Transcript Document 7139313

Future of Health: Overview of
Participant-driven Research and Medicine
37th health seminar
"Patient-driven research and medicine"
November 10, 2011, Lausanne Switzerland
Slides: http://slideshare.net/LaBlogga
Melanie Swan
Founder
DIYgenomics
+1-415-505-4426
@DIYgenomics
www.DIYgenomics.org
[email protected]
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:
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Swan M. Meeting Report: American Aging Association 40(th) Annual Meeting, Raleigh, North Carolina,
June 3-6, 2011. Rejuvenation Res. 2011, Aug;14(4):449-55.
Swan, M., Hathaway, K., Hogg, C., 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. Engineering Life into Technology: the Application of Complexity Theory to a Potential Phase
Transition of Intelligence. Symmetry 2010, 2, 150:183.
Swan, M. Emerging patient-driven health care models: an examination of health social networks,
consumer personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009,
2, 492-525.
November 10, 2011
DIYgenomics.org
Source: http://melanieswan.com/publications.htm
1
Top 10 list of participative health initiatives
Personal
health records
Image credit:
http://www.dreamstime.com
Social media
Smartphone
health apps
Health social
networks
2010
November 10, 2011
DIYgenomics.org
Automated selftracking devices
Crowdsourced
health studies
Health
advisor
Microbiomics
Blood tests 2.0
Personalized
genomics
Whole human
genome
sequencing
2015
2020+
2
Agenda

Introduction: context for participative health
 Participant-driven health initiatives


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Social media, smartphone health apps, PHRs
Personalized genomics
Crowdsourced studies
Next-generation participative health
Future medicine conclusion
November 10, 2011
DIYgenomics.org
Image credit: Natasha Vita-More, Primo Posthuman
3
Information transmission eras
Analog
Digital
Life code
?
17,300 years ago
1455&1950-2000
2000-2100
2100+
Painting, scrolls
Press, Transistor
DNA
?
November 10, 2011
DIYgenomics.org
4
Biology is an information technology
DNA sequencing:
10x/yr improvement
I love you
010010010010000001101100011
0111101110110011001010010000
0011110010110111101110101
I hate you
010010010010000001101000011
000010111010001100101001000
00011110010110111101110101
Image credit: http://pubs.acs.org/cen/_img/87/i50/8750cover2_law.gif
November 10, 2011
DIYgenomics.org
5
Biology is the information technology
Organ regeneration (urethra)
Algal biofuel
Image credit: Anthony Atala lab
Image credit: http://www.rexresearch.com
Artificial cell booted to life Whole organ decellularization and DNA nanotechnology latch
Image credit: J. Craig Venter Institute
recellularization (heart)
box for drug delivery
Image credit: Thomas Matthiesen
November 10, 2011
DIYgenomics.org
Image credit: Aarhus University
6
Rising worldwide health care costs
November 10, 2011
DIYgenomics.org
Source: http://www.kff.org/insurance/snapshot/OECD042111.cfm
7
Woeful state of global public health systems
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Rising health care costs
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Aging populations worldwide
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Anticipated physician shortages
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Cost per new drug: $1.5 billion
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Image credit: http://www.boomertownsquare.com
New drug apps: 23 in 2011 vs. 45 in 1996
Biotechnology investment reticence1
Upcoming period of care rationing?
November 10, 2011
DIYgenomics.org
1Source:
http://www.innovationnewsdaily.com/medical-innovation-pharmaceutical-drugs-2090
8
Citizen science definition

Performing scientific investigation
without professional training in the field
Image credit: http://www.southernfriedscience.com
Institutional science
research
Citizen science health
and biology
Citizen
science: 200+
organizations1
November 10, 2011
DIYgenomics.org
1http://scienceforcitizens.net/finder
9
Citizen science health – why now?
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Tools
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Plummeting cost of genome sequencing
Availability of consumer blood tests
Online bioinformatics tools
Education and support
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Local DIYbio labs, online forums
Image credit: http://diybionyc.blogspot.com
November 10, 2011
DIYgenomics.org
Image credits: http://www.biocurious.org
10
Agenda

Introduction: context for participative health
 Participant-driven health initiatives




