Future of Health: Overview of Participant-driven Research and Medicine

1
Future of Health Overview of
Participant-driven Research and Medicine
Melanie Swan FounderDIYgenomics1-415-505-4
426_at_DIYgenomics www.DIYgenomics.org
m_at_melanieswan.com
37th health seminar "Patient-driven research and
medicine" November 10, 2011, Lausanne
Switzerland 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. Meeting Report American Aging
  Association 40(th) Annual Meeting, Raleigh, North
  Carolina, June 3-6, 2011. Rejuvenation Res. 2011,
  Aug14(4)449-55.
• Swan, M., Hathaway, K., Hogg, C., McCauley, R.,
  Vollrath, A. Citizen science genomics as a model
  for crowdsourced preventive medicine research. J
  Participat Med. 2010, Dec 23 2e20.
• Swan, M. Multigenic Condition Risk Assessment in
  Direct-to-Consumer Genomic Services. Genet. Med.
  2010, May12(5)279-88.
• Swan, M. Translational antiaging research.
  Rejuvenation Res. 2010, Feb13(1)115-7.
• Swan, M. Engineering Life into Technology the
  Application of Complexity Theory to a Potential
  Phase Transition of Intelligence. Symmetry 2010,
  2, 150183.
• 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.

Source http//melanieswan.com/publications.htm
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Top 10 list of participative health initiatives
Automated self-tracking devices
Microbiomics
Personal health records
Image credit http//www.dreamstime.com
Crowdsourced health studies
Social media
Blood tests 2.0
Smartphone health apps
Health advisor
Whole human genome sequencing
Health social networks
Personalized genomics
2020
2010
2015
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4
Agenda

• Introduction context for participative health
• Participant-driven health initiatives
• Social media, smartphone health apps, PHRs
• Personalized genomics
• Crowdsourced studies
• Next-generation participative health
• Future medicine conclusion

Image credit Natasha Vita-More, Primo Posthuman
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5
Information transmission eras
Analog
Digital
Life code
?
2100
2000-2100
14551950-2000
17,300 years ago
Painting, scrolls
Press, Transistor
DNA
?
6
Biology is an information technology
DNA sequencing 10x/yr improvement
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Biology is the information technology
Algal biofuel
Organ regeneration (urethra)
Image credit Anthony Atala lab
Image credit http//www.rexresearch.com
Artificial cell booted to life
Whole organ decellularization and
recellularization (heart)
DNA nanotechnology latch box for drug delivery
Image credit J. Craig Venter Institute
Image credit Thomas Matthiesen
Image credit Aarhus University
8
Rising worldwide health care costs
Source http//www.kff.org/insurance/snapshot/OECD
042111.cfm
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Woeful state of global public health systems

• Rising health care costs
• Aging populations worldwide
• Anticipated physician shortages
• Cost per new drug 1.5 billion
• New drug apps 23 in 2011 vs. 45 in 1996
• Biotechnology investment reticence1
• Upcoming period of care rationing?

Image credit http//www.boomertownsquare.com
1Source http//www.innovationnewsdaily.com/medica
l-innovation-pharmaceutical-drugs-2090
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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 organizations1
1http//scienceforcitizens.net/finder
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Citizen science health why now?

• Tools
• Plummeting cost of genome sequencing
• Availability of consumer blood tests
• Online bioinformatics tools
• Education and support
• Local DIYbio labs, online forums

Image credits http//www.biocurious.org
Image credit http//diybionyc.blogspot.com
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Agenda

• Introduction context for participative health
• Participant-driven health initiatives
• Social media, smartphone health apps, PHRs
• Personalized genomics
• Crowdsourced studies
• Next-generation participative health
• Future medicine conclusion

Image credit Natasha Vita-More, Primo Posthuman
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Participative health definition

