Future of Health: Overview of Participant-driven Research and Medicine
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Transcript of Future of Health: Overview of Participant-driven Research and Medicine
Future of Health: Overview of Participant-driven Research and Medicine
Melanie Swan Founder
DIYgenomics+1-415-505-4426
@DIYgenomics www.DIYgenomics.org
37th health seminar
"Patient-driven research and medicine"
November 10, 2011, Lausanne Switzerland
Slides: http://slideshare.net/LaBlogga
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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. 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.
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Top 10 list of participative health initiatives
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
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Image credit: Natasha Vita-More, Primo Posthuman
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
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Information transmission eras
Painting, scrolls Press, Transistor DNA
Analog Digital Life code ?
?
2000-21001455&1950-200017,300 years ago 2100+
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DNA sequencing: 10x/yr improvement
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Biology is an information technology
Image credit: http://pubs.acs.org/cen/_img/87/i50/8750cover2_law.gif
I hate you01001001001000000110100001100001011101000110010100100000011110010110111101110101
I love you 01001001001000000110110001101111011101100110010100100000011110010110111101110101
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Biology is the information technology
Image credit: J. Craig Venter Institute
Image credit: Anthony Atala lab
Image credit: Thomas Matthiesen
Artificial cell booted to life
Algal biofuelImage credit: http://www.rexresearch.com
Whole organ decellularization and recellularization (heart)
Organ regeneration (urethra)
DNA nanotechnology latch box for drug delivery
Image credit: Aarhus University
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Rising worldwide health care costs
Source: http://www.kff.org/insurance/snapshot/OECD042111.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 billionNew drug apps: 23 in 2011 vs. 45 in 1996Biotechnology investment reticence1
Upcoming period of care rationing?
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Image credit: http://www.boomertownsquare.com
1Source: http://www.innovationnewsdaily.com/medical-innovation-pharmaceutical-drugs-2090
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Citizen science definition
Institutional science research
Citizen science health and biology
Citizen science: 200+ organizations1
1http://scienceforcitizens.net/finder
Performing scientific investigation without professional training in the field Image credit: http://www.southernfriedscience.com
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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
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Image credits: http://www.biocurious.orgImage credit: http://diybionyc.blogspot.com
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Image credit: Natasha Vita-More, Primo Posthuman
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
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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 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
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Participative 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
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Web 2.0 in the health context Blogs, twitter, facebook, wikis, search, google+, video
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Health 2.0 social media
Image credit: http://www.siliconangle.com
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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
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Image credit: http://ramialsindi.wordpress.com
1Source: http://www.pewinternet.org/Reports/2011/Social-Life-of-Health-Info.aspx2Source: 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
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Social media health tech: Physician consultation and review
Image credit: http://www.webicina.com
Image credit: http://www.americanwell.comImage 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
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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
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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
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Image credit: http://www.mobihealthnews.com
1Dufau S. Smart phone, smart science: how the use of smartphones can revolutionize research in cognitive science. PLoS One. 2011.
Image credit: tehgaygeek.blogspot.com
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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
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Image credit: http://mymedsphr.com
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Health social networks
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 Doctor’s Forum
(China), DoctorsNet (UK)
Consumer/patient-focused
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Image credit: http://glennamoe.com
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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)
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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)
231French National Reference Center for Health Care and Autonomy
Image credit: http://www.worldofstock.com
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Image credit: Natasha Vita-More, Primo Posthuman
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, 2011DIYgenomics.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
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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
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Direct-to-consumer genomics: 23andMe
1,000,000 SNPs scanned and mapped to 214 conditions
Source: http://www.23andme.com; open source genomes http://www.snpedia.com/index.php/Genomes
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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.com30
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Consumer genomics comparison scorecard
Which service to buy?
*Physician prescription required
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
1Conditions, genes, variants, underlying research references, and methodology white paper(s) available on public website
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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”4,000+ downloads
“genomics”1,000+ downloads
T T T
T T T
T C C
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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
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DIY genotyping kits: Cofactor Bio
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-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
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Athletic performance
Source: http://www.genome.duke.edu/education/seminars/journal-club/documents/Assael_2009.pdf 36
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Athletic performanceCategory 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
Image credit: http://www.istockphoto.com
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.
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Lung cancer risk and drug response
Risk and drug response for specific cancers
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.
