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

1. DIYgenomics crowdsourced health studies:
personal wellness and preventive medicine through
collective intelligence
Melanie Swan
Founder
AAAI 2012 Spring Symposium DIYgenomics
Self-Tracking and Collective Intelligence for +1-650-681-9482
Personal Wellness @DIYgenomics
www.DIYgenomics.org
March 26, 2012, Stanford University m@melanieswan.com
Slides: http://slideshare.net/LaBlogga

2. About Melanie Swan
 Founder DIYgenomics, futurist and applied
genomics expert
 Current projects: MelanieSwan.com
 Education: MBA Finance, Wharton; BA
French/Economics, Georgetown Univ
 Work experience: Fidelity, JP Morgan, iPass,
RHK/Ovum, Arthur Andersen
 Sample publications:
 Swan, M. Crowdsourced Health Research Studies: An Important Emerging Complement to Clinical
Trials in the Public Health Research Ecosystem. J Med Internet Res 2012, Mar;14(2):e46.
 Swan, M. Scaling crowdsourced health studies: the emergence of a new form of contract research
organization. Personalized Medicine 2012, Mar;9(2):223-234.
 Swan, M. Steady advance of stem cell therapies. Rejuvenation Res 2011, Dec;14(6):699-704.
 Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for
crowdsourced preventive medicine research. J Participat Med 2010, Dec 23; 2:e20.
 Swan, M. Multigenic Condition Risk Assessment in Direct-to-Consumer Genomic Services. Genet Med
2010, May;12(5):279-88.
 Swan, M. Emerging patient-driven health care models: an examination of health social networks,
consumer personalized medicine and quantified self-tracking. Int J Environ Res Public Health 2009, 2,
492-525.
March 26, 2012 Source: http://melanieswan.com/publications.htm
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3. Top 10 collective intelligence health trends
Automated self-
tracking devices
Image credit: Personal Microbiomics
http://www.dreamstime.com
health records
Social media Crowdsourced
health studies Blood tests 2.0
Smartphone
health apps Health
advisor
Health social Whole human
Personalized genome
networks genomics sequencing
2010 2015 2020+
March 26, 2012
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DIYgenomics.org