• Health 2.0, Medicine 2.0, eHealth, participative
  health (2008)
• Use of a specific set of Web 2.0 tools (blogs,
  Podcasts, tagging, search, wikis, health social
  networks, etc.) by actors in health care
  including doctors, patients, and scientists,
  using principles ofin 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 partners2

1Source http//en.wikipedia.org/wiki/Medicine_2.0
cite_note-jmir.org-3 2Source http//e-patients.n
et/archives/2010/04/a-patient-centric-definition-o
f-participatory-medicine.html
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Participative health activities
(Light) Level of Engagement (Heavy) (Light) Level of Engagement (Heavy) (Light) Level of Engagement (Heavy) (Light) Level of Engagement (Heavy) (Light) Level of Engagement (Heavy)
Social media Mobile health apps PHRs (personal health records) Consumer genomics Health social networks and crowd-sourced health studies
Image credit Getty Images
15
Health 2.0 social media

• Web 2.0 in the health context
• Blogs, twitter, facebook, wikis,
  search, google, video

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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
  concerns1
• 67 of Europeans trust social media information2
• European physician response to social media
• 30 physicians are members of social networks2
• 2/3 interested in joining social networks2
• 41 believe social media will play an
  increasingly important role in shaping their
  patient management and treatment3

Image credit http//ramialsindi.wordpress.com
1Source http//www.pewinternet.org/Reports/2011/S
ocial-Life-of-Health-Info.aspx 2Source
http//www.mmm-online.com/europe-edges-us-in-socia
l-media-for-health-info-says-study/article/166461/
3Source http//www.worldofhealthit.org/sessionh
andouts/documents/PS34-1-DeniseSilber.pdf
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Social media health tech Physician consultation
and review
Image credit http//www.americanwell.com
Image credit http//www.3gdoctor.com
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Smartphone as personal doctor

• Mobile is the platform
• 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

1Kang C. Number of cell phones exceeds US
population. Washington Post. October 11,
2011. 2Dufau 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.
4Boulos MN. How smartphones are changing the
face of mobile and participatory healthcare.
Biomed Eng Online. 2011.
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Smartphone health apps

• Consumer uses
• Education, information, and self-tracking
• Physician uses
• Access patient information, contact colleagues,
  information look-up (billing codes, drug
  formularies, reference material)
• Health app focal areas
• Nutrition, exercise, diabetes, obesity
• Mental health and behavioral change
• Scaled up research projects
• Thousands recruited in months1

Image credit http//www.mobihealthnews.com
Image credit tehgaygeek.blogspot.com
1Dufau S. Smart phone, smart science how the use
of smartphones can revolutionize research in
cognitive science. PLoS One. 2011.
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PHRs (personal health records)

• Patient-administered medical records
• Traditional blood type, family history, Rx data
• Health 2.0 genome profiles, self-tracking data
• Link with traditional medicine
• Cost savings, real-time information access, error
  reduction, improved communication for individuals
  health systems
• PHR use is growing
• 11 PHR use in 2011, 3 from 2008 (Deloitte)
• Aetna 1.5 million users (Sep 2011)
• Improved health outcomes
• PHR users 68 better at following up on
  recommended care
• Empowers health self-management, more active role
  

Image credit http//mymedsphr.com
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Health social networks
Image credit http//glennamoe.com

• Definition
• Online health interest communities where members
  may
• share demographic and condition-related
  information
• track treatments, symptoms, and outcomes
• find other similar patients for condition
  benchmarking
• join collaborative health studies
• Physician-focused
• Sermo (global), BlogFMC (France), Good Doctors
  Forum (China), DoctorsNet (UK)
• Consumer/patient-focused

22
Health social networks and collaboration
Health social networks
Health collaboration communities
(global local)
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.
23
Global perspective culture matters