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Social media, smartphone health apps, PHRs
Personalized genomics
Crowdsourced studies
Next-generation participative health
Future medicine conclusion
November 10, 2011
DIYgenomics.org
Image credit: Natasha Vita-More, Primo Posthuman
11
Participative health definition

Health 2.0, Medicine 2.0, eHealth, participative
health (2008)
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“Use of a specific set of Web [2.0] tools (blogs, Podcasts,
tagging, search, wikis, [health social networks], etc.) by actors in
health care including doctors, patients, and scientists, using
principles of…in order to personalize health care, collaborate,
and promote health education” 1
Society for Participatory Medicine (2010)

“Participatory Medicine is a movement in which networked
patients shift from being mere passengers to responsible drivers
of their health, and in which providers encourage and value them
as full partners”2
November 10, 2011
DIYgenomics.org
1Source:
2Source:
http://en.wikipedia.org/wiki/Medicine_2.0#cite_note-jmir.org-3
http://e-patients.net/archives/2010/04/a-patient-centric-definition-of-participatory-medicine.html
12
Participative health activities
(Light)
Social
media
Level of Engagement
Mobile
health apps
PHRs
(personal
health
records)
Consumer
genomics
(Heavy)
Health social networks
and crowd-sourced
health studies
Image credit: Getty Images
November 10, 2011
DIYgenomics.org
13
Health 2.0 social media
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Web 2.0 in the health context
Blogs, twitter, facebook, wikis,
search, google+, video
Image credit: http://www.siliconangle.com
November 10, 2011
DIYgenomics.org
14
Social media increases health literacy
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Consumer response to social media
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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
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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
November 10, 2011
DIYgenomics.org
1Source:
http://www.pewinternet.org/Reports/2011/Social-Life-of-Health-Info.aspx
http://www.mmm-online.com/europe-edges-us-in-social-media-for-health-info-says-study/article/166461/
3Source: http://www.worldofhealthit.org/sessionhandouts/documents/PS34-1-DeniseSilber.pdf
2Source:
15
Social media health tech:
Physician consultation and review
Image credit: http://www.webicina.com
Image credit: http://www.3gdoctor.com
November 10, 2011
DIYgenomics.org
Image credit: http://www.americanwell.com
16
Smartphone as personal doctor
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Mobile is the platform
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One billion+ by 20132
81% physicians using smartphones 20123
Explosive growth in application (app) downloads
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US: more cell phones (328 m) than people (315 m)1
Smartphone users
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Image credit: http://www.psfk.com
5 billion in 2010 versus 300 million in 20094
Health-related apps: 7,0004
Intimate continuous interaction platform
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Phone loss noticed within 5 minutes vs. 1 hour for wallet loss
1Kang
November 10, 2011
DIYgenomics.org
C. Number of cell phones exceeds US population. Washington Post. October 11, 2011.
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.
2Dufau
17
Smartphone health apps
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Consumer uses
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Access patient information, contact colleagues, information
look-up (billing codes, drug formularies, reference material)
Health app focal areas
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Education, information, and self-tracking
Physician uses
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Image credit: http://www.mobihealthnews.com
Nutrition, exercise, diabetes, obesity
Mental health and behavioral change
Scaled up research projects

Thousands recruited in months1
Image credit: tehgaygeek.blogspot.com
November 10, 2011
DIYgenomics.org
1Dufau
S. Smart phone, smart science: how the use of smartphones can revolutionize research in cognitive science. PLoS One. 2011.
18
PHRs (personal health records)
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Patient-administered medical records
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Link with traditional medicine
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Cost savings, real-time information access, error reduction,
improved communication for individuals & health systems
PHR use is growing
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Traditional: blood type, family history, Rx data
Health 2.0: genome profiles, self-tracking data
Image credit: http://mymedsphr.com
11% PHR use in 2011, +3% from 2008 (Deloitte)
Aetna 1.5 million users (Sep 2011)
Improved health outcomes
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PHR users 68% better at following up on recommended care
Empowers health self-management, more active role
November 10, 2011
DIYgenomics.org
19
Health social networks

