DIYgenomics community computing health models
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Transcript of DIYgenomics community computing health models
DIYgenomics crowdsourced health studies: personal wellness and preventive medicine through
collective intelligence
Melanie Swan Founder
DIYgenomics+1-650-681-9482
@DIYgenomics www.DIYgenomics.org
AAAI 2012 Spring Symposium
Self-Tracking and Collective Intelligence for Personal Wellness
March 26, 2012, Stanford University
Slides: http://slideshare.net/LaBlogga
March 26, 2012DIYgenomics.org 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:
Source: http://melanieswan.com/publications.htm
Swan, M. Crowdsourced Health Research Studies: An Important Emerging Complement to Clinical Trials in the Public Health Research Ecosystem. J Med Internet Res 2012, Mar;14(2):e46.
Swan, M. Scaling crowdsourced health studies: the emergence of a new form of contract research organization. Personalized Medicine 2012, Mar;9(2):223-234.
Swan, M. Steady advance of stem cell therapies. Rejuvenation Res 2011, Dec;14(6):699-704. Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for
crowdsourced preventive medicine research. J Participat Med 2010, Dec 23; 2:e20. Swan, M. Multigenic Condition Risk Assessment in Direct-to-Consumer Genomic Services. Genet Med
2010, May;12(5):279-88. Swan, M. Emerging patient-driven health care models: an examination of health social networks,
consumer personalized medicine and quantified self-tracking. Int J Environ Res Public Health 2009, 2, 492-525.
March 26, 2012DIYgenomics.org
Top 10 collective intelligence health trends
Personal health records
Microbiomics
Whole human genome
sequencing
Health social networks
Personalized genomics
Crowdsourced health studies Blood tests 2.0
Automated self-tracking devices
Health advisor
Social media
2020+2010 2015
Image credit: http://www.dreamstime.com
Smartphone health apps
3
March 26, 2012DIYgenomics.org 44
Image credit: Natasha Vita-More, Primo Posthuman
Agenda
Introduction: context for participatory health Participant-driven health initiatives
Social media, smartphone health apps, PHRs Personalized genomics Crowdsourced studies
Next-generation participatory health Conclusion
March 26, 2012DIYgenomics.org 5
Information transmission eras
Painting, scrolls Press, Transistor DNA
Analog Digital Life code ?
?
2000-21001455&1950-200017,300 years ago 2100+
March 26, 2012DIYgenomics.org 6
Artificial intelligence eras
Expert syst, CYC NLP, HTM, NCC Google, Watson
Enumeration Biomimicry Big data ?
?
2000s+1990s+1950s 2100+
March 26, 2012DIYgenomics.org
Big data: personal health informatics
7Academic 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.
DNA: SNP mutations
Microbiomics
Proteomics
RNA expression profiling
Epigenetics
Health 2.0:Personal health
informaticsDNA: Structural
variation
Metabolomics
March 26, 2012DIYgenomics.org
Big data: collective intelligence computing
8
Crowdsourcing
Quantified self-tracking
DIYbio labs
Consumer blood tests
Citizen science
Concierge research
Consumer genomics
Health 2.0:Crowdsourced
health computing
Ambient mental performance optimization
Continuous sampling
March 26, 2012DIYgenomics.org 9
Rising worldwide health care costs
Source: http://www.kff.org/insurance/snapshot/OECD042111.cfm
March 26, 2012DIYgenomics.org
Woeful state of global public health systems
Rising health care costs
Aging worldwide populations
Anticipated physician shortages
Cost per new drug: $1.5 billionNew drug apps: 23 in 2011 vs. 45 in 1996Biotechnology investment reticence1
Solution: big health data and crowdsourced computing
10
Image credit: http://www.boomertownsquare.com
1Source: http://www.innovationnewsdaily.com/medical-innovation-pharmaceutical-drugs-2090
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Image credit: Natasha Vita-More, Primo Posthuman
Agenda
Introduction: context for participatory health Community computing health initiatives
Social media, smartphone health apps, PHRs Personalized genomics Crowdsourced studies
Next-generation participatory health Conclusion
March 26, 2012DIYgenomics.org 12
Participatory health definition
Health 2.0, Medicine 2.0, eHealth (2008) “Use of a specific set of Web [2.0] tools (blogs, Podcasts,
tagging, search, wikis, [health social networks], etc.) by actors in health care including doctors, patients, and scientists, using principles of…in order to personalize health care, collaborate, and promote health education” 1
Society for Participatory Medicine (2010) “Participatory Medicine is a movement in which networked
patients shift from being mere passengers to responsible drivers of their health, and in which providers encourage and value them as full partners”2
1Source: http://en.wikipedia.org/wiki/Medicine_2.0#cite_note-jmir.org-32Source: http://e-patients.net/archives/2010/04/a-patient-centric-definition-of-participatory-medicine.html
Image credit: http://ramialsindi.wordpress.com
March 26, 2012DIYgenomics.org 13
Participatory health activities
(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
March 26, 2012DIYgenomics.org
Web 2.0 in the health context Blogs, twitter, facebook, wikis, search, google+, video
14
Health 2.0 social media
Image credit: http://www.siliconangle.com
March 26, 2012DIYgenomics.org
Social media increases responsibility-taking
27% of US internet users track health data online1
41% of European physicians believe social media will play an increasingly important role in shaping patient management and treatment2
151Source: http://www.pewinternet.org/Reports/2011/Social-Life-of-Health-Info.aspx2Source: http://www.worldofhealthit.org/sessionhandouts/documents/PS34-1-DeniseSilber.pdf
Image credit: http://www.3gdoctor.comImage credit: http://www.americanwell.com
March 26, 2012DIYgenomics.org
Smartphone as personal doctor
Mobile is the platform 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
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
16
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.