Image credit: http://www.xianet.net
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Predictive wellness profiling: cancer
Proto-oncogene/tumor suppressor gene polymorphismsImage credit: http://utmb.edu
Alleles 23andMe alleles
Gene RSID Poss Unf Fav Poss Fav Ex p-value OR Case Ctrl Citation
TP531 rs1042522 CG C G CG G CG 0.77 1.23 685 778 Joshi 2010
TP53 rs1860746 GT T G n/a n/a n/a 0.04 1.47 6,127 5,197 Liu 2009
MDM22 rs2279744 GT G T GT T GT 0.91 1.27 685 778 Joshi 2010
MDM41 rs1380576 CG G C n/a n/a n/a 0.95 1.03 4,073 n/a Sun 2010
HAUSP1 rs1529916 AG G A n/a n/a n/a 0.07 1.05 4,073 n/a Sun 2010
PTEN1 rs701848 CT C T CT T CT 0.00 0.12 53 107 Hosgood 2010
PTEN1 rs1903858 AG G A AG A AA 0.01 0.13 53 107 Hosgood 2010
BCL22 938C>A AC A C n/a n/a n/a 0.05 n/a 40 40 Fingas 2010
GNB32 rs5443 CT T C CT C CC 0.05 n/a 40 40 Fingas 2010
MYC2 rs6983267 GT G T GT T TT 0.00 1.21 930 960 Tomlinson 2007
MYC rs1050477 AC A C GT G GG 0.00 1.17 7,480 7,779 Zanke 2007 MYC rs7014346 AG A G AG G GG 0.00 1.19 14,500 13,294 Tenesa 2008
1Tumor Suppressor, 2Proto-oncogene
TP53: cell cycle arrest, PTEN: cell cycle progression modulator, MYC: cell cycle regulator
Source: DIYgenomics
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Wellness profiling: immune system
Immune system genomic wellness profiling Immune response: T-cell activation
CTLA4, CD226, CD86, IL3
Alleles 23andMe alleles
Gene RSID Poss Unf Fav Poss Fav Ex p-value OR Case Ctrl Citation CTLA4 rs231775 A/G A G AG G AA 0.007 0.642 172 145 Duan 2010 CTLA4 rs5742909 C/T C T CT T CC 0.098 0.67 172 145 Duan 2010 CTLA4 rs733618 C/T C T CT T TT 0.041 4.62 269 395 DallaCosta 2010 CD226 rs763361 C/T T C CT C CC 0.000 1.22 1,990 1,642 Dieudé 2010 CD86 rs1129055 A/G G A AG A GG 0.006 0.51 269 395 DallaCosta 2010 IL3 rs181781 A/G A G AG G GG 0.041 0.55 60 270 Lee 2010 IL3 rs2073506 A/G A G CT C CC 0.009 0.32 60 270 Lee 2010 IL3 rs40401 C/T T C CT C CC 0.014 2.18 60 270 Lee 2010
Image credit: http://www.iayork.com
CTLA4: T-cell inhibition; IL3: growth-promoting cytokine
Source: DIYgenomics
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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)
Image credit: http://sciencephoto.com
Source: DIYgenomics1 P&G, Kaczvinsky JR et al, Skin Therapy Lett, 2011
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Microbiomics
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
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Image credit: Grice EA et al, Nat Rev Microbiol, 2011, Figure 3
Skin microbiome ecosystem distribution
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GI microbiome project: my.microbes.eu
EMBL Heidelberg, 1451 €
Enterotype affiliation1
1. Bacteroides (biotin synthesis)
2. Prevotella (thiamine synthesis)
3. Ruminococcus (folate synthesis)
Novel promicrobial and antimicrobial treatments Stimulatory Inhibitory
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Image credits: my.microbes.eu
Enterotype affiliation analysis
1Source: Arumugam M et al. Enterotypes of the human gut microbiome. Nature. 2011 May 12;473(7346):174-80.
Science for everyone
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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
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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
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Image credit: Natasha Vita-More, Primo Posthuman
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, 2011DIYgenomics.org
Crowdsourced health studies
Definition: Research studies that
derive participants and data from a large group of people through an open call
Researcher-organized PatientsLikeMe 23andMe
Participant-organized Quantified Self Genomera DIYgenomics
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2. Homocysteine levels
DIYgenomics MTHFR Vitamin B deficiency study1
1. Genotype profiles
Baseline LMF BaselineCentrum
umol/l
C + LMF
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
Blood Test #
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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%)
48Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
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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
49Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
Image credit: http://wdfyfe.wordpress.com
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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
50Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
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23andMe genome association studies
One of largest Parkinson’s 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
51Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
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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
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Image credit: http://www.nationalpost.com Image credit: Quantified Self
Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.