4. Agenda
 Introduction: context for participatory health
 Participant-driven health initiatives
 Social media, smartphone health apps, PHRs
 Personalized genomics
 Crowdsourced studies
 Next-generation participatory health
 Conclusion
Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
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5. Information transmission eras
Analog Digital Life code ?
17,300 years ago 1455&1950-2000 2000-2100 2100+
Painting, scrolls Press, Transistor DNA ?
March 26, 2012
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6. Artificial intelligence eras
Enumeration Biomimicry Big data ?
1950s 1990s+ 2000s+ 2100+
Expert syst, CYC NLP, HTM, NCC Google, Watson ?
March 26, 2012
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7. Big data: personal health informatics
DNA:
SNP mutations RNA expression
profiling
Health 2.0: Proteomics
DNA: Structural Personal health
variation informatics
Epigenetics Microbiomics
Metabolomics
March 26, 2012 Academic papers re: integrated health data streams: Auffray C, et al. Looking back at genomic medicine in 2011. Genome Med. 2012 Jan 30;4(1):9.
Chen R et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell. 2012 Mar 16;148(6):1293-307. 7
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8. Big data: collective intelligence computing
Crowdsourcing
Concierge research
Consumer genomics Citizen science
Health 2.0:
Consumer blood tests Crowdsourced
health computing
DIYbio labs
Continuous Ambient mental
sampling performance
Quantified self-
optimization
tracking
March 26, 2012
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9. Rising worldwide health care costs
March 26, 2012 Source: http://www.kff.org/insurance/snapshot/OECD042111.cfm
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10. Woeful state of global public health systems
 Rising health care costs
 Aging worldwide populations
 Anticipated physician shortages
 Cost per new drug: $1.5 billion Image credit: http://www.boomertownsquare.com
New drug apps: 23 in 2011 vs. 45 in 1996
Biotechnology investment reticence1
 Solution: big health data and crowdsourced computing
March 26, 2012 1
Source: http://www.innovationnewsdaily.com/medical-innovation-pharmaceutical-drugs-2090
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11. Agenda
 Introduction: context for participatory health
 Community computing health initiatives
 Social media, smartphone health apps, PHRs
 Personalized genomics
 Crowdsourced studies
 Next-generation participatory health
 Conclusion
Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
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12. Participatory health definition
 Health 2.0, Medicine 2.0, eHealth (2008)
 “Use of a specific set of Web [2.0] tools (blogs, Podcasts,
tagging, search, wikis, [health social networks], etc.) by
actors in health care including doctors, patients, and
scientists, using principles of…in order to personalize
health care, collaborate, and promote health education” 1
 Society for Participatory Medicine (2010)
 “Participatory Medicine is a movement in which networked
patients shift from being mere passengers to responsible
drivers of their health, and in which providers encourage
and value them as full partners”2
Image credit: http://ramialsindi.wordpress.com
March 26, 2012 1
Source: http://en.wikipedia.org/wiki/Medicine_2.0#cite_note-jmir.org-3
Source: http://e-patients.net/archives/2010/04/a-patient-centric-definition-of-participatory-medicine.html 12
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13. Participatory health activities
(Light) Level of Engagement (Heavy)
Social Mobile PHRs Consumer Health social networks
media health apps (personal genomics and crowd-sourced
health health studies
records)
Image credit: Getty Images
March 26, 2012
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14. Health 2.0 social media
 Web 2.0 in the health context
 Blogs, twitter, facebook, wikis,
search, google+, video
Image credit: http://www.siliconangle.com
March 26, 2012
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15. Social media increases responsibility-taking
 27% of US internet users track health data online1
 41% of European physicians believe social media will
play an increasingly important role in shaping patient
management and treatment2
Image credit: http://www.americanwell.com Image credit: http://www.3gdoctor.com
March 26, 2012 1
Source: http://www.pewinternet.org/Reports/2011/Social-Life-of-Health-Info.aspx
2
Source: http://www.worldofhealthit.org/sessionhandouts/documents/PS34-1-DeniseSilber.pdf 15
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16. Smartphone as personal doctor
 Mobile is the platform Image credit: http://www.psfk.com
 US: more cell phones (328 m) than people (315 m) 1
 Worldwide smartphone users
 One billion+ by 20132
 81% physicians using smartphones 20123
 Explosive growth in application (app) downloads
 5 billion in 2010 versus 300 million in 20094
 Health-related apps: 7,0004 Image credit: tehgaygeek.blogspot.com
 Studies: thousands recruited in months2
 Intimate continuous interaction platform
 Phone loss noticed within 5 minutes vs. 1 hour for wallet loss
 Kids chat with Siri as virtual friend
1
Kang C. Number of cell phones exceeds US population. Washington Post. October 11, 2011.
March 26, 2012 2
Dufau S. Smart phone, smart science: how the use of smartphones can revolutionize research in cognitive science. PLoS One. 2011.
3Kiser K. 25 ways to use your smartphone. Physicians share their favorite uses and apps. Minn Med. 2011. 16
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Boulos MN. How smartphones are changing the face of mobile and participatory healthcare. Biomed Eng Online. 2011.