Definition
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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
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
Image credit: http://glennamoe.com
Sermo (global), BlogFMC (France+), Good Doctor’s Forum
(China), DoctorsNet (UK)
Consumer/patient-focused
November 10, 2011
DIYgenomics.org
20
Health social networks and collaboration
Health social
networks
(global & local)
November 10, 2011
DIYgenomics.org
Health
collaboration
communities
Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525.
21
Global perspective: culture matters
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US: early adopter
 UK: public health initiatives
 Europe
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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
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
Image credit: http://www.worldofstock.com
Rapid early adopters, financial resources, less-democratic
political regimes
Latin America / Asia / Africa (BRIC)

Straight to health 2.0/genomic medicine; regional leaders in key
industries (e.g.; genomic sequencing and interpretation)
November 10, 2011
DIYgenomics.org
1French
National Reference Center for Health Care and Autonomy
22
Agenda

Introduction: context for participative health
 Participant-driven health initiatives





Social media, smartphone health apps, PHRs
Personalized genomics
Crowdsourced studies
Next-generation participative health
Future medicine conclusion
November 10, 2011
DIYgenomics.org
Image credit: Natasha Vita-More, Primo Posthuman
23
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
Example: rs7412 CT
Image credit: http://123RF.com
November 10, 2011
DIYgenomics.org
AA, AG, GG
CC, CT, TT
Numerous useful applications of genomics
1.
Established
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2.
Maturing
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3.
Health condition risk1
Pharmaceutical response2
Novel
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4.
Ancestry
Carrier status
Identity (paternity, forensics)
Athletic performance capability
OTC product response
Environment/toxin processing
Image credit: http://bit.ly/fovpJc
Farther future

Predictive wellness profiling: aging, cancer, immune response
November 10, 2011
DIYgenomics.org
1Source:
2Source:
Swan M. Multigenic condition risk assessment in direct-to-consumer genomic services. Genet Med. 2010 May;12(5):279-88.
http://www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm
25
Direct-to-consumer genomics: 23andMe
1,000,000 SNPs scanned and mapped to 214 conditions
November 10, 2011
DIYgenomics.org
Source: http://www.23andme.com; open source genomes http://www.snpedia.com/index.php/Genomes
26
23andMe colorectal cancer marker
November 10, 2011
DIYgenomics.org
Source: http://www.23andme.com
27
23andMe colorectal cancer marker
November 10, 2011
DIYgenomics.org
Source: http://www.23andme.com
28
Pathway Genomics drug response
November 10, 2011
DIYgenomics.org
Source: http://www.pathway.com
29
Consumer genomics comparison scorecard

Which service to buy?
Consumer
genomic service
#
Conditions
Cost
Report
Data
access
Visible
research
quality1
Updates
deCODEme
49
$2,000
23andme
214
$99


40
$999
+



+
Navigenics*
Pathway Genomics*
71
$299
+



Coriell (10,000
partic. 7/11)
15
public
study
PGP (Personal
Genome Project)
n/a
public
study
*Physician prescription required
November 10, 2011
DIYgenomics.org
1Conditions,
genes, variants, underlying research references, and methodology white paper(s) available on public website
Open-source mobile apps (5,000+ downloads)



Health condition, drug
response, athletic
performance capability
Private 23andMe data upload
TTT
TTT
TCC
Android
“genomics”
4,000+ downloads

iPhone
“genomics”
1,000+ downloads
November 10, 2011
DIYgenomics.org
Android development: Michael Kolb, Lawrence S. Wong, Laura Klemme, Melanie Swan
iOS development: Ted Odet, Greg Smith, Laura Klemme, Melanie Swan
31
DIY genotyping kits: Cofactor Bio

Markets:

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
Research: one-off genotyping
Classroom education
How it works


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
Select SNPs of interest
Order kit ($20/kit (minimum 4))
Go through DNA collection, extraction,
PCR amplification steps
Send results to lab for sequencing
Check online for results
November 10, 2011
DIYgenomics.org
1Source:
http://cofactorbio.com/education
32
Example: what to do with your data

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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
November 10, 2011
DIYgenomics.org
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.
33
Finding your BDNF data, variant rs6265