• US early adopter
• UK public health initiatives
• Europe
• Regulation, DIY culture, informed,
  initiative-taking
• France (early-adopter, self-responsibility
  taking)1, Germany (environment, light footprint,
  institutional mistrust), Denmark (self-tinkering,
  self-informed), Italy/Spain (institutional
  context)
• Middle East / South Korea / Singapore
• Rapid early adopters, financial resources,
  less-democratic political regimes
• Latin America / Asia / Africa (BRIC)
• Straight to health 2.0/genomic medicine regional
  leaders in key industries (e.g. genomic
  sequencing and interpretation)

Image credit http//www.worldofstock.com
1French National Reference Center for Health Care
and Autonomy
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Agenda

• Introduction context for participative health
• Participant-driven health initiatives
• Social media, smartphone health apps, PHRs
• Personalized genomics
• Crowdsourced studies
• Next-generation participative health
• Future medicine conclusion

Image credit Natasha Vita-More, Primo Posthuman
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Personalized genomics definition

• Using genetic sequencing profiles of individuals
  in health and wellness decisions
• Consumer cost 99
• International availability, 100,000 subscribers

Image credit http//123RF.com
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Numerous useful applications of genomics

• Established
• Ancestry
• Carrier status
• Identity (paternity, forensics)
• Maturing
• Health condition risk1
• Pharmaceutical response2
• Novel
• Athletic performance capability
• OTC product response
• Environment/toxin processing
• Farther future
• Predictive wellness profiling aging, cancer,
  immune response

Image credit http//bit.ly/fovpJc
1Source Swan M. Multigenic condition risk
assessment in direct-to-consumer genomic
services. Genet Med. 2010 May12(5)279-88. 2Sourc
e http//www.fda.gov/Drugs/ScienceResearch/Resear
chAreas/Pharmacogenetics/ucm083378.htm
27
Direct-to-consumer genomics 23andMe
Source http//www.23andme.com open source
genomes http//www.snpedia.com/index.php/Genomes
28
23andMe colorectal cancer marker
Source http//www.23andme.com
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23andMe colorectal cancer marker
Source http//www.23andme.com
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Pathway Genomics drug response
Source http//www.pathway.com
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Consumer genomics comparison scorecard

• Which service to buy?

Consumer genomic service Cond-itions Cost Report Data access Visible research quality1 Updates
deCODEme 49 2,000 ? ? ? ?
23andme 214 99 ? ? ? ?
Navigenics 40 999 ? ?
Pathway Genomics 71 299 ?
Coriell (10,000 partic. 7/11) 15 public study
PGP (Personal Genome Project) n/a public study
Physician prescription required
1Conditions, genes, variants, underlying research
references, and methodology white paper(s)
available on public website
32
Open-source mobile apps (5,000 downloads)

• Health condition, drug response, athletic
  performance capability
• Private 23andMe data upload
• Android
• iPhone

genomics 4,000 downloads
genomics 1,000 downloads
Android development Michael Kolb, Lawrence S.
Wong, Laura Klemme, Melanie Swan iOS development
Ted Odet, Greg Smith, Laura Klemme, Melanie Swan
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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

1Source http//cofactorbio.com/education
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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

• Source http//www.wired.com/wiredscience/2009/10/
  genetically-bad-driving
• 1Ribeiro, L. et. Al., The brain-derived
  neurotrophic factor rs6265 (Val66Met)
  polymorphism and depression in Mexican-Americans.
  Cellular, Molecular and Developmental
  Neuroscience. May 8, 2007.

