There are numerous participatory health initiatives underway ranging from light-touch to heavy engagement including social media, mobile health applications, personal health records, consumer genomics, health social networks, and crowdsourced health studies. Crowdsourced health studies are emerging as an important new investigatory tool in a multi-tier research ecosystem that includes quantified self-experimentation, participant-organized studies, and traditional researcher-led clinical trials. Accessing crowdsourced cohorts for health studies is a significant emerging opportunity that could have a positive impact on public health research, particularly as outcomes are shifting to the personalized, preventive medicine of the future.

1. Health Futures:
Participatory Medicine and
Crowdsourced Research Studies
Melanie Swan
Founder
DIYgenomics
Media X 2012 Seminar +1-650-681-9482
@DIYgenomics
May 16, 2012, Stanford CA
www.DIYgenomics.org
Slides: http://slideshare.net/LaBlogga m@melanieswan.com

2. About Melanie Swan
 Founder: DIYgenomics
 Current projects: MelanieSwan.com
 Education: MBA Finance, Wharton; BA
French/Economics, Georgetown University
 Work experience: Fidelity, JP Morgan, iPass,
RHK/Ovum, Arthur Andersen
 Singularity University Instructor, IEET
Affiliate Scholar, 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., 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. 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.
May 16, 2012 Source: http://melanieswan.com/publications.htm
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DIYgenomics.org

3. Participatory health summary
 The right public health solution at the right time
Image credit: http://sciencephoto.com
 Biology is the transistor of the 21st century
 Proliferation of involvement in participatory medicine
 Light engagement: social media
 Heavy engagement: crowdsourced health research studies
 Participatory health is integral to realizing the
personalized, preventive medicine of the future
May 16, 2012
3
DIYgenomics.org

4. Top 10 list of participatory health initiatives
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+
May 16, 2012
4
DIYgenomics.org

5. Agenda
 Introduction: context for participatory health
 Participatory health initiatives
 Social media, smartphone health apps, PHRs
 Personalized genomics
 Crowdsourced studies
 Health 2050: next-generation participatory
health and preventive medicine
Image credit: Natasha Vita-More, Primo Posthuman
May 16, 2012
5
DIYgenomics.org

6. Information transmission eras
Analog Digital Life code ?
17,300 years ago 1455&1950-2000 2000-2100 2100+
Painting, scrolls Press, Transistor DNA ?
May 16, 2012
6
DIYgenomics.org

7. Information processing eras
Enumeration Biomimicry Big data ?
1950s 1990s+ 2000s+ 2100+
Expert syst, CYC NLP, HTM, NCC Google, Watson ?
May 16, 2012
7
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8. Big data: personal health informatics
DNA:
SNP mutations RNA expression
profiling
Health 2.0: Proteomics
DNA: Structural Personal health
variation informatics
Epigenetics Microbiomics
Metabolomics
May 16, 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. 8
DIYgenomics.org

9. 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
May 16, 2012 “Individuals are computing nodes processing health information”
9
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10. Rising worldwide health care costs
May 16, 2012 Source: http://www.kff.org/insurance/snapshot/OECD042111.cfm
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11. Woeful state of global public health systems
 Rising health care costs
 Populations: aging and less-healthy
CDC: US 34% obese today, 42% by 20301
Image credit: http://www.boomertownsquare.com
 Anticipated physician shortages
 Cost per new drug: $1.5 billion
New drug applications: 23 in 2011 vs. 45 in 1996
 Upcoming period of care rationing?
May 16, 2012
1
Source: http://today.msnbc.msn.com/id/47337275/
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12. Agenda
 Introduction: context for participatory health
 Participatory health initiatives
 Social media, smartphone health apps, PHRs
 Personalized genomics
 Crowdsourced studies
 Health 2050: next-generation participatory
health and preventive medicine
Image credit: Natasha Vita-More, Primo Posthuman
May 16, 2012
12
DIYgenomics.org

13. Participatory health definition
 Health 2.0, Medicine 2.0, eHealth, participatory
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
May 16, 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 13
DIYgenomics.org 2

14. Participatory health activities
(Light) Level of Engagement (Heavy)
Social Mobile PHRs Consumer Health social networks
media health apps (personal genomics and crowdsourced
health health studies
records)
Image credit: Getty Images
May 16, 2012
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15. Health 2.0 social media
 Web 2.0 in the health context
 Blogs, twitter, facebook, wikis,
search, google+, video
Image credit: http://www.xojane.com
May 16, 2012
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16. 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
May 16, 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 16
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17. 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.
May 16, 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. 17
DIYgenomics.org
4
Boulos MN. How smartphones are changing the face of mobile and participatory healthcare. Biomed Eng Online. 2011.