17. PHRs (personal health records)
 Patient-administered medical records
Image credit: http://mymedsphr.com
 PHR use is growing
 11% PHR use in 2011, +3% from 2008
(Deloitte) Image credit: http://www.mobihealthnews.com
 Aetna 1.5 million users (Sep 2011)
 Improved health outcomes
 PHR users 68% better at following up on
recommended care
 Empowers health self-management, more
active role
March 26, 2012
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18. Health social networks and collaboration
Health social Health
networks collaboration
(global & local) communities
Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
March 26, 2012 personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525. 18
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19. Agenda
 Introduction: context for participatory health
 Participant-driven health initiatives
 Social media, smartphone health apps, PHRs
 Personalized genomics
 Crowdsourced studies
 Next-generation participatory health
 Conclusion
Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
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20. Personalized genomics definition
 Using genetic sequencing profiles of individuals in
health and wellness decisions
 Consumer cost = $99
 International availability, 100,000+ subscribers
Allele, variant, SNP (single nucleotide
polymorphism); “typo” in red; normal in
green
Example: rs1801133 AG AA, AG, GG
Example: rs7412 CT CC, CT, TT
Image credit: http://123RF.com
March 26, 2012
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21. Numerous useful applications of genomics
1. Established
 Ancestry
 Carrier status
 Identity (paternity, forensics)
2. Maturing
 Health condition risk1
 Pharmaceutical response2
3. Novel
 Athletic performance capability
 OTC product response
 Environment/toxin processing Image credit: http://bit.ly/fovpJc
4. Farther future
 Predictive wellness profiling: aging, cancer, immune response
March 26, 2012
1
Source: Swan M. Multigenic condition risk assessment in direct-to-consumer genomic services. Genet Med. 2010 May;12(5):279-88.
2
Source: http://www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm 21
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22. 23andMe colorectal cancer marker
March 26, 2012 Source: http://www.23andme.com
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23. Pathway Genomics drug response
March 26, 2012 Source: http://www.pathway.com
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24. Consumer genomics comparison scorecard
 Which service to buy?
Consumer # Cost Report Data Visible Updates
genomic service Cond- access research
itions quality1
49 $2,000 +  + 
214 $99    +
40 $999
*  
71 $299
* 
15 public
study
n/a public
study
*Physician prescription required
March 26, 2012
1
Conditions, genes, variants, underlying research references, and methodology white paper(s) available on public website
DIYgenomics.org

25. Open-source mobile apps (5,000+ downloads)
 Health condition, drug
response, athletic
performance capability T T T
 Private 23andMe data upload T T T
T C C
 Android
“genomics or
DIYgenomics”
 iPhone
March 26, 2012 Android development: Michael Kolb, Lawrence S. Wong, Laura Klemme, Melanie Swan
iOS development: Ted Odet, Greg Smith, Laura Klemme, Melanie Swan 25
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26. Example: what to do with your data
 Check if you have the risk allele for the BDNF gene
 Determine related SNP/rsID#, rs6265 (neuroplasticity)
 Search genomic data for rs6265 genotype (e.g., CC)
 Determine the risk allele (which letter?) (e.g.; G1)
 Current genomics search resources
 PharmGKB, dbSNP, GWAS catalog, SNPedia
March 26, 2012 Source: http://www.wired.com/wiredscience/2009/10/genetically-bad-driving
1
Ribeiro, L. et. Al., The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans. Cellular,
DIYgenomics.org Molecular and Developmental Neuroscience. May 8, 2007. 26

27. Finding your BDNF data, variant rs6265
 Consumer genomic
services genotype 1
million variants but only
map a few up to the
annotation browser
March 26, 2012
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28. Athletic performance
March 26, 2012 Source: http://www.genome.duke.edu/education/seminars/journal-club/documents/Assael_2009.pdff, Swan, M. Applied
genomics: personalized interpretation of athletic performance GWAS. 2012. In press. 28
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29. Genome politics and regulation
 Our world is not Gattaca
 Personal genomics has
destigmatized health issues
 Issues: human cloning, sex selection,
genetic privacy, non-discrimination
 UN Convention on Human Rights and
Biomedicine 1997 (Ch IV Human Genome) Image credit: http://www.sonypictures.com
 U.S. Genetic Information Nondiscrimination
Act (GINA) 2008
 Biocitizenry, health as a human right Image credit: http://sciencephoto.com
March 26, 2012 29
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30. Agenda
 Introduction: context for participatory health
 Participant-driven health initiatives
 Social media, smartphone health apps, PHRs
 Personalized genomics
 Crowdsourced studies
 Next-generation participatory health
 Conclusion
Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
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31. DIYgenomics
 Goal: preventive medicine Image credit: stemcellumbilicalcordblood.com
 Realize preventive medicine by establishing baseline markers
of wellness and pre-clinical interventions
 Generalized hypothesis
 One or more polymorphisms may result in out-of-bounds
baseline levels of phenotypic markers. These levels may be
improved through personalized intervention.
Genotype + Phenotype + Intervention = Outcome
March 26, 2012 Source: Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for crowdsourced
preventive medicine research. J Participat Med. 2010, Dec 23; 2:e20. 31
DIYgenomics.org

