomicseducation. ca/files/images/information_articles/sequencing. gif, http: //www. wellcome. ac. uk/News/2009/Features/WTX 056032. htm, http: //www. pacificbiosciences. com/video_lg. html, http: //www. nanoporetech. com/sequences 80