Participant driven-health

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

Melanie Swan Founder

DIYgenomics+1-650-681-9482

@DIYgenomics www.DIYgenomics.org

[email protected]

37th health seminar

"Patient-driven research and medicine"

November 10, 2011, Lausanne Switzerland

Slides: http://slideshare.net/LaBlogga

November 10, 2011DIYgenomics.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. 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, 2011DIYgenomics.org

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

3


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


Information transmission eras

Painting, scrolls Press, Transistor DNA

Analog Digital Life code ?

?

2000-21001455&1950-200017,300 years ago 2100+


DNA sequencing: 10x/yr improvement

6

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


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


Rising worldwide health care costs

Source: http://www.kff.org/insurance/snapshot/OECD042111.cfm


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?

9

Image credit: http://www.boomertownsquare.com

1Source: http://www.innovationnewsdaily.com/medical-innovation-pharmaceutical-drugs-2090


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


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



Agenda





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


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


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


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

16

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


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


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



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


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



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


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


(global & local)


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



Agenda





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


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


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


23andMe colorectal cancer marker

Source: http://www.23andme.com


Pathway Genomics drug response

Source: http://www.pathway.com30


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


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


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

33

DIY genotyping kits: Cofactor Bio

1Source: http://cofactorbio.com/education


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.


Finding your BDNF data, variant rs6265

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


Athletic performance

Source: http://www.genome.duke.edu/education/seminars/journal-club/documents/Assael_2009.pdf 36


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.


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


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


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


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


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


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


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


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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



Agenda





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

47

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 #


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.


PatientsLikeMe: drug-related studies

Off-label use for amitriptyline (depression) and modafinil (wakefullness-promoting; narcolepsy and sleep apnea) 40% ALS amitriptyline users unwanted excess saliva reduced 36% MS and PD modafinil users reported decreased fatigue

Quantifying medication adherence 36% participation rate from MS community 16-51% (by treatment) missed one dose in the last 28 days

Patient sentiment per PLM forum discussion Positive outlook for MS drug Tysabri (natalizumab) despite

being linked to 3 cases of progressive multifocal leukoencephalopathy (PML) in 2008


Image credit: http://wdfyfe.wordpress.com


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



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



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.


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

53

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.


Genomera‘eBay of health studies’

Nov 2011: 300+ community members, 20 studies with 10-65 enrollees

Site access through www.DIYgenomics.org


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.


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.


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


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


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



Agenda





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


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


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


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


Professionalizing participative health: the CRO1 2.0 ecosystem

65

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.


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


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


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


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


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



Agenda





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.


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


Top 10 list of participative health initiatives

Personal health records

Microbiomics

Whole human genome

sequencing


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


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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


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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Social media Mobile health apps

PHRs (personal

health records)

Consumer genomics

Health social networks and crowd-sourced health

studies

Merci!

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


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.


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.


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.


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

Participant driven-health

Business

Transcript of Participant driven-health