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Finding your BDNF data, variant rs6265

• Consumer genomic services genotype 1 million
  variants but only map a few up to the annotation
  browser

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Athletic performance
Source http//www.genome.duke.edu/education/semin
ars/journal-club/documents/Assael_2009.pdf
37
Athletic performance
Image credit http//www.istockphoto.com
Category Genes V S
Endurance, power, and energy Endurance, power, and energy Endurance, power, and energy Endurance, power, and energy Endurance, power, and energy
Endurance ACE, ACTN3, ADRB2/ ADRB3, BDKRB2, COL5A1, GNB3 7 50 22
Power ACE, ACTN3, AGT 3 50 8
Energy HIF1A, PPARGC1A 3 25 9
Musculature, and heart and lung capacity Musculature, and heart and lung capacity Musculature, and heart and lung capacity Musculature, and heart and lung capacity Musculature, and heart and lung capacity
Muscle fatigue and repair HNF4A, NAT2 and IL-1B 5 40 4
Strength HFE, HIF1A, IGF1, MSTN GDF8 5 17 15
Heart and lung capacity CREB1, KIF5B, NOS3, NPY and ADRB1, APOE, NRF1 9 36 11
Metabolism, recovery, and other  Metabolism, recovery, and other  Metabolism, recovery, and other  Metabolism, recovery, and other  Metabolism, recovery, and other 
Metabolism AMPD1, APOA1, PPARA, PPARD 5 50 9
Recovery CKMM/CKM, IL6 2 50 5
Ligament and tendon strength  Ligament and tendon strength  Ligament and tendon strength  Ligament and tendon strength  Ligament and tendon strength 
Ligament strength COL1A1, COL5A1, CILP 3 50 4
Tendon strength COL1A1, COL5A1, GDF5, MMP3 7 63 5
V number of variants ratio of favorable
polymorphisms to total alleles for a sample
individual S number of studies
Source Swan, M. Applied genomics personalized
interpretation of athletic performance GWAS. 2011
. Submitted.
38
Lung cancer risk and drug response

• Risk and drug response for specific cancers

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.
39
Predictive wellness profiling cancer
Image credit http//utmb.edu

• Proto-oncogene/tumor suppressor gene polymorphisms

TP53 cell cycle arrest, PTEN cell cycle
progression modulator, MYC cell cycle regulator
Source DIYgenomics
40
Wellness profiling immune system

• Immune system genomic wellness profiling
• Immune response T-cell activation
• CTLA4, CD226, CD86, IL3

Image credit http//www.iayork.com
CTLA4 T-cell inhibition IL3 growth-promoting
cytokine
Source DIYgenomics
41
Product and environment genomic profiling

• OTC product response, efficacy, and side effects
• Skin (anti-wrinkle,1 antioxidant, anti-itching
  creams, personalized mosquito repellent)
• Hair (hair loss treatments)
• Esophagus (reflux, bile acid response treatments)
• Teeth (periodontitis remedies)
• Sleep (insomnia treatments)
• Environmental exposure toxin processing
• Benzene
• Quinone oxidoreductase
• PAHs metabolism
• Arylarene metabolism
• Mercury and lead exposure
• Liver and kidney health (general)

Source DIYgenomics 1 PG, Kaczvinsky JR et al,
Skin Therapy Lett, 2011
42
Microbiomics
Skin microbiome ecosystem distribution

• 10x human cells (2 kg, 4C), 150x genetic
  repertoire
• 15-20 body sites
• Skin, eyes, mouth, nose, lungs, GI tract,
  genitals
• Activities ferment food, produce vitamins,
  prevent pathogen growth
• Influences disease, drug response, nutrient
  pathways
• Compositional and functional analysis

Image credit Grice EA et al, Nat Rev Microbiol,
2011, Figure 3
43
GI microbiome project my.microbes.eu

• EMBL Heidelberg, 1451
• Enterotype affiliation1
• Bacteroides (biotin synthesis)
• Prevotella (thiamine synthesis)
• Ruminococcus (folate synthesis)
• Novel promicrobial and antimicrobial treatments
• Stimulatory
• Inhibitory

Science for everyone
Enterotype affiliation analysis
Image credits my.microbes.eu
1Source Arumugam M et al. Enterotypes of the
human gut microbiome. Nature. 2011 May
12473(7346)174-80.
44
Genome politics and regulation