Consumer genomic
services genotype 1
million variants but only
map a few up to the
annotation browser
November 10, 2011
DIYgenomics.org
34
Athletic performance
November 10, 2011
DIYgenomics.org
Source: http://www.genome.duke.edu/education/seminars/journal-club/documents/Assael_2009.pdf
35
Athletic performance
Category
Image credit: http://www.istockphoto.com
Genes
V
%
S
Endurance, power, and energy
Endurance
ACE, 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
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
AMPD1, APOA1, PPARA, PPARD
5
50
9
Recovery
CKMM/CKM, IL6
2
50
5
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
November 10, 2011
DIYgenomics.org
Source: Swan, M. Applied genomics: personalized interpretation of athletic performance GWAS. 2011 . Submitted.
36
Lung cancer risk and drug response

Risk and drug response for specific cancers
November 10, 2011
DIYgenomics.org
Image credit: http://www.xianet.net
Source: Swan, M. Review of cancer risk prediction in direct-to-consumer genomic services. (poster) Canary Foundation Early Detection
Symposium, May 25-27, 2010, Stanford University, Stanford CA.
37
Predictive wellness profiling: cancer
Image credit: http://utmb.edu

Proto-oncogene/tumor suppressor gene polymorphisms
Gene
RSID
1
TP53
TP53
MDM2
2
MDM4
1
HAUSP
1
Alleles
Poss
Unf
Fav
23andMe alleles
Poss Fav
Ex
p-value
OR
Case
Ctrl
Citation
rs1042522
rs1860746
CG
GT
C
T
G
G
CG
n/a
G
n/a
CG
n/a
0.77
0.04
1.23
1.47
685
6,127
778
5,197
Joshi 2010
Liu 2009
rs2279744
GT
G
T
GT
T
GT
0.91
1.27
685
778
Joshi 2010
rs1380576
CG
G
C
n/a
n/a
n/a
0.95
1.03
4,073
n/a
Sun 2010
rs1529916
AG
G
A
n/a
n/a
n/a
0.07
1.05
4,073
n/a
Sun 2010
1
rs701848
CT
C
T
CT
T
CT
0.00
0.12
53
107
Hosgood 2010
1
rs1903858
AG
G
A
AG
A
AA
0.01
0.13
53
107
Hosgood 2010
2
938C>A
AC
A
C
n/a
n/a
n/a
0.05
n/a
40
40
Fingas 2010
2
rs5443
CT
T
C
CT
C
CC
0.05
n/a
40
40
Fingas 2010
MYC
rs6983267
GT
G
MYC
rs1050477
AC
A
MYC
rs7014346
AG
A
1
2
Tumor Suppressor, Proto-oncogene
T
C
G
GT
GT
AG
T
G
G
TT
GG
GG
0.00
0.00
0.00
1.21
1.17
1.19
930
7,480
14,500
960
7,779
13,294
Tomlinson 2007
Zanke 2007
Tenesa 2008
PTEN
PTEN
BCL2
GNB3
2
TP53: cell cycle arrest, PTEN: cell cycle progression modulator,
MYC: cell cycle regulator
November 10, 2011
DIYgenomics.org
Source: DIYgenomics
38
Wellness profiling: immune system

Immune system genomic wellness profiling
 Immune response: T-cell activation
Image credit: http://www.iayork.com

Gene
CTLA4
CTLA4
CTLA4
CD226
CD86
IL3
IL3
IL3
CTLA4, CD226, CD86, IL3
RSID
rs231775
rs5742909
rs733618
rs763361
rs1129055
rs181781
rs2073506
rs40401
Poss
A/G
C/T
C/T
C/T
A/G
A/G
A/G
C/T
Alleles
Unf Fav
A
G
C
T
C
T
T
C
G
A
A
G
A
G
T
C
23andMe alleles
Poss Fav
Ex
AA
AG
G
CC
CT
T
TT
CT
T
CC
CT
C
GG
AG
A
GG
AG
G
CC
CT
C
CC
CT
C
p-value
0.007
0.098
0.041
0.000
0.006
0.041
0.009
0.014
OR
0.642
0.67
4.62
1.22
0.51
0.55
0.32
2.18
Case
172
172
269
1,990
269
60
60
60
Ctrl
145
145
395
1,642
395
270
270
270
Citation
Duan 2010
Duan 2010
DallaCosta 2010
Dieudé 2010
DallaCosta 2010
Lee 2010
Lee 2010
Lee 2010
CTLA4: T-cell inhibition; IL3: growth-promoting cytokine
November 10, 2011
DIYgenomics.org
Source: DIYgenomics
39
Product and environment genomic profiling