18. PHRs (personal health records)
 Patient-administered medical records
Image credit: http://mymedsphr.com
 PHR use is growing (Deloitte)
 11% PHR use in 2011, +3% from 2008
 Aetna 1.5 million users (Sep 2011) Image credit: http://www.mobihealthnews.com
 Improved health outcomes
 PHR users 68% better at following up on recommended
care
 Empowers health self-management, more active role
May 16, 2012
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19. 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
May 16, 2012 personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525. 19
DIYgenomics.org

20. Agenda
 Introduction: context for participatory health
 Participatory health initiatives
 Social media, smartphone health apps, PHRs
 Personalized genomics
 Crowdsourced studies
 Health 2050: next-generation participatory
health and preventive medicine
Image credit: Natasha Vita-More, Primo Posthuman
May 16, 2012
20
DIYgenomics.org

21. 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
May 16, 2012
DIYgenomics.org

22. 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
May 16, 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 22
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23. Direct-to-consumer genomics: 23andMe
1,000,000 SNPs scanned and mapped to 237 conditions
May 16, 2012 Source: http://www.23andme.com; open source genomes http://www.snpedia.com/index.php/Genomes
23
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24. 23andMe colorectal cancer marker
May 16, 2012 Source: http://www.23andme.com
24
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25. 23andMe colorectal cancer marker
May 16, 2012 Source: http://www.23andme.com
25
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26. Pathway Genomics drug response
May 16, 2012 Source: http://www.pathway.com
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27. Consumer genomics comparison scorecard
 Which service to buy?
Consumer # Cost Report Data Visible Updates
genomic service Cond- access research
itions quality1
49 $2,000 +  + 
237 $99    +
40 $999
*  
71 $299
* 
15 public
study
n/a public
study
*Physician prescription required
May 16, 2012
1
Conditions, genes, variants, underlying research references, and methodology white paper(s) available on public website
DIYgenomics.org

28. 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”
4,000+ downloads
 iPhone
“genomics”
1,000+ downloads
May 16, 2012 Android development: Michael Kolb, Lawrence S. Wong, Laura Klemme, Melanie Swan
iOS development: Ted Odet, Greg Smith, Laura Klemme, Melanie Swan 28
DIYgenomics.org

29. 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
May 16, 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. 29

30. Finding your BDNF data, variant rs6265
 Consumer genomic
services genotype 1
million variants but only
map a few up to the
annotation browser
May 16, 2012
DIYgenomics.org 30

31. Athletic performance
May 16, 2012 Source: http://www.genome.duke.edu/education/seminars/journal-club/documents/Assael_2009.pdf
31
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32. Personal microbiomics
Skin microbiome ecosystem distribution My.microbes.eu gut enterotype analysis
Image credits: my.microbes.eu
 Disease risk, drug response, and
nutrient generation
 Enterotype affiliation and nutrients1
1. Bacteroides (biotin synthesis)
2. Prevotella (thiamine synthesis)
Image credit: Grice EA et al, Nat Rev Microbiol, 2011, Figure 3 3. Ruminococcus (folate synthesis)
May 16, 2012
1
Source: Arumugam M et al. Enterotypes of the human gut microbiome. Nature. 2011 May 12;473(7346):174-80.
32
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33. Agenda
 Introduction: context for participatory health
 Participatory health initiatives
 Social media, smartphone health apps, PHRs
 Personalized genomics
 Crowdsourced studies
 Health 2050: next-generation participatory
health and preventive medicine
Image credit: Natasha Vita-More, Primo Posthuman
May 16, 2012
33
DIYgenomics.org

34. 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
Image credit: http://www.noupe.com
May 16, 2012 Source: 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. 34
DIYgenomics.org