Image credit: http://www.psfk.com
Image credit: tehgaygeek.blogspot.com
March 26, 2012DIYgenomics.org
PHRs (personal health records)
Patient-administered medical records
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
17
Image credit: http://mymedsphr.com
Image credit: http://www.mobihealthnews.com
March 26, 2012DIYgenomics.org 18
Health social networks and collaboration
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.
Health collaboration communities
Health social networks
(global & local)
March 26, 2012DIYgenomics.org 1919
Image credit: Natasha Vita-More, Primo Posthuman
Agenda
Introduction: context for participatory health Participant-driven health initiatives
Social media, smartphone health apps, PHRs Personalized genomics Crowdsourced studies
Next-generation participatory health Conclusion
March 26, 2012DIYgenomics.org
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
Example: rs1801133 AG AA, AG, GG
Allele, variant, SNP (single nucleotide polymorphism); “typo” in red; normal in green
Example: rs7412 CT CC, CT, TT
March 26, 2012DIYgenomics.org 21
Numerous useful applications of genomics
1. Established Ancestry Carrier status Identity (paternity, forensics)
2. Maturing Health condition risk1
Pharmaceutical response2
3. Novel Athletic performance capability OTC product response Environment/toxin processing
4. 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 May;12(5):279-88.2Source: http://www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm
March 26, 2012DIYgenomics.org 22
23andMe colorectal cancer marker
Source: http://www.23andme.com
March 26, 2012DIYgenomics.org
Pathway Genomics drug response
Source: http://www.pathway.com23
March 26, 2012DIYgenomics.org
Consumer genomics comparison scorecard
Which service to buy?
*Physician prescription required
Consumer genomic service
# Cond-itions
Cost Report Data access
Visible research quality1
Updates
49 $2,000 + + 214 $99 +
40 $999 71 $299 15 public
study
n/a public study
1Conditions, genes, variants, underlying research references, and methodology white paper(s) available on public website
*
*
March 26, 2012DIYgenomics.org 25
Open-source mobile apps (5,000+ downloads)
Health condition, drug response, athletic performance capability
Private 23andMe data upload
Android
iPhone
Android development: Michael Kolb, Lawrence S. Wong, Laura Klemme, Melanie SwaniOS development: Ted Odet, Greg Smith, Laura Klemme, Melanie Swan
“genomics or DIYgenomics”
T T T
T T T
T C C
March 26, 2012DIYgenomics.org 26
Example: what to do with your data
Check if you have the risk allele for the BDNF gene Determine related SNP/rsID#, rs6265 (neuroplasticity) Search genomic data for rs6265 genotype (e.g., CC) Determine the risk allele (which letter?) (e.g.; G1) Current genomics search resources
PharmGKB, dbSNP, GWAS catalog, SNPedia
Source: http://www.wired.com/wiredscience/2009/10/genetically-bad-driving1Ribeiro, 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
March 26, 2012DIYgenomics.org
Athletic performance
Source: http://www.genome.duke.edu/education/seminars/journal-club/documents/Assael_2009.pdff, Swan, M. Applied genomics: personalized interpretation of athletic performance GWAS. 2012. In press. 28
March 26, 2012DIYgenomics.org
Genome politics and regulation
Our world is not Gattaca Personal genomics has
destigmatized health issues
Issues: human cloning, sex selection, genetic privacy, non-discrimination UN Convention on Human Rights and
Biomedicine 1997 (Ch IV Human Genome) U.S. Genetic Information Nondiscrimination
Act (GINA) 2008
Biocitizenry, health as a human right
Image credit: http://www.sonypictures.com
Image credit: http://sciencephoto.com
29
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Image credit: Natasha Vita-More, Primo Posthuman
Agenda
Introduction: context for participatory health Participant-driven health initiatives
Social media, smartphone health apps, PHRs Personalized genomics Crowdsourced studies
Next-generation participatory health Conclusion
March 26, 2012DIYgenomics.org 31
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+ + =
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.