OTC product response, efficacy, and side effects






Skin (anti-wrinkle,1 antioxidant, anti-itching creams,
personalized mosquito repellent)
Hair (hair loss treatments)
Esophagus (reflux, bile acid response treatments)
Teeth (periodontitis remedies)
Sleep (insomnia treatments)
Environmental exposure: toxin processing






Benzene
Quinone oxidoreductase
PAHs metabolism
Arylarene metabolism
Mercury and lead exposure
Liver and kidney health (general)
November 10, 2011
DIYgenomics.org
Source: DIYgenomics
1 P&G, Kaczvinsky JR et al, Skin Therapy Lett, 2011
Image credit: http://sciencephoto.com
40
Microbiomics
Skin microbiome ecosystem distribution


10x human cells (2 kg, +4°C),
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
November 10, 2011
DIYgenomics.org
41
GI microbiome project: my.microbes.eu

EMBL Heidelberg, 1451 €

Enterotype affiliation1
1.
2.
3.

Bacteroides (biotin synthesis)
Prevotella (thiamine synthesis)
Ruminococcus (folate synthesis)
Science for everyone
Enterotype affiliation analysis
Novel promicrobial and
antimicrobial treatments


Stimulatory
Inhibitory
Image credits: my.microbes.eu
November 10, 2011
DIYgenomics.org
1Source:
Arumugam M et al. Enterotypes of the human gut microbiome. Nature. 2011 May 12;473(7346):174-80.
42
Genome politics and regulation

Our world is not Gattaca

Issues: human cloning, sex selection,
genetic privacy, non-discrimination



UN Convention on Human Rights and
Biomedicine 1997 (Ch IV Human Genome)
U.S. Genetic Information Nondiscrimination
Act (GINA) 2008
Image credit: http://www.sonypictures.com
Biocitizenry, health as a basic human
right
Image credit: http://sciencephoto.com
November 10, 2011
DIYgenomics.org
43
Direct-to-consumer genomics trade-offs
Drawbacks




Unregulated
Usefulness of information
 Unclear correlation
 Polygenic disease
 Lack of therapies
Results interpretation
 Genetic counseling
 False positives, false
negatives
Insurance and employment
discrimination
November 10, 2011
DIYgenomics.org
Advantages




Fact-based information
Improved consumer
experience
 Consumer-owned data
 Self-empowerment
Low-cost availability
Impact on healthcare
 Increased health literacy
 Consumer more active,
better outcomes
 Destigmatization
44
Agenda

Introduction: context for participative health
 Participant-driven health initiatives





Social media, smartphone health apps, PHRs
Personalized genomics
Crowdsourced studies
Next-generation participative health
Future medicine conclusion
November 10, 2011
DIYgenomics.org
Image credit: Natasha Vita-More, Primo Posthuman
45
Crowdsourced health studies

Definition:


1. Genotype profiles
Research studies that
derive participants and
data from a large group
of people through an
open call
Researcher-organized



DIYgenomics MTHFR Vitamin B deficiency study1
PatientsLikeMe
23andMe
umol/l
2. Homocysteine levels
Participant-organized



Quantified Self
Genomera
DIYgenomics
November 10, 2011
DIYgenomics.org
Blood Test #
Baseline Centrum
LMF
C + LMF
Baseline
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; 2:e20.
Results are not statistically significant and intended as a pilot demonstration
46
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%, Parkinson’s disease 13%)
November 10, 2011
DIYgenomics.org
Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
47
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



Image credit: http://wdfyfe.wordpress.com
36% participation rate from MS community
16-51% (by treatment) missed one dose in the last 28 days
Patient sentiment per PLM forum discussion

Positive outlook for MS drug Tysabri (natalizumab) despite
being linked to 3 cases of progressive multifocal
leukoencephalopathy (PML) in 2008
November 10, 2011
DIYgenomics.org
Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
48
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 realworld outcomes
Identify and create new tools to further empower health selfmanagement, for example to facilitate patient-organized studies
November 10, 2011
DIYgenomics.org
Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
49
23andMe genome association studies