35. Researcher-organized crowdsourced studies
 PatientsLikeMe studies (~50 papers, 150,000 community
members, 1000 conditions)
 ALS (amyotrophic lateral sclerosis); patient-run lithium
study
 Pharmaceutical-related studies: off-label use,
adherence quantification, patient sentiment
 User experience in health social networks
 23andMe genome association studies (~10 papers,
>100,000 community members)
 Technique: replication and novel discovery
 Large-scale (3,426 cases/29,624 controls) Parkinson’s
study; phenotype-genotype linkage (20,000 responses)
 Non-disease condition (trait) associations (hair color,
freckling, smell detection, and sneeze reflex)
May 16, 2012 Source: 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. 35
DIYgenomics.org

36. 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
May 16, 2012 Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
36
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37. May 2012: 600+ community members,
Genomera 25 studies with 10-65 enrollees
Site access through
‘eBay of health studies’ www.DIYgenomics.org
May 16, 2012
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38. 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 + Phenotype + Intervention = Outcome
May 16, 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. 38
DIYgenomics.org

39. DIYgenomics participant-organized studies
 7 studies in open enrollment (vitamin deficiency, aging, and
mental performance)
May 16, 2012 Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
39
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40. Results from DIYgenomics Vitamin B pilot
DIYgenomics MTHFR Vitamin B deficiency study1
1. Genotype profiles
umol/l 2. Homocysteine levels
Blood Test #
Baseline Centrum LMF C + LMF Baseline
1
Source: Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for crowdsourced
May 16, 2012 preventive medicine research. J Participat Med. 2010 Dec 23; 2:e20. 40
DIYgenomics.org Results are not statistically significant and intended as a pilot demonstration

41. New DIYgenomics studies
Diabetes Social Intelligence Genomics and
Quantified-Self Genomics and Caffeine Sleep
Tracking Study Empathy Study Study
Investigate diabetes Determine if there is a Investigate a potential
prevention in healthy link between genetics genetic link with sleep
individuals with and altruism, empathy, quality in healthy
glucometer tracking, SNP and optimism, including individuals and caffeine
review, hemoglobin, and with the use of a SIRI consumption, using the
cholesterol blood tests 2.0 personal virtual myZEO tracker and
coach intervention personalized
interventions
May 16, 2012 Source: DIYgenomics
41
DIYgenomics.org

42. Agenda
 Introduction: context for participatory health
 Participatory health initiatives
 Social media, smartphone health apps, PHRs
 Personalized genomics
 Crowdsourced studies
 Health 2050: next-generation participatory
health and preventive medicine
 Practical
 Philosophical
Image credit: Natasha Vita-More, Primo Posthuman
May 16, 2012
42
DIYgenomics.org

43. 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
May 16, 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. 43
DIYgenomics.org

44. New health frontier: mental performance
optimization
Mood Management Apps from Mobilyze and M. Morris ‘Siri 2.0’ Personal Virtual Coach from
PTSD App DIYgenomics
Source:
http://www.ptsd.va.gov/public/pages/
ptsdcoach.asp
Sources: http://cbits.northwestern.edu and Source: DIYgenomics Social Intelligence Study
http://quantifiedself.com/2009/03/a-few-weeks-ago-i http://diygenomics.pbworks.com/w/page/48946791/social_intelligence
May 16, 2012
44
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45. Professionalizing participatory health:
innovating the research model
Traditional Research Model Participatory Research Model
CRO 2.0 (contract research organization
Institutional IRBs, FAQs,
Review Board Citizen ethicists
(IRB)
Patient
Institutional PI advocacy
Grant Journal Self
(principal groups Citizen scientists
funding publication publishing
investigator)
Research Investigators =
foundations Participants
Research Social VC
subjects
Crowd-
sourcing
May 16, 2012 Source: Swan, M. Scaling crowdsourced health studies: the emergence of a new form of contract research
organization. Personalized Medicine 2012, Mar;9(2):223-234. 45
DIYgenomics.org