• Our world is not Gattaca
• Issues human cloning, sex selection, genetic
  privacy, non-discrimination
• UN Convention on Human Rights and Biomedicine
  1997 (Ch IV Human Genome)
• U.S. Genetic Information Nondiscrimination Act
  (GINA) 2008
• Biocitizenry, health as a basic human right

Image credit http//www.sonypictures.com
Image credit http//sciencephoto.com
45
Direct-to-consumer genomics trade-offs
Drawbacks Advantages
Unregulated Usefulness of information Unclear correlation Polygenic disease Lack of therapies Results interpretation Genetic counseling False positives, false negatives Insurance and employment discrimination Fact-based information Improved consumer experience Consumer-owned data Self-empowerment Low-cost availability Impact on healthcare Increased health literacy Consumer more active, better outcomes Destigmatization
46
Agenda

• Introduction context for participative health
• Participant-driven health initiatives
• Social media, smartphone health apps, PHRs
• Personalized genomics
• Crowdsourced studies
• Next-generation participative health
• Future medicine conclusion

Image credit Natasha Vita-More, Primo Posthuman
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Crowdsourced health studies
DIYgenomics MTHFR Vitamin B deficiency study1

• 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

1. Genotype profiles
2. Homocysteine levels
umol/l
Blood Test
C LMF
Baseline
LMF
Baseline
Centrum
1Source 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
2e20. Results are not statistically significant
and intended as a pilot demonstration
48
PatientsLikeMe studies

• Patient-organized ALS lithium study
• 2008 348 initial patients, 149 (2 mos), 78 (12
  mos)
• No effect found patient self-experimentation,
  observational study (149 cases/447 controls)
  traditional randomized studies
• ALS (amyotrophic lateral sclerosis)
• Handedness connection between limb physical
  activity and disease onset in arms but not legs
• Additional items for condition sensitivity
  measurement scale (motor skills, emotion,
  mobility)
• Low participation in ALS studies due to lack of
  invitation, enrollment cost concerns confusion
• Comparative research pathological gambling
  tendencies (ALS 3, Parkinsons disease 13)

Source Swan, M. Review of Crowdsourced Health
Research Studies. 2011. Submitted.
49
PatientsLikeMe drug-related studies

• Off-label use for amitriptyline (depression) and
  modafinil (wakefullness-promoting narcolepsy
  and sleep apnea)
• 40 ALS amitriptyline users unwanted excess
  saliva reduced
• 36 MS and PD modafinil users reported decreased
  fatigue
•  Quantifying medication adherence
• 36 participation rate from MS community
• 16-51 (by treatment) missed one dose in the last
  28 days
• Patient sentiment per PLM forum discussion
• Positive outlook for MS drug Tysabri
  (natalizumab) despite being linked to 3 cases of
  progressive multifocal leukoencephalopathy (PML)
  in 2008

Image credit http//wdfyfe.wordpress.com
Source Swan, M. Review of Crowdsourced Health
Research Studies. 2011. Submitted.
50
PatientsLikeMe user experience

• Health social network participation (19
  response)
• Positive reaction, comfort in sharing health data
• Uses learn about symptoms, understand treatments
  and side effects, make decisions about treatments
  
• Peer benefits of condition benchmarking relative
  to others
• Next steps for improving health social networks
• Interpreting unstructured information, managing
  churning community populations, self-reported
  data challenges
• Examine health social network participation and
  link to real-world outcomes
• Identify and create new tools to further empower
  health self-management, for example to facilitate
  patient-organized studies

Source Swan, M. Review of Crowdsourced Health
Research Studies. 2011. Submitted.
51
23andMe genome association studies

• One of largest Parkinsons disease (3,426
  cases/29,624 controls) studies
• Replication of 20 previous genetic associations
• Discover of two new ones (rs6812193 and
  rs11868035)
• 20,000 responses on 50 medical phenotypes
• 180 previously reported associations for type 2
  diabetes, prostate cancer, cholesterol levels,
  and multiple sclerosis only 75 of expected
  associations
• Non-disease condition (trait) associations
• Replication hair color, eye color, and freckling
• Novel associations morphology, freckling, smell
  detection, and sneeze reflex