One of largest Parkinson’s disease (3,426 cases/29,624
controls) studies



20,000 responses on 50 medical phenotypes


Replication of 20 previous genetic associations
Discover of two new ones (rs6812193 and rs11868035)
180 previously reported associations for type 2 diabetes,
prostate cancer, cholesterol levels, and multiple sclerosis; only
75% of expected associations
Non-disease condition (trait) associations


Replication: hair color, eye color, and freckling
Novel associations: morphology, freckling, smell detection, and
sneeze reflex
November 10, 2011
DIYgenomics.org
Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
50
Quantified self



Goal: personalized knowledge through
quantified self-tracking
Format: monthly ‘show n tell’ meetups
Outcome: optimality and improvement

Example: personalized interventions for
depression, low energy, sleep quality
Image credit: http://www.nationalpost.com
November 10, 2011
DIYgenomics.org
Image credit: Quantified Self
Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
51
Quantified self study examples


Data visualization: one year of food
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
November 10, 2011
DIYgenomics.org
1Source:
http://flowingdata.com/2011/06/29/a-year-of-food-consumption-visualized
http://quantifiedself.com/2011/01/results-of-the-buttermind-experiment
3Source: Roberts S. The unreasonable effectiveness of my self-experimentation. Med Hypotheses. 2010 Dec;75(6):482-9.
2Source:
52
Genomera
‘eBay of health studies’
November 10, 2011
DIYgenomics.org
Nov 2011: 300+ community members,
20 studies with 10-65 enrollees
Site access through
www.DIYgenomics.org
53
DIYgenomics

Goal: preventive medicine


Realize preventive medicine by establishing baseline markers of
wellness and pre-clinical interventions
Generalized hypothesis

One or more polymorphisms may result in out-of-bounds
baseline levels of phenotypic markers. These levels may be
improved through personalized intervention.
Genotype
November 10, 2011
DIYgenomics.org
+ Phenotype + Intervention =
Outcome
Source: Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for crowdsourced
preventive medicine research. J Participat Med. 2010, Dec 23; 2:e20.
54
DIYgenomics participant-organized studies

6 studies in open enrollment (vitamin deficiency, aging, and
mental performance); 5 in design (oncology, calcinosis)
November 10, 2011
DIYgenomics.org
Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
55
Image credit: http://bit.ly/g2DIcW
DIYgenomics memory study
Goal: 100 member cohort
• Genotype: COMT, DRD2,
SLC6A3 (~5 SNPs)
(neurotransmitter modulation)
• Phenotype: memory test (2025 minutes)
• Background questionnaire
November 10, 2011
DIYgenomics.org
Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
56
DIYgenomics Retin-A skin cream study

Genetic profiling can predict Retin-A side-effects?
November 10, 2011
DIYgenomics.org
Source: http://genomera.com/studies/retin-a-wonder-cream-for-acne-and-wrinkles-is-there-a-genomic-link
57
DIYgenomics TA-65 aging study

Telomerase genes, telomere length, and intervention
 Telomere-lengthening and immune system benefits (Harley
CB et al, Rejuvenation Res, 2011, de Jesus BB et al, Aging Cell, 2011)
November 10, 2011
DIYgenomics.org
Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
58
Agenda

Introduction: context for participative health
 Participant-driven health initiatives





Social media, smartphone health apps, PHRs
Personalized genomics
Crowdsourced studies
Next-generation participative health
Future medicine conclusion
November 10, 2011
DIYgenomics.org
Image credit: Natasha Vita-More, Primo Posthuman
59
Next-generation participative health

Engaging collaborators



Professionalizing participative health



Know the market
Strategic marketing and recruitment
CRO 2.0: innovating the research model
Validation of crowdsourced studies:
scientific, philosophical, etc.
What else is needed?


Blood tests 2.0
Boilerplate tools for collaborative health
Image credit: http://www.digitalculture-ed.net
November 10, 2011
DIYgenomics.org
60
Engaging personal health collaborators

Construct relevant value propositions
to diverse target markets

Make participation fun and easy

Frame with nomenclature

Enhancement, optimization,
improvement
(Light)
Social media
November 10, 2011
DIYgenomics.org
Image credit: http://www.liberatemedia.com
Participative Health Activities by Level of Engagement
Mobile
health apps
PHRs
(personal
health
records)
Consumer
genomics
(Heavy)
Health social networks and
crowd-sourced health
studies
61
Three participative health user groups