46. More consumer assays are needed
 Low-cost home-administered self-read tests:
§ Blood/saliva/urine tests 2.0 (Cholesterol, Vitamins A-E, Folate,
Creatinine, eGFR, Cortisol, Calcium, Iron; Hormones Estrogen, Progesterone,
Testosterone, Estradiol; Immune system: CD4, CD8/CD28 ratio, IL-1, IL-6)
§ Daily microbiome profiling assay (skin, oral cavity, gut)
§ Consumer epigenetic test
§ Consumer RNA expression test
Cholestech LDX OrSense continuous non-invasive ZRT Labs dried
home cholesterol test glucose monitoring blood spot tests
May 16, 2012 Source: http://futurememes.blogspot.com/2011/10/blood-tests-20-advances-with-dried.html
46
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47. Philosophically expanded concept of health
A new model of health and
health care
May 16, 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. 47
DIYgenomics.org

48. 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
May 16, 2012 Source: Swan, M. Biotechnicity 2.0: Computation-enabled Philosophical Advance in the Epistemology of Human Biology and the
Ontology of Bioidentity. May 2012. Conference presentation: Symposium on Computational Philosophy, AISB/IACAP World Congress 48
DIYgenomics.org (in Honor of Alan Turing, 1912-1954), July 2-6, 2012, University of Birmingham, Birmingham, UK.

49. Professionalizing participatory 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
May 16, 2012 Source: Swan, M. Biotechnicity 2.0: Computation-enabled Philosophical Advance in the Epistemology of Human Biology and the
Ontology of Bioidentity. May 2012. Conference presentation: Symposium on Computational Philosophy, AISB/IACAP World Congress 49
DIYgenomics.org (in Honor of Alan Turing, 1912-1954), July 2-6, 2012, University of Birmingham, Birmingham, UK.

50. Top 10 list of participatory health initiatives
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+
May 16, 2012
50
DIYgenomics.org

51. Image credit: http://www.sldesigns.com
But wait…
Potential drawbacks of 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
May 16, 2012
51
DIYgenomics.org

52. Participatory health summary
 The right public health solution at the right time
Image credit: http://sciencephoto.com
 Biology is the transistor of the 21st century
 Proliferation of involvement in participatory medicine
 Light engagement: social media
 Heavy engagement: crowdsourced health research studies
 Participatory health is integral to realizing the
personalized, preventive medicine of the future
May 16, 2012
52
DIYgenomics.org

53. 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

54. Study design template: Vitamin B deficiency
Cyanocobalamin
Image credit: http://wikimedia.org
May 16, 2012 Source: http://diygenomics.pbworks.com
http://diygenomics.pbworks.com/w/file/36469280/DIYgenomics+study+design+template+blank.doc 54
DIYgenomics.org

55. 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
May 16, 2012 Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
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56. DIYgenomics Retin-A skin cream study
 Genetic profiling can predict Retin-A side-effects?
May 16, 2012 Source: http://genomera.com/studies/retin-a-wonder-cream-for-acne-and-wrinkles-is-there-a-genomic-link
56
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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)
May 16, 2012 Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
57
DIYgenomics.org

58. Quantified self study examples
 Data visualization: one year of food
consumption1
 Butter Mind study2
 Improved arithmetic speed for 45
randomized individuals eating 2 ounces
(56.7 grams) of butter per day
 Health and mental performance3
 Reduced early awakening by avoiding
breakfast and spending more time during Images credit: Lauren Manning
the day standing
 Improved mood by seeing faces
 Lost weight by drinking sugar water
Image credit: Quantified Self
1
Source: http://flowingdata.com/2011/06/29/a-year-of-food-consumption-visualized
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Source: http://quantifiedself.com/2011/01/results-of-the-buttermind-experiment 58
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Source: Roberts S. The unreasonable effectiveness of my self-experimentation. Med Hypotheses. 2010 Dec;75(6):482-9.

59. 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
May 16, 2012
1
Source: http://cofactorbio.com/education
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60. Biotechnicity and computational philosophy
Metaphysical shift: new ways of being
•Meaning: What do the new definitions of health mean?
•Identity: 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 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
May 16, 2012 Source: Swan, M. Biotechnicity 2.0: Computation-enabled Philosophical Advance in the Epistemology of Human Biology and the
Ontology of Bioidentity. 2012. Submitted. 60
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61. 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
May 16, 2012 Source: DIYgenomics
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