32. DIYgenomics participant-organized studies
 7 studies in open enrollment (vitamin deficiency, aging, and
mental performance); 5 in design (oncology, calcinosis)
March 26, 2012 Source: Swan, M., Crowdsourced health research studies. J Med Internet Res 2012, Mar;14(2):e46 32
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33. Mar 2012: 300+ community members,
Genomera 20 studies with 10-65 enrollees
Site access through
‘eBay of health studies’ www.DIYgenomics.org
March 26, 2012
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34. Image credit: http://bit.ly/g2DIcW
DIYgenomics memory study
Goal: 100 member cohort
•Genotype: COMT, DRD2,
SLC6A3 (~5 SNPs)
(neurotransmitter modulation)
•Phenotype: memory test (20-25
minutes)
•Background questionnaire
March 26, 2012 Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
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35. DIYgenomics Retin-A skin cream study
 Genetic profiling can predict Retin-A side-effects?
March 26, 2012 Source: http://genomera.com/studies/retin-a-wonder-cream-for-acne-and-wrinkles-is-there-a-genomic-link
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36. DIYgenomics TA-65 aging study
 Telomerase genes, telomere length, and intervention
 Telomere-lengthening and immune system benefits (Harley
CB et al, Rejuvenation Res, 2011, de Jesus BB et al, Aging Cell, 2011)
March 26, 2012 Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
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37. Crowdsourced health studies1
DIYgenomics MTHFR Vitamin B deficiency study2
 Definition:
1. Genotype profiles
 Research studies that
derive participants and
data from a large group
of people through an
open call
 Researcher-organized
2. Homocysteine levels
 PatientsLikeMe umol/l
 23andMe
 Participant-organized
 Quantified Self
 Genomera
Blood Test #
 DIYgenomics Baseline Centrum LMF C + LMF Baseline
1
Source: Swan, M., Crowdsourced health research studies. J Med Internet Res 2012, Mar;14(2):e46
March 26, 2012 2
Source: Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for crowdsourced
preventive medicine research. J Participat Med. 2010 Dec 23; 2:e20. 37
DIYgenomics.org
Results are not statistically significant and intended as a pilot demonstration

38. Genotype + Phenotype + Intervention = Outcome
Standard study protocol – methodology
 Collect relevant genomic SNP data
 Literature search for polymorphisms associated with condition
 Measure relevant phenotypes before and after (typical
study duration = 1 month)
 Quantitative measures: blood test, self-tracking device data
 Qualitative measures: user surveys
 Intervention (n=100 to 1000)
 Group A: nothing (control)
 Group B: intervention 1 (experimental group 1)
 Group C: intervention 2 (experimental group 2) Image credit: http://sciencemag.org
 Advisors: confirm protocol design with two independent
academics or professionals in the field
March 26, 2012 Source: DIYgenomics
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39. Agenda
 Introduction: context for participatory health
 Participant-driven health initiatives
 Social media, smartphone health apps, PHRs
 Personalized genomics
 Crowdsourced studies
 Next-generation participatory health
 Conclusion
Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
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DIYgenomics.org

