This document summarizes a presentation by Melanie Swan on personalized medicine and DIYgenomics. DIYgenomics conducts crowdsourced health studies that combine genetic data, health metrics, and lifestyle interventions. Their goal is predictive health profiling and personalized prevention. Studies examine relationships between genotypes, phenotypes, and outcomes. Data streams include genomes, sensors, profiles and are integrated for personalized insights. DIYgenomics operates open studies in areas like sleep, empathy, microbiome and diabesity prevention. The model aims to realize preventive healthcare through continuous self-tracking, peer collaboration and crowdsourced research.

1. Personalized Medicine and You!
Melanie Swan
Founder
DIYgenomics
+1-650-681-9482
@DIYgenomics
www.DIYgenomics.org
m@melanieswan.com
Health Technology Forum
September 27, 2012, San Francisco, CA
Slides: http://slideshare.net/LaBlogga

2. September 27, 2012
DIYgenomics.org 1
The Realization of Preventive Medicine
Condition Lifecycle
80% Pre-Clinical 20% Clinical
Telemedicine
eHealth
Initiatives
Social Health Media
Higher-deductible
insurance
Consumer
Genomics
Health Social
Networks
Health Collaboration
Communities
Crowdsourced
Health Studies
Personal Health
Records (PHRs)
Mobile
Health Apps
Quantified Self-
tracking Devices Biosensors
Participatory
Medicine
Hospital Re-admit
Reduction Programs
Personalized
Molecular
Diagnostics
Wellness
Profiling
Disease Risk
Prevention
Personalized
Cancer
Treatment
Health
Coach
P4
Medicine
(Light) Engagement (Heavy)
Home Monitoring
Programs
Swan, M. Health 2050: The Realization of Personalized Medicine through Crowdsourcing, the Quantified Self, and the Participatory
Biocitizen. J Pers Med 2012, 2(3), 93-118.

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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

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DIYgenomics: Research Model
 Goal: preventive medicine
 Realize preventive medicine through predictive risk profiling,
determining baseline markers of wellness and variability, and
engaging in personalized pre-clinical interventions
 Generalized hypothesis
 One or more polymorphisms may result in out-of-bounds
baseline levels of phenotypic markers which may be
ameliorated 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.
Vitamin B Study: MTHFR SNPs + Vitamin B & Homocysteine Blood Test + Vitamin B = Personalized Outcomes

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DIYgenomics.org
Big Data: Integrating Health Data Streams
4
Swan, M. Health 2050: The Realization of Personalized Medicine through Crowdsourcing, the Quantified Self, and the Participatory
Biocitizen. J Pers Med 2012, 2(3), 93-118.
Genome
SNP mutations
Structural variation
Epigenetics
Microbiome
Transcriptome
Environmentome
Metabolome
Diseasome
Proteome
Personal and Family
Health History
Prescription History
Lab Tests: History
and Current
Demographic Data
Self-reported data:
health, exercise,
food, mood
journals, etc.
Biosensor Data
Objective Metrics
Quantified Self
Device Data
Mobile App Data
Quantified Self
Data Streams
Traditional Data StreamsNew Data Streams
Standardized
Instrument
Response
Legend: Consumer-available

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Sensor Mania!
Wearable Electronics
Source: Swan, M. Sensor Mania! The Internet of Things, Objective Metrics, and the Quantified Self 2.0.
J Sens Actuator Netw 2012, submitted.
The Brain: 24/7 Consumer EEG, Eye-tracking, Emotion Mapping, Augmented Reality Glasses
Smartwatch (Pebble) and Smartring (ElectricFoxy)
Electronic tattoos (mc10), $1 blood API (Sano
Intelligence), and Electronic T-shirt (Carre)
Dried blood spot testing (ZRT Lab)
Continuous Monitors (Medtronic)
Image credit: Cisco

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DIYgenomics Memory Study
6
Operated on:

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13 DIYgenomics Studies in Open Enrollment
Source: Swan, M. Sensor Mania! The Internet of Things, Objective Metrics, and the Quantified Self 2.0.
J Sens Actuator Netw 2012, submitted.
 Sleep, Genomics, and Caffeine
 20 sleep SNPs + 3 standardized sleep
instruments + myZeo + caffeine intervention
 Empathy
 OXTR SNP + IRI (Interpersonal Reactivity Index)
+ Personal Virtual Coach
 Microbiome
 Human gut disease risk SNPs + Microbiome
Sequencing + Questionnaire + Probiotic
 Diabesity prevention
 Diabetes & obesity risk SNPs + Hemoglobin &
other blood tests + Glucometer tracking
Genotype Phenotype Intervention Outcome+ + =
Full List: http://ww.DIYgenomics.org

9. September 27, 2012
DIYgenomics.org
DIYgenomics Studies in Design
 Predictive Risk Profiling
 Immune System and Diseasome
 Environmentome (Body Burden and Capacity)
 Cancer Risk and Drug Response
 Mental Performance Optimization
 Creativity
 Learning
 Flow State
 Diabesity Prevention
 Do you have a Sweet Tooth? Genomics and Dietary Preference
8
Genotype Phenotype Intervention Outcome+ + =
Image credit: http://sciencemag.org
Source: DIYgenomics

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Personalized Preventive Medicine and You!
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 system
Deep 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.

11. September 27, 2012
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DIYgenomics Press Coverage
"...'accelerating the professionalization' of do-it-
yourself studies" - March 2012
"Ordinary people are taking control of their health
data" - December 2011
"A group called DIYgenomics has banded together to
analyse their genomes, and even conduct and
participate in small clinical trials" - October 2010
"...early adopters are showing how empowering and
beneficial to science personal genetic information
can be" - September 2010
"...they wanted to build a model trial that could be
easily replicated by citizen scientists anywhere" -
March 2011

12. Thank you!
Melanie Swan
Founder
DIYgenomics
+1-650-681-9482
@DIYgenomics
www.DIYgenomics.org
m@melanieswan.comSlides: 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 apps
Crowd-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