DIYgenomics community computing health models

DIYgenomics crowdsourced health studies:personal wellness and preventive medicine through collective intelligence Melanie Swan FounderAAAI 2012 Spring Symposium DIYgenomicsSelf-Tracking and Collective Intelligence for +1-650-681-9482Personal Wellness @DIYgenomics www.DIYgenomics.orgMarch 26, 2012, Stanford University m@melanieswan.comSlides: 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 2DIYgenomics.org

Top 10 collective intelligence health trends Automated self- tracking devices Image credit: Personal Microbiomicshttp://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 3DIYgenomics.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 PosthumanMarch 26, 2012 4DIYgenomics.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 erasEnumeration 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 MetabolomicsMarch 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. 7DIYgenomics.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 trackingMarch 26, 2012 8DIYgenomics.org

Rising worldwide health care costsMarch 26, 2012 Source: http://www.kff.org/insurance/snapshot/OECD042111.cfm 9DIYgenomics.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 computingMarch 26, 2012 1 Source: http://www.innovationnewsdaily.com/medical-innovation-pharmaceutical-drugs-2090 10DIYgenomics.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 PosthumanMarch 26, 2012 11DIYgenomics.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.comMarch 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 12DIYgenomics.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 ImagesMarch 26, 2012 13DIYgenomics.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.comMarch 26, 2012 14DIYgenomics.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.comMarch 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 15DIYgenomics.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. 16DIYgenomics.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 roleMarch 26, 2012 17DIYgenomics.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, consumerMarch 26, 2012 personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525. 18DIYgenomics.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.comMarch 26, 2012DIYgenomics.org

Numerous useful applications of genomics1. Established  Ancestry  Carrier status  Identity (paternity, forensics)2. Maturing  Health condition risk1  Pharmaceutical response23. Novel  Athletic performance capability  OTC product response  Environment/toxin processing Image credit: http://bit.ly/fovpJc4. Farther future  Predictive wellness profiling: aging, cancer, immune responseMarch 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 21DIYgenomics.org

23andMe colorectal cancer markerMarch 26, 2012 Source: http://www.23andme.com 22DIYgenomics.org

Pathway Genomics drug responseMarch 26, 2012 Source: http://www.pathway.com 23DIYgenomics.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” iPhoneMarch 26, 2012 Android development: Michael Kolb, Lawrence S. Wong, Laura Klemme, Melanie Swan iOS development: Ted Odet, Greg Smith, Laura Klemme, Melanie Swan 25DIYgenomics.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, SNPediaMarch 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 browserMarch 26, 2012DIYgenomics.org 27

Athletic performanceMarch 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. 28DIYgenomics.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.comMarch 26, 2012 29DIYgenomics.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 = OutcomeMarch 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. 31DIYgenomics.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 32DIYgenomics.org

Mar 2012: 300+ community members,Genomera 20 studies with 10-65 enrollees Site access through‘eBay of health studies’ www.DIYgenomics.orgMarch 26, 2012 33DIYgenomics.org

Image credit: http://bit.ly/g2DIcWDIYgenomics memory study Goal: 100 member cohort •Genotype: COMT, DRD2, SLC6A3 (~5 SNPs) (neurotransmitter modulation) •Phenotype: memory test (20-25 minutes) •Background questionnaireMarch 26, 2012 Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy 34DIYgenomics.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 35DIYgenomics.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 36DIYgenomics.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):e46March 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. 37DIYgenomics.org Results are not statistically significant and intended as a pilot demonstration

Genotype + Phenotype + Intervention = OutcomeStandard 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 fieldMarch 26, 2012 Source: DIYgenomics 38DIYgenomics.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 treatmentMarch 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. 40DIYgenomics.org

Health self-management A new model of health and health careMarch 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. 41DIYgenomics.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 easyMarch 26, 2012 42DIYgenomics.org

Biotechnicity and computational philosophy Metaphysical shift: new ways of being •Meaning of health and health outcomes •Sense of self and group identity, biocitizenryImage 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

Top 10 collective intelligence health trends Automated self- tracking devices Image credit: Personal Microbiomicshttp://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 45DIYgenomics.org

Image credit: http://www.sldesigns.comBut 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 systemsMarch 26, 2012 46DIYgenomics.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 futureMarch 26, 2012 47DIYgenomics.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.orgCreative Commons 3.0 license Slides: http://slideshare.net/LaBlogga m@melanieswan.com

DIYgenomics community computing health models

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