Image credit: stemcellumbilicalcordblood.com
March 26, 2012DIYgenomics.org 32
DIYgenomics participant-organized studies 7 studies in open enrollment (vitamin deficiency, aging, and
mental performance); 5 in design (oncology, calcinosis)
Source: Swan, M., Crowdsourced health research studies. J Med Internet Res 2012, Mar;14(2):e46
March 26, 2012DIYgenomics.org 33
Genomera‘eBay of health studies’
Mar 2012: 300+ community members, 20 studies with 10-65 enrollees
Site access through www.DIYgenomics.org
March 26, 2012DIYgenomics.org 34
DIYgenomics memory study
Image credit: http://bit.ly/g2DIcW
Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
Goal: 100 member cohort •Genotype: COMT, DRD2, SLC6A3 (~5 SNPs) (neurotransmitter modulation)•Phenotype: memory test (20-25 minutes)•Background questionnaire
March 26, 2012DIYgenomics.org
DIYgenomics Retin-A skin cream study
Genetic profiling can predict Retin-A side-effects?
35Source: http://genomera.com/studies/retin-a-wonder-cream-for-acne-and-wrinkles-is-there-a-genomic-link
March 26, 2012DIYgenomics.org
DIYgenomics TA-65 aging study
Telomerase genes, telomere length, and intervention Telomere-lengthening and immune system benefits (Harley
CB et al, Rejuvenation Res, 2011, de Jesus BB et al, Aging Cell, 2011)
36Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
March 26, 2012DIYgenomics.org
Crowdsourced health studies1
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
37
2. Homocysteine levels
DIYgenomics MTHFR Vitamin B deficiency study2
1. Genotype profiles
Baseline LMF BaselineCentrum
umol/l
C + LMF
1Source: Swan, M., Crowdsourced health research studies. J Med Internet Res 2012, Mar;14(2):e46 2Source: 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
Blood Test #
March 26, 2012DIYgenomics.org
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)
Advisors: confirm protocol design with two independent academics or professionals in the field
38
Genotype Phenotype Intervention Outcome+ + =
Image credit: http://sciencemag.org
Source: DIYgenomics
March 26, 2012DIYgenomics.org 3939
Image credit: Natasha Vita-More, Primo Posthuman
Agenda
Introduction: context for participatory health Participant-driven health initiatives
Social media, smartphone health apps, PHRs Personalized genomics Crowdsourced studies
Next-generation participatory health Conclusion
March 26, 2012DIYgenomics.org 40
Role of participatory health: future medicine
Individual
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
3. Public health systemDeep expertise of traditional health system
for disease and trauma treatment
1. Continuous health information climate Automated digital health monitoring, self-tracking devices, and mobile apps providing personalized recommendations
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.
March 26, 2012DIYgenomics.org 41
Health self-management
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.
A new model of health and health care
March 26, 2012DIYgenomics.org 42
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
Image credit: http://efx3.com
March 26, 2012DIYgenomics.org
Biotechnicity and computational philosophy
43
Computational tools of health-related philosophical discovery •Hardware and software devices and algorithms: quantitative health data streams, health-related smartphone applications, personal electronic health records, quantified self-tracking devices •Crowdsourced human computing networks: crowdsourced disease prediction, health social networks, quantified self n=1 health self-experimentation, crowdsourced health research studies, DIYbio labs
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
Metaphysical shift: new ways of being •Meaning of health and health outcomes•Sense of self and group identity, biocitizenry
Source: Swan, M. Biotechnicity 2.0: Computation-enabled Philosophical Advance in the Epistemology of Human Biology and the Ontology of Bioidentity. 2012. Submitted.
Image credit: http://stemcellresources.org
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Image credit: Natasha Vita-More, Primo Posthuman
Agenda
Introduction: context for participatory health Participant-driven health initiatives
Social media, smartphone health apps, PHRs Personalized genomics Crowdsourced studies
Next-generation participatory health Conclusion
March 26, 2012DIYgenomics.org
Top 10 collective intelligence health trends
Personal health records
Microbiomics
Whole human genome
sequencing
Health social networks
Personalized genomics
Crowdsourced health studies Blood tests 2.0
Automated self-tracking devices
Health advisor
Social media
2020+2010 2015
Image credit: http://www.dreamstime.com
Smartphone health apps
45
March 26, 2012DIYgenomics.org
But wait…
46
Image credit: http://www.sldesigns.com
Drawbacks to participatory health
• Health hobbyist niche, not mainstream
• Perceptions of health: negative, deterministic
• Anemic participation in health collaboration communities
• Financial incentives required for self health monitoring
• Unclear how to incorporate into public health systems
March 26, 2012DIYgenomics.org
Summary: community health computing
The right solution at the right time Embedded in the public health ecosystem
Biotechnicity = the transistor of the 21st century
Advances in participatory health computing
Participatory health is integral to realizing the personalized, preventive medicine of the future
47
Image credit: http://sciencephoto.com
Social media Mobile health apps
PHRs (personal
health records)
Consumer genomics
Health social networks and crowd-sourced health
studies
Thank you!
Melanie SwanFounder
DIYgenomics+1-650-681-9482
@[email protected]: http://slideshare.net/LaBloggaCreative Commons 3.0 license
Collaborators:
Lorenzo Albanello
Janet Chang
Cindy Chen
John Furber
Hong Guo
Kristina Hathaway
Laura Klemme
Priya Kshirsagar
Lucymarie Mantese
Raymond McCauley
Personal genome appsCrowd-sourced clinical trials
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