40. Role of participatory health: future medicine
1. Continuous health information climate
Automated digital health monitoring, self-tracking devices,
and mobile apps providing personalized recommendations
2. Peer collaboration and
health advisors
Health social networks, crowdsourced
studies, health advisors, wellness
coaches, preventive care plans,
Individual boutique physicians, genetics coaches,
aestheticians, medical tourism
3. Public health system
Deep expertise of traditional health system
for disease and trauma treatment
March 26, 2012 Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525. 40
DIYgenomics.org

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

42. Ontological shift
Image credit: http://efx3.com
Old thinking:
My health is the responsibility of my physician
New thinking:
My health is my responsibility
… and I have the tools to make managing it easy
March 26, 2012
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43. Biotechnicity and computational philosophy
Metaphysical shift: new ways of being
•Meaning of health and health outcomes
•Sense of self and group identity, biocitizenry
Image credit: http://stemcellresources.org
Epistemic advance: new knowledge generation
•Content: New data streams, larger data sets, more granular data, higher
order magnitude science
•Process: New algorithms and new models
Computational tools of health-related philosophical discovery
•Hardware and software devices and algorithms: quantitative health data streams, health-
related smartphone applications, personal electronic health records, quantified self-
tracking devices
•Crowdsourced human computing networks: crowdsourced disease prediction, health
social networks, quantified self n=1 health self-experimentation, crowdsourced health
research studies, DIYbio labs
March 26, 2012 Source: Swan, M. Biotechnicity 2.0: Computation-enabled Philosophical Advance in the Epistemology of Human Biology and the
Ontology of Bioidentity. 2012. Submitted. 43
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44. Agenda
 Introduction: context for participatory health
 Participant-driven health initiatives
 Social media, smartphone health apps, PHRs
 Personalized genomics
 Crowdsourced studies
 Next-generation participatory health
 Conclusion
Image credit: Natasha Vita-More, Primo Posthuman
March 26, 2012
44
DIYgenomics.org

45. Top 10 collective intelligence health trends
Automated self-
tracking devices
Image credit: Personal Microbiomics
http://www.dreamstime.com
health records
Social media Crowdsourced
health studies Blood tests 2.0
Smartphone
health apps Health
advisor
Health social Whole human
Personalized genome
networks genomics sequencing
2010 2015 2020+
March 26, 2012
45
DIYgenomics.org

46. Image credit: http://www.sldesigns.com
But wait…
Drawbacks to participatory health
• Health hobbyist niche, not mainstream
• Perceptions of health: negative, deterministic
• Anemic participation in health collaboration communities
• Financial incentives required for self health monitoring
• Unclear how to incorporate into public health systems
March 26, 2012
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47. Summary: community health computing
 The right solution at the right time
 Embedded in the public health ecosystem
 Biotechnicity = the transistor of the 21st century
Image credit: http://sciencephoto.com
 Advances in participatory health computing
Social media Mobile PHRs Consumer Health social networks and
health apps (personal genomics crowd-sourced health
health studies
records)
 Participatory health is integral to realizing the
personalized, preventive medicine of the future
March 26, 2012
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48. Crowd-sourced clinical trials
Personal genome apps
Thank you!
Collaborators: International collaborations:
Lorenzo Albanello Marat Nepomnyashy
Janet Chang Ted Odet JST and Rikengenesis
Cindy Chen Roland Parnaso Takashi Kido
John Furber Thomas Pickard Minae Kawashima
Hong Guo William Reinhardt Jin Yamanaka
Kristina Hathaway Greg Smith
Laura Klemme Aaron Vollrath University Hospitals of Geneva
Priya Kshirsagar Lawrence S. Wong Louis Nahum
Lucymarie Mantese Armin Schnider Melanie Swan
Founder
Raymond McCauley DIYgenomics
+1-650-681-9482
@DIYgenomics
www.DIYgenomics.org
Creative Commons 3.0 license Slides: http://slideshare.net/LaBlogga m@melanieswan.com