Needs: obtain information and take action
 The health decision maker
Layperson, health
decision maker1
Education, clearly
digestible information,
service comparison,
recommendations
November 10, 2011
DIYgenomics.org
155
Health optimizer
Health professional
Accessible technical
information that can be
verified and turned into
actions
Rapid information access,
research references, custom
configurability, personal data
upload, search
year old women are the biggest health decision makers in the US
Image credits: www.ehow.com, www.DIYgenomics.org, ergonomic-office-supplies.com
62
Professionalizing participative health:
innovating the research model
Traditional Research Model
Patient-organized Research Model
Institutional
Review Board
(IRB)
IRBs, FAQs,
Citizen ethicists
Institutional PI
(principal
investigator)
Grant
funding
Research subjects
Journal
publication
Patient
advocacy
groups
Citizen scientists
Research
foundations
Investigators =
Participants
Self
publishing
Social VC
Crowdsourcing
November 10, 2011
DIYgenomics.org
63
Professionalizing participative health:
the CRO1 2.0 ecosystem
Figure 2. Citizen science health study ecosystem
Funders, sponsors
Academic/clinical
advisors
Other advisors;
biostatisticians
ELSI: IRB,
informed consent
Protocol designer
Study supervisor
Study manager
Academic
collaborator(s)
Study operation platform
(Genomera, etc.)
Study participants
Patient advocacy
groups
November 10, 2011
DIYgenomics.org
Vendors and labs
Physicians
Health advisors
– 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.
1CRO
64
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
November 10, 2011
DIYgenomics.org
65
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
November 10, 2011
DIYgenomics.org
66
What else is needed? Blood Tests 2.0

Low-cost home-administered self-read finger-stick
blood, urine, saliva tests:




Traditional blood tests (Homocysteine, Vitamin B-12, Folate,
Vitamin D, Creatinine, 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
Cholestech LDX
home cholesterol test
November 10, 2011
DIYgenomics.org
OrSense continuous non-invasive
glucose monitoring
ZRT Labs dried
blood spot tests
Source: http://futurememes.blogspot.com/2011/10/blood-tests-20-advances-with-dried.html
67
Open-source health collaboration tools

Boilerplate tools for study design and operation:
 Study design template
http://www.diygenomics.org/files/DIYgenomics-study-design-template-blank.doc

Sample informed consent form
http://www.diygenomics.org/files/informed_consent.doc


Study budget template http://www.diygenomics.org/files/budget.xls
Recruitment and marketing

Study flyers

Conference poster http://www.diygenomics.org/files/DIYgenomics_poster.ppt
Participant recruiting plan http://blog.genomera.com/how-to-recruit-for-your-

http://www.diygenomics.org/files/multistudy_flyer.doc,
http://www.diygenomics.org/files/TA65_flyer.doc,
http://www.diygenomics.org/files/MTHFR_flyer.doc
citizen-science-study
November 10, 2011
DIYgenomics.org
Slides: http://slideshare.net/LaBlogga
68
Study design template: Vitamin B deficiency
Cyanocobalamin
Image credit: http://wikimedia.org
November 10, 2011
DIYgenomics.org
Source: http://diygenomics.pbworks.com
http://diygenomics.pbworks.com/w/file/36469280/DIYgenomics+study+design+template+blank.doc
69
Agenda

Introduction: context for participative health
 Participant-driven health initiatives





Social media, smartphone health apps, PHRs
Personalized genomics
Crowdsourced studies
Next-generation participative health
Future medicine conclusion
November 10, 2011
DIYgenomics.org
Image credit: Natasha Vita-More, Primo Posthuman
70
Role of participative health: future medicine
1. Continuous health information climate
Automated digital health monitoring, self-tracking devices,
and mobile apps providing personalized recommendations
2. Peer collaboration and
health advisors
Individual
Health social networks, crowdsourced
studies, health advisors, wellness
coaches, preventive care plans,
boutique physicians, genetics coaches,
aestheticians, medical tourism
3. Public health system
Deep expertise of traditional health system
for disease and trauma treatment
November 10, 2011
DIYgenomics.org
Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525.
71
Health self-management
A new model of health and health care
November 10, 2011
DIYgenomics.org
Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525, Figure 1.
72
Top 10 list of participative health initiatives
Personal
health records
Image credit:
http://www.dreamstime.com
Social media
Smartphone
health apps
Health social
networks
2010
November 10, 2011
DIYgenomics.org
Automated selftracking devices
Crowdsourced
health studies
Health
advisor
Microbiomics
Blood tests 2.0
Personalized
genomics
Whole human
genome
sequencing
2015
2020+
73
Image credit: http://www.sldesigns.com
But wait…
Drawbacks of participative health
• Health hobbyist niche, not mainstream
• Perceptions of health: negative, deterministic
• Anemic participation in health collaboration communities
• Financial incentives required for self health monitoring
• Unclear how to incorporate into public health systems
November 10, 2011
DIYgenomics.org
74
Participative health summary

