Health Futures: Participatory Medicine and Crowdsourced Research Studies

Health Futures:Participatory Medicine and

Crowdsourced Research Studies

Melanie Swan Founder

DIYgenomics+1-650-681-9482

@DIYgenomics www.DIYgenomics.org

[email protected]

Media X 2012 Seminar

May 16, 2012, Stanford CA

Slides: http://slideshare.net/LaBlogga

May 16, 2012DIYgenomics.org 2

About Melanie Swan

Founder: DIYgenomics Current projects: MelanieSwan.com Education: MBA Finance, Wharton; BA

French/Economics, Georgetown University Work experience: Fidelity, JP Morgan, iPass,

RHK/Ovum, Arthur Andersen Singularity University Instructor, IEET

Affiliate Scholar, 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., 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. 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.

May 16, 2012DIYgenomics.org

Participatory health summary

The right public health solution at the right time

Biology is the transistor of the 21st century

Proliferation of involvement in participatory medicine Light engagement: social media Heavy engagement: crowdsourced health research studies

Participatory health is integral to realizing the personalized, preventive medicine of the future

3

Image credit: http://sciencephoto.com


Top 10 list of participatory 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

4


Image credit: Natasha Vita-More, Primo Posthuman

Agenda

Introduction: context for participatory health Participatory health initiatives

Social media, smartphone health apps, PHRs Personalized genomics Crowdsourced studies

Health 2050: next-generation participatory health and preventive medicine


Information transmission eras

Painting, scrolls Press, Transistor DNA

Analog Digital Life code ?

?

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


Information processing eras

Expert syst, CYC NLP, HTM, NCC Google, Watson

Enumeration Biomimicry Big data ?

?

2000s+1990s+1950s 2100+


Big data: personal health informatics

8Academic 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


Big data: collective intelligence computing

9

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

“Individuals are computing nodes processing health information”


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

Populations: aging and less-healthyCDC: US 34% obese today, 42% by 20301

Anticipated physician shortages

Cost per new drug: $1.5 billionNew drug applications: 23 in 2011 vs. 45 in 1996

Upcoming period of care rationing?

11

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

1Source: http://today.msnbc.msn.com/id/47337275/



Agenda





Participatory health definition

Health 2.0, Medicine 2.0, eHealth, participatory 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


Participatory health activities

(Light) Level of Engagement (Heavy)

Social media

Mobile health apps

PHRs (personal

health records)

Consumer genomics

Health social networks and crowdsourced

health studies

Image credit: Getty Images


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

15

Health 2.0 social media

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


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

161Source: 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


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

17

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


PHRs (personal health records)

Patient-administered medical records

PHR use is growing (Deloitte) 11% PHR use in 2011, +3% from 2008 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

18

Image credit: http://mymedsphr.com

Image credit: http://www.mobihealthnews.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)



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 237 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


23andMe colorectal cancer marker

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


Pathway Genomics drug response

Source: http://www.pathway.com26


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 + + 237 $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

*

*


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


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 31


Personal microbiomics

32

Image credit: Grice EA et al, Nat Rev Microbiol, 2011, Figure 3

Skin microbiome ecosystem distribution

Image credits: my.microbes.eu

My.microbes.eu gut enterotype analysis

Disease risk, drug response, and nutrient generation

Enterotype affiliation and nutrients1

1. Bacteroides (biotin synthesis)

2. Prevotella (thiamine synthesis)

3. Ruminococcus (folate synthesis)

1Source: Arumugam M et al. Enterotypes of the human gut microbiome. Nature. 2011 May 12;473(7346):174-80.



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

34Source: 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.

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


Researcher-organized crowdsourced studies

PatientsLikeMe studies (~50 papers, 150,000 community members, 1000 conditions)

ALS (amyotrophic lateral sclerosis); patient-run lithium study

Pharmaceutical-related studies: off-label use, adherence quantification, patient sentiment

User experience in health social networks 23andMe genome association studies (~10 papers,

>100,000 community members)

Technique: replication and novel discovery Large-scale (3,426 cases/29,624 controls) Parkinson’s

study; phenotype-genotype linkage (20,000 responses) Non-disease condition (trait) associations (hair color,

freckling, smell detection, and sneeze reflex)

35Source: 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.


