diygenomics community computing health models

DIYgenomics crowdsourced health studies: personal wellness and preventive medicine through

collective intelligence

Melanie Swan Founder

DIYgenomics+1-650-681-9482

@DIYgenomics www.DIYgenomics.org

[email protected]

AAAI 2012 Spring Symposium

Self-Tracking and Collective Intelligence for Personal Wellness

March 26, 2012, Stanford University

Slides: http://slideshare.net/LaBlogga

March 26, 2012DIYgenomics.org 2

About Melanie Swan

Founder DIYgenomics, futurist and applied genomics expert

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

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

RHK/Ovum, Arthur Andersen Sample publications:

Source: http://melanieswan.com/publications.htm

Swan, M. Crowdsourced Health Research Studies: An Important Emerging Complement to Clinical Trials in the Public Health Research Ecosystem. J Med Internet Res 2012, Mar;14(2):e46.

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

Swan, M. Steady advance of stem cell therapies. Rejuvenation Res 2011, Dec;14(6):699-704. Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for

crowdsourced preventive medicine research. J Participat Med 2010, Dec 23; 2:e20. Swan, M. Multigenic Condition Risk Assessment in Direct-to-Consumer Genomic Services. Genet Med

2010, May;12(5):279-88. Swan, M. Emerging patient-driven health care models: an examination of health social networks,

consumer personalized medicine and quantified self-tracking. Int J Environ Res Public Health 2009, 2, 492-525.

March 26, 2012DIYgenomics.org

Top 10 collective intelligence health trends

Personal health records

Microbiomics

Whole human genome

sequencing

Health social networks

Personalized genomics

Crowdsourced health studies Blood tests 2.0

Automated self-tracking devices

Health advisor

Social media

2020+2010 2015

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

Smartphone health apps

3


Image credit: Natasha Vita-More, Primo Posthuman

Agenda

Introduction: context for participatory health Participant-driven health initiatives

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

Next-generation participatory health Conclusion


Information transmission eras

Painting, scrolls Press, Transistor DNA

Analog Digital Life code ?

?

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


Artificial intelligence eras

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

Enumeration Biomimicry Big data ?

?

2000s+1990s+1950s 2100+


Big data: personal health informatics

7Academic papers re: integrated health data streams: Auffray C, et al. Looking back at genomic medicine in 2011. Genome Med. 2012 Jan 30;4(1):9.

Chen R et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell. 2012 Mar 16;148(6):1293-307.

DNA: SNP mutations

Microbiomics

Proteomics

RNA expression profiling

Epigenetics

Health 2.0:Personal health

informaticsDNA: Structural

variation

Metabolomics


Big data: collective intelligence computing

8

Crowdsourcing

Quantified self-tracking

DIYbio labs

Consumer blood tests

Citizen science

Concierge research

Consumer genomics

Health 2.0:Crowdsourced

health computing

Ambient mental performance optimization

Continuous sampling


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 worldwide populations

Anticipated physician shortages

Cost per new drug: $1.5 billionNew drug apps: 23 in 2011 vs. 45 in 1996Biotechnology investment reticence1

Solution: big health data and crowdsourced computing

10

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

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



Agenda

Introduction: context for participatory health Community computing health initiatives




Participatory health definition

Health 2.0, Medicine 2.0, eHealth (2008) “Use of a specific set of Web [2.0] tools (blogs, Podcasts,

tagging, search, wikis, [health social networks], etc.) by actors in health care including doctors, patients, and scientists, using principles of…in order to personalize health care, collaborate, and promote health education” 1

Society for Participatory Medicine (2010) “Participatory Medicine is a movement in which networked

patients shift from being mere passengers to responsible drivers of their health, and in which providers encourage and value them as full partners”2

1Source: http://en.wikipedia.org/wiki/Medicine_2.0#cite_note-jmir.org-32Source: http://e-patients.net/archives/2010/04/a-patient-centric-definition-of-participatory-medicine.html

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


Participatory health activities

(Light) Level of Engagement (Heavy)

Social media

Mobile health apps

PHRs (personal

health records)