Source Swan, M. Review of Crowdsourced Health
Research Studies. 2011. Submitted.
52
Quantified self

• Goal personalized knowledge through quantified
  self-tracking
• Format monthly show n tell meetups
• Outcome optimality and improvement
• Example personalized interventions for
  depression, low energy, sleep quality

Image credit http//www.nationalpost.com
Image credit Quantified Self
Source Swan, M. Review of Crowdsourced Health
Research Studies. 2011. Submitted.
53
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 the day standing
• Improved mood by seeing faces
• Lost weight by drinking sugar water

Images credit Lauren Manning
Image credit Quantified Self
1Source http//flowingdata.com/2011/06/29/a-year-
of-food-consumption-visualized 2Source
http//quantifiedself.com/2011/01/results-of-the-b
uttermind-experiment 3Source Roberts S. The
unreasonable effectiveness of my
self-experimentation. Med Hypotheses. 2010
Dec75(6)482-9.
54
GenomeraeBay of health studies
Nov 2011 300 community members, 20 studies with
10-65 enrollees Site access through
www.DIYgenomics.org
55
DIYgenomics

• Goal preventive medicine
• Realize preventive medicine by establishing
  baseline markers of wellness and pre-clinical
  interventions
• Generalized hypothesis
• One or more polymorphisms may result in
  out-of-bounds baseline levels of phenotypic
  markers. These levels may be improved through
  personalized intervention.

Source Swan, M., Hathaway, K., Hogg, C.,
McCauley, R., Vollrath, A. Citizen science
genomics as a model for crowdsourced preventive
medicine research. J Participat Med. 2010, Dec
23 2e20.
56
DIYgenomics participant-organized studies

• 6 studies in open enrollment (vitamin deficiency,
  aging, and mental performance) 5 in design
  (oncology, calcinosis)

Source Swan, M. Review of Crowdsourced Health
Research Studies. 2011. Submitted.
57
DIYgenomics memory study
Image credit http//bit.ly/g2DIcW

• Goal 100 member cohort
• Genotype COMT, DRD2, SLC6A3 (5 SNPs)
  (neurotransmitter modulation)
• Phenotype memory test (20-25 minutes)
• Background questionnaire

Source http//genomera.com/studies/aging-telomere
-length-and-telomerase-activation-therapy
58
DIYgenomics Retin-A skin cream study

• Genetic profiling can predict Retin-A
  side-effects?

Source http//genomera.com/studies/retin-a-wonder
-cream-for-acne-and-wrinkles-is-there-a-genomic-li
nk
59
DIYgenomics TA-65 aging study

• Telomerase genes, telomere length, and
  intervention
• Telomere-lengthening and immune system benefits
  (Harley CB et al, Rejuvenation Res, 2011, de
  Jesus BB et al, Aging Cell, 2011)

Source http//genomera.com/studies/aging-telomere
-length-and-telomerase-activation-therapy
60
Agenda

• Introduction context for participative health
• Participant-driven health initiatives
• Social media, smartphone health apps, PHRs
• Personalized genomics
• Crowdsourced studies
• Next-generation participative health
• Future medicine conclusion

Image credit Natasha Vita-More, Primo Posthuman
59
61
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
62
Engaging personal health collaborators

• Construct relevant value propositions to diverse
  target markets
• Make participation fun and easy
• Frame with nomenclature
• Enhancement, optimization, improvement

(Light) Participative Health Activities by Level of Engagement (Heavy) (Light) Participative Health Activities by Level of Engagement (Heavy) (Light) Participative Health Activities by Level of Engagement (Heavy) (Light) Participative Health Activities by Level of Engagement (Heavy) (Light) Participative Health Activities by Level of Engagement (Heavy)
Social media Mobile health apps PHRs (personal health records) Consumer genomics Health social networks and crowd-sourced health studies
63
Three participative health user groups