The right solution at the right time

Embedded in the public health ecosystem
Image credit: http://sciencephoto.com

Biology: infotech transistor of the 21st century

Advances in participant-driven research and medicine
Social media

Mobile
health apps
PHRs
(personal
health
records)
Consumer
genomics
Health social networks and
crowd-sourced health
studies
Participative health is integral to realizing the
personalized, preventive medicine of the future
November 10, 2011
DIYgenomics.org
75
Merci!
Crowd-sourced clinical trials
Personal genome apps
Collaborators:
International collaborations:
Lorenzo Albanello
Marat Nepomnyashy
Janet Chang
Ted Odet
JST and Rikengenesis
Cindy Chen
Roland Parnaso
Takashi Kido
John Furber
Thomas Pickard
Minae Kawashima
Hong Guo
William Reinhardt
Jin Yamanaka
Kristina Hathaway
Greg Smith
Laura Klemme
Aaron Vollrath
University Hospitals of Geneva
Priya Kshirsagar
Lawrence S. Wong
Louis Nahum
Lucymarie Mantese
Armin Schnider
Raymond McCauley
Creative Commons 3.0 license
Slides: http://slideshare.net/LaBlogga
Melanie Swan
Founder
DIYgenomics
415-505-4426
@DIYgenomics
www.DIYgenomics.org
[email protected]
Stem cell therapies: status of the field


Uses: cell-replacement therapies, and disease
modeling, drug discovery, and drug toxicity screening
Stem cell therapy applications in over 50 diseases


Clinical use and clinical trials


Heart, lung, neurodegenerative, eye disease, cancer, HIV (cure)
Dendreon’s Provenge prostate cancer, Geron spinal cord injury,
Fibrocell’s 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
November 10, 2011
DIYgenomics.org
Source: Swan, M. Steady Advance of Stem Cell Therapies. Rejuvenation
Research. 2011. Forthcoming.
77
Image credit: http://stemcellresources.org
Stem cell therapies: contemporary science

Direct reprogramming of cells from one
lineage to another without returning to
pluripotency as an intermediary step

Improved means of generating and
characterizing induced pluripotent cells

Progress in approaches to
neurodegenerative disease
Image credit: stemcellumbilicalcordblood.com
November 10, 2011
DIYgenomics.org
Source: Swan, M. Steady Advance of Stem Cell Therapies. Rejuvenation
Research. 2011. Forthcoming.
78
Nanomedicine

Drug delivery
Now
 Organ repair
 DNA nanotechnology
 Synthetic biology
 Nanomachines
Farther future
Respirocytes
November 10, 2011
DIYgenomics.org
Nanoparticles
Structural DNA:
Holliday junction
Microbivore
Clottocytes
DNA walker
Artery cleaner
Quantum dot dyes
Vasculocyte
Source: Swan, M. Top ten recent nanomedical advances. Book chapter in Clinical Nanomedicine: from Bench to Bedside 2011,
Forthcoming.
79
Era of 3rd and 4th-gen genome sequencing
1st Gen: Sanger Sequencing
3rd Gen: Sequencing by Synthesis
2nd Gen: Parallelized sequencing
4th Gen: Electronic Sequencing
November 10, 2011
DIYgenomics.org
Sources: http://www.genomicseducation.ca/files/images/information_articles/sequencing.gif,
http://www.wellcome.ac.uk/News/2009/Features/WTX056032.htm,
http://www.pacificbiosciences.com/video_lg.html, http://www.nanoporetech.com/sequences
80