Consumer genomics

Health social networks and crowd-sourced

health studies

Image credit: Getty Images


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

14

Health 2.0 social media

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


Social media increases responsibility-taking

27% of US internet users track health data online1

41% of European physicians believe social media will play an increasingly important role in shaping patient management and treatment2

151Source: http://www.pewinternet.org/Reports/2011/Social-Life-of-Health-Info.aspx2Source: http://www.worldofhealthit.org/sessionhandouts/documents/PS34-1-DeniseSilber.pdf

Image credit: http://www.3gdoctor.comImage credit: http://www.americanwell.com


Smartphone as personal doctor

Mobile is the platform US: more cell phones (328 m) than people (315 m)1

Worldwide smartphone users One billion+ by 20132

81% physicians using smartphones 20123

Explosive growth in application (app) downloads 5 billion in 2010 versus 300 million in 20094

Health-related apps: 7,0004

Studies: thousands recruited in months2

Intimate continuous interaction platform Phone loss noticed within 5 minutes vs. 1 hour for wallet loss Kids chat with Siri as virtual friend

16

1Kang C. Number of cell phones exceeds US population. Washington Post. October 11, 2011.2Dufau S. Smart phone, smart science: how the use of smartphones can revolutionize research in cognitive science. PLoS One. 2011.3Kiser K. 25 ways to use your smartphone. Physicians share their favorite uses and apps. Minn Med. 2011. 4Boulos MN. How smartphones are changing the face of mobile and participatory healthcare. Biomed Eng Online. 2011.

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

Image credit: tehgaygeek.blogspot.com


PHRs (personal health records)

Patient-administered medical records

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

(Deloitte) Aetna 1.5 million users (Sep 2011)

Improved health outcomes PHR users 68% better at following up on

recommended care Empowers health self-management, more

active role

17

Image credit: http://mymedsphr.com

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


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


23andMe colorectal cancer marker

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


Pathway Genomics drug response

Source: http://www.pathway.com23


Consumer genomics comparison scorecard

Which service to buy?

*Physician prescription required

Consumer genomic service

# Cond-itions

Cost Report Data access

Visible research quality1

Updates

49 $2,000 + + 214 $99 +

40 $999 71 $299 15 public

study

n/a public study

1Conditions, genes, variants, underlying research references, and methodology white paper(s) available on public website

*

*


Open-source mobile apps (5,000+ downloads)

Health condition, drug response, athletic performance capability

Private 23andMe data upload

Android

iPhone

Android development: Michael Kolb, Lawrence S. Wong, Laura Klemme, Melanie SwaniOS development: Ted Odet, Greg Smith, Laura Klemme, Melanie Swan

“genomics or DIYgenomics”

T T T

T T T

T C C


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.pdff, Swan, M. Applied genomics: personalized interpretation of athletic performance GWAS. 2012. In press. 28


Genome politics and regulation

Our world is not Gattaca Personal genomics has

destigmatized health issues

Issues: human cloning, sex selection, genetic privacy, non-discrimination UN Convention on Human Rights and

Biomedicine 1997 (Ch IV Human Genome) U.S. Genetic Information Nondiscrimination

Act (GINA) 2008

Biocitizenry, health as a human right

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

Image credit: http://sciencephoto.com

29



Agenda





DIYgenomics

Goal: preventive medicine Realize preventive medicine by establishing baseline markers

of wellness and pre-clinical interventions

Generalized hypothesis One or more polymorphisms may result in out-of-bounds

baseline levels of phenotypic markers. These levels may be improved through personalized intervention.

Genotype Phenotype Intervention Outcome+ + =

Source: Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for crowdsourced preventive medicine research. J Participat Med. 2010, Dec 23; 2:e20.

Image credit: stemcellumbilicalcordblood.com


DIYgenomics participant-organized studies 7 studies in open enrollment (vitamin deficiency, aging, and

mental performance); 5 in design (oncology, calcinosis)

Source: Swan, M., Crowdsourced health research studies. J Med Internet Res 2012, Mar;14(2):e46


Genomera‘eBay of health studies’

Mar 2012: 300+ community members, 20 studies with 10-65 enrollees

Site access through www.DIYgenomics.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?