• Needs obtain information and take action
• The health decision maker

Layperson, health
Health optimizer
decision maker1
Health professional
Education, clearly digestible information,
service comparison, recommendations
Rapid information access, research references,
custom configurability, personal data upload,
search
Accessible technical information that can be
verified and turned into actions
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
64
Professionalizing participative health
innovating the research model
Traditional Research Model
Patient-organized Research Model
IRBs, FAQs, Citizen ethicists
Institutional Review Board (IRB)
Institutional PI (principal investigator)
Citizen scientists Investigators
Participants
Patient advocacy groups Research
foundations Social VC Crowd-sourcing
Grant funding
Journal publication
Self publishing
Research subjects
65
Professionalizing participative health the CRO1
2.0 ecosystem
1CRO 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.
66
Professionalizing participative health
Philosophical validation

• Towards an epistemology of citizen science
• Provide a structure and context for
  participant-derived health knowledge
• Q1 Are new kinds of knowledge are being formed
  through group collaborations such as wikipedia
  and health social networks?
• Q2 How to characterize the knowledge generated
  by traditional medicine, self-experimentation,
  and health collaboration communities?

Image credit http//inkingrey.com
67
Ontological shift

• Old thinking
• My health is the responsibility of my physician
• New thinking
• My health is my responsibility
• and I have the tools to make managing it easy

68
What else is needed? Blood Tests 2.0

• Low-cost home-administered self-read finger-stick
  blood, urine, saliva tests
• Traditional blood tests (Homocysteine, Vitamin
  B-12, Folate, Vitamin D, Creatinine, eGFR,
  Cortisol, Calcium, Iron)
• Hormones (Estrogen, Progesterone, Testosterone,
  Estradiol)
• Immune system CD4, CD8/CD28 ratio, IL-1, IL-6
• Chemical / heavy metal burden mercury, cadmium,
  lead, tin

OrSense continuous non-invasive glucose monitoring
Cholestech LDX home cholesterol test
ZRT Labs dried blood spot tests
Source http//futurememes.blogspot.com/2011/10/bl
ood-tests-20-advances-with-dried.html
69
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/f
  iles/budget.xls
• Recruitment and marketing
• Study flyers http//www.diygenomics.org/files/mul
  tistudy_flyer.doc, http//www.diygenomics.org/file
  s/TA65_flyer.doc, http//www.diygenomics.org/files
  /MTHFR_flyer.doc
• Conference poster http//www.diygenomics.org/files
  /DIYgenomics_poster.ppt
• Participant recruiting plan http//blog.genomera.c
  om/how-to-recruit-for-your-citizen-science-study

Slides http//slideshare.net/LaBlogga
70
Study design template Vitamin B deficiency
Cyanocobalamin
Image credit http//wikimedia.org
Source http//diygenomics.pbworks.com http//diyg
enomics.pbworks.com/w/file/36469280/DIYgenomicsst
udydesigntemplateblank.doc
71
Agenda

• Introduction context for participative health
• Participant-driven health initiatives
• Social media, smartphone health apps, PHRs
• Personalized genomics
• Crowdsourced studies
• Next-generation participative health
• Future medicine conclusion

Image credit Natasha Vita-More, Primo Posthuman
70
72
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 Health
social networks, crowdsourced studies, health
advisors, wellness coaches, preventive care
plans, boutique physicians, genetics coaches,
aestheticians, medical tourism
Individual
3. Public health system Deep expertise of
traditional health system for disease and trauma
treatment
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.
73
Health self-management
A new model of health and health care
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.
74
Top 10 list of participative health initiatives
Automated self-tracking devices
Microbiomics
Personal health records
Image credit http//www.dreamstime.com
Crowdsourced health studies
Social media
Blood tests 2.0
Smartphone health apps
Health advisor
Whole human genome sequencing
Health social networks
Personalized genomics
2020
2010
2015
73
75
But wait
Image credit http//www.sldesigns.com
Drawbacks of participative health
Health hobbyist niche, not mainstream Perceptions of health negative, deterministic Anemic participation in health collaboration communities Financial incentives required for self health monitoring Unclear how to incorporate into public health systems
76
Participative health summary