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

36

Image credit: http://www.nationalpost.com Image credit: Quantified Self

Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.


Genomera‘eBay of health studies’

May 2012: 600+ community members, 25 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 7 studies in open enrollment (vitamin deficiency, aging, and

mental performance)

Source: Swan, M. Review of Crowdsourced Health Research Studies. 2011. Submitted.


Results from DIYgenomics Vitamin B pilot

40

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 #


New DIYgenomics studies

41Source: DIYgenomics

Genomics and Caffeine Sleep

StudyInvestigate a potential genetic link with sleep

quality in healthy individuals and caffeine consumption, using the

myZEO tracker and personalized interventions

Investigate diabetes prevention in healthy

individuals with glucometer tracking, SNP review, hemoglobin, and cholesterol blood tests

Social Intelligence Genomics and Empathy Study

Diabetes Quantified-Self Tracking Study

Determine if there is a link between genetics

and altruism, empathy, and optimism, including with the use of a SIRI 2.0 personal virtual coach intervention



Agenda



Health 2050: next-generation participatory health and preventive medicine Practical Philosophical


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.


New health frontier: mental performance optimization

44

‘Siri 2.0’ Personal Virtual Coach from DIYgenomics

Sources: http://cbits.northwestern.edu and http://quantifiedself.com/2009/03/a-few-weeks-ago-i

Source: DIYgenomics Social Intelligence Studyhttp://diygenomics.pbworks.com/w/page/48946791/social_intelligence

PTSD App Mood Management Apps from Mobilyze and M. Morris

Source: http://www.ptsd.va.gov/public/pages/

ptsdcoach.asp


Professionalizing participatory health: innovating the research model

Institutional PI (principal

investigator)

Traditional Research Model Participatory Research ModelCRO 2.0 (contract research organization

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

Source: Swan, M. Scaling crowdsourced health studies: the emergence of a new form of contract research organization. Personalized Medicine 2012, Mar;9(2):223-234.


More consumer assays are needed

Low-cost home-administered self-read tests:1. Blood/saliva/urine tests 2.0 (Cholesterol, Vitamins A-E, Folate,

Creatinine, eGFR, Cortisol, Calcium, Iron; Hormones Estrogen, Progesterone, Testosterone, Estradiol; Immune system: CD4, CD8/CD28 ratio, IL-1, IL-6)

2. Daily microbiome profiling assay (skin, oral cavity, gut)

3. Consumer epigenetic test

4. Consumer RNA expression test

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


Philosophically expanded concept of health

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


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

Source: Swan, M. Biotechnicity 2.0: Computation-enabled Philosophical Advance in the Epistemology of Human Biology and the Ontology of Bioidentity. May 2012. Conference presentation: Symposium on Computational Philosophy, AISB/IACAP World Congress (in Honor of Alan Turing, 1912-1954), July 2-6, 2012, University of Birmingham, Birmingham, UK.


Professionalizing participatory 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

Source: Swan, M. Biotechnicity 2.0: Computation-enabled Philosophical Advance in the Epistemology of Human Biology and the Ontology of Bioidentity. May 2012. Conference presentation: Symposium on Computational Philosophy, AISB/IACAP World Congress (in Honor of Alan Turing, 1912-1954), July 2-6, 2012, University of Birmingham, Birmingham, UK.


Top 10 list of participatory 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

Smartphone health apps

50


But wait…

51

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

Potential drawbacks of 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


Participatory health summary

The right public health solution at the right time

Biology is the transistor of the 21st century

Proliferation of involvement in participatory medicine Light engagement: social media Heavy engagement: crowdsourced health research studies

Participatory health is integral to realizing the personalized, preventive medicine of the future

52

Image credit: http://sciencephoto.com

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


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


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?

56Source: 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)

57Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy


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

58

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.


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

59

DIY genotyping kits: Cofactor Bio

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


Biotechnicity and computational philosophy

60

Computational tools of health 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: What do the new definitions of health mean?•Identity: 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


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

61

Genotype Phenotype Intervention Outcome+ + =

Image credit: http://sciencemag.org

Source: DIYgenomics

Health Futures: Participatory Medicine and Crowdsourced Research Studies

Technology

health education

health futures

participatory health

personal health informaticsdna

health care costs populations

worldwide health care

right public health

integrated health data