35Source: 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)

36Source: http://genomera.com/studies/aging-telomere-length-and-telomerase-activation-therapy


Crowdsourced health studies1

Definition: Research studies that

derive participants and data from a large group of people through an open call

Researcher-organized PatientsLikeMe 23andMe

Participant-organized Quantified Self Genomera DIYgenomics

37

2. Homocysteine levels

DIYgenomics MTHFR Vitamin B deficiency study2

1. Genotype profiles

Baseline LMF BaselineCentrum

umol/l

C + LMF

1Source: Swan, M., Crowdsourced health research studies. J Med Internet Res 2012, Mar;14(2):e46 2Source: Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for crowdsourced preventive medicine research. J Participat Med. 2010 Dec 23; 2:e20. Results are not statistically significant and intended as a pilot demonstration

Blood Test #


Standard study protocol – methodology

Collect relevant genomic SNP data Literature search for polymorphisms associated with condition

Measure relevant phenotypes before and after (typical study duration = 1 month) Quantitative measures: blood test, self-tracking device data Qualitative measures: user surveys

Intervention (n=100 to 1000) Group A: nothing (control) Group B: intervention 1 (experimental group 1) Group C: intervention 2 (experimental group 2)

Advisors: confirm protocol design with two independent academics or professionals in the field

38

Genotype Phenotype Intervention Outcome+ + =

Image credit: http://sciencemag.org

Source: DIYgenomics



Agenda





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.


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


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


Biotechnicity and computational philosophy

43

Computational tools of health-related philosophical discovery •Hardware and software devices and algorithms: quantitative health data streams, health-related smartphone applications, personal electronic health records, quantified self-tracking devices •Crowdsourced human computing networks: crowdsourced disease prediction, health social networks, quantified self n=1 health self-experimentation, crowdsourced health research studies, DIYbio labs

Epistemic advance: new knowledge generation•Content: New data streams, larger data sets, more granular data, higher order magnitude science•Process: New algorithms and new models

Metaphysical shift: new ways of being •Meaning of health and health outcomes•Sense of self and group identity, biocitizenry

Source: Swan, M. Biotechnicity 2.0: Computation-enabled Philosophical Advance in the Epistemology of Human Biology and the Ontology of Bioidentity. 2012. Submitted.

Image credit: http://stemcellresources.org



Agenda





Top 10 collective intelligence health trends

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

45


But wait…

46

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

Drawbacks to participatory health

• Health hobbyist niche, not mainstream

• Perceptions of health: negative, deterministic

• Anemic participation in health collaboration communities

• Financial incentives required for self health monitoring

• Unclear how to incorporate into public health systems


Summary: community health computing

The right solution at the right time Embedded in the public health ecosystem

Biotechnicity = the transistor of the 21st century

Advances in participatory health computing

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

47

Image credit: http://sciencephoto.com

Social media Mobile health apps

PHRs (personal

health records)

Consumer genomics

Health social networks and crowd-sourced health

studies

Thank you!

Melanie SwanFounder

DIYgenomics+1-650-681-9482

@[email protected]: http://slideshare.net/LaBloggaCreative Commons 3.0 license

Collaborators:

Lorenzo Albanello

Janet Chang

Cindy Chen

John Furber

Hong Guo

Kristina Hathaway

Laura Klemme

Priya Kshirsagar

Lucymarie Mantese

Raymond McCauley

Personal genome appsCrowd-sourced clinical trials

Marat Nepomnyashy

Ted Odet

Roland Parnaso

Thomas Pickard

William Reinhardt

Greg Smith

Aaron Vollrath

Lawrence S. Wong

International collaborations:

JST and Rikengenesis

Takashi Kido

Minae Kawashima

Jin Yamanaka

University Hospitals of Geneva

Louis Nahum

Armin Schnider

diygenomics community computing health models

Technology

health education

big health data

personal health informaticsdna

integrated health data

participatory medicine

source http

consumer personalized

genomic medicine