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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
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Images credit: Lauren Manning
Image credit: Quantified Self
1Source: http://flowingdata.com/2011/06/29/a-year-of-food-consumption-visualized2Source: http://quantifiedself.com/2011/01/results-of-the-buttermind-experiment3Source: Roberts S. The unreasonable effectiveness of my self-experimentation. Med Hypotheses. 2010 Dec;75(6):482-9.
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Genomera‘eBay of health studies’
Nov 2011: 300+ community members, 20 studies with 10-65 enrollees
Site access through www.DIYgenomics.org
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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.
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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.
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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
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DIYgenomics Retin-A skin cream study
Genetic profiling can predict Retin-A side-effects?
58Source: http://genomera.com/studies/retin-a-wonder-cream-for-acne-and-wrinkles-is-there-a-genomic-link
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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)
59Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy
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Image credit: Natasha Vita-More, Primo Posthuman
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
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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
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Engaging personal health collaborators
Construct relevant value propositions to diverse target markets
Make participation fun and easy
Frame with nomenclature Enhancement, optimization,
improvement
Image credit: http://www.liberatemedia.com
(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
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Three participative health user groups
Needs: obtain information and take action The health decision maker
155 year old women are the biggest health decision makers in the US
Education, clearly digestible information, service comparison, recommendations
Layperson, healthdecision maker1
Rapid information access, research references, custom configurability, personal data
upload, search
Health optimizer Health professional
Accessible technical information that can be verified and turned into
actions
Image credits: www.ehow.com, www.DIYgenomics.org, ergonomic-office-supplies.com
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Professionalizing participative health: innovating the research model
Institutional PI (principal
investigator)
Traditional Research Model Patient-organized Research Model
Research subjects
Citizen scientists
Investigators = Participants
Institutional Review Board
(IRB)
IRBs, FAQs, Citizen ethicists
Grant funding
Journal publication
Self publishing
Patient advocacy
groups
Research foundations
Social VC
Crowd-sourcing
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Professionalizing participative health: the CRO1 2.0 ecosystem
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Figure 2. Citizen science health study ecosystem
Funders, sponsors Academic/clinical advisors
Other advisors; biostatisticians
ELSI: IRB, informed consent
Protocol designer Study supervisor
Study participants
Study manager Academic collaborator(s)
Study operation platform (Genomera, etc.)
Patient advocacy groups
Vendors and labs Physicians Health advisors
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.
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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
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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
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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/blood-tests-20-advances-with-dried.html
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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 http://www.diygenomics.org/files/multistudy_flyer.doc, http://www.diygenomics.org/files/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.com/how-to-recruit-for-your-citizen-science-study
Slides: http://slideshare.net/LaBlogga
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Study design template: Vitamin B deficiency
Source: http://diygenomics.pbworks.comhttp://diygenomics.pbworks.com/w/file/36469280/DIYgenomics+study+design+template+blank.doc
CyanocobalaminImage credit: http://wikimedia.org
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Image credit: Natasha Vita-More, Primo Posthuman
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
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Role of participative 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.
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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
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Top 10 list of participative health initiatives
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
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But wait…
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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
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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
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Image credit: http://sciencephoto.com
Social media Mobile health apps
PHRs (personal
health records)
Consumer genomics
Health social networks and crowd-sourced health
studies
Merci!
Melanie SwanFounder
DIYgenomics415-505-4426
@[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
November 10, 2011DIYgenomics.org
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 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
78Image credit: http://stemcellresources.org
Source: Swan, M. Steady Advance of Stem Cell Therapies. Rejuvenation Research. 2011. Forthcoming.
November 10, 2011DIYgenomics.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
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Image credit: stemcellumbilicalcordblood.com
Source: Swan, M. Steady Advance of Stem Cell Therapies. Rejuvenation Research. 2011. Forthcoming.
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Nanomedicine
Drug delivery Organ repair DNA nanotechnology Synthetic biology Nanomachines
Respirocytes Microbivore Artery cleaner
Nanoparticles
VasculocyteClottocytes
DNA walkerStructural DNA: Holliday junction
Quantum dot dyesFarther future
Now
Source: Swan, M. Top ten recent nanomedical advances. Book chapter in Clinical Nanomedicine: from Bench to Bedside 2011, Forthcoming.
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Era of 3rd and 4th-gen genome sequencing3rd Gen: Sequencing by Synthesis
2nd Gen: Parallelized sequencing
1st Gen: Sanger Sequencing
4th Gen: Electronic Sequencing
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