• The right solution at the right time
• Embedded in the public health ecosystem
• Biology infotech transistor of the 21st century
• Advances in participant-driven research and
  medicine
• Participative health is integral to realizing the
  personalized, preventive medicine of the future

Image credit http//sciencephoto.com
Social media Mobile health apps PHRs (personal health records) Consumer genomics Health social networks and crowd-sourced health studies
77
Merci!
Collaborators Lorenzo Albanello Janet
Chang Cindy Chen John Furber Hong Guo Kristina
Hathaway Laura Klemme Priya Kshirsagar Lucymarie
Mantese Raymond McCauley
Marat Nepomnyashy Ted Odet Roland Parnaso Thomas
Pickard William Reinhardt Greg Smith Aaron
Vollrath Lawrence S. Wong

• International collaborations
• JST and Rikengenesis
• Takashi Kido
• Minae Kawashima
• Jin Yamanaka
• University Hospitals of Geneva
• Louis Nahum
• Armin Schnider

Melanie SwanFounderDIYgenomics415-505-4426
_at_DIYgenomicswww.DIYgenomics.orgm_at_melanieswan.com
Slides http//slideshare.net/LaBlogga
Creative Commons 3.0 license
78
Stem cell therapies status of the field

• Uses cell-replacement therapies, and disease
  modeling, drug discovery, and drug toxicity
  screening
• Stem cell therapy applications in over 50
  diseases
• Heart, lung, neurodegenerative, eye disease,
  cancer, HIV (cure)
• Clinical use and clinical trials
• Dendreons Provenge prostate cancer, Geron spinal
  cord injury, Fibrocells laViv wrinkles, skin
  substitutes (Apligraf, Dermagraft)
• Stem cell policy issues
• Medical tourism, standards for large-scale stem
  cell manufacturing, and lingering embryonic stem
  cells use

Source Swan, M. Steady Advance of Stem Cell
Therapies. Rejuvenation Research. 2011.
Forthcoming.
Image credit http//stemcellresources.org
79
Stem cell therapies contemporary science

• Direct reprogramming of cells from one lineage to
  another without returning to pluripotency as an
  intermediary step
• Improved means of generating and characterizing
  induced pluripotent cells
• Progress in approaches to neurodegenerative
  disease

Source Swan, M. Steady Advance of Stem Cell
Therapies. Rejuvenation Research. 2011.
Forthcoming.
80
Nanomedicine

• Drug delivery
• Organ repair
• DNA nanotechnology
• Synthetic biology
• Nanomachines

Now
Nanoparticles
Farther future
DNA walker
Structural DNA Holliday junction
Quantum dot dyes
Respirocytes
Microbivore
Artery cleaner
Vasculocyte
Clottocytes
Source Swan, M. Top ten recent nanomedical
advances. Book chapter in Clinical Nanomedicine
from Bench to Bedside 2011, Forthcoming.
81
Era of 3rd and 4th-gen genome sequencing
3rd Gen Sequencing by Synthesis
1st Gen Sanger Sequencing
2nd Gen Parallelized sequencing
4th Gen Electronic Sequencing
Sources http//www.genomicseducation.ca/files/ima
ges/information_articles/sequencing.gif,
http//www.wellcome.ac.uk/News/2009/Features/WTX05
6032.htm, http//www.pacificbiosciences.com/video_
lg.html, http//www.nanoporetech.com/sequences