Realize preventive medicine through predictive risk profiling, determining baseline markers of wellness and variability, and engaging in personalized pre-clinical interventions

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

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

3. Health Social Networks and Collaboration
Health
Health Social Collaboration
Networks Communities
Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
September 27, 2012 personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525. 3
DIYgenomics.org

4. 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
Vitamin B Study: MTHFR SNPs + Vitamin B & Homocysteine Blood Test + Vitamin B = Personalized Outcomes
September 27, 2012 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. 4
DIYgenomics.org

5. Big Data: Integrating Health Data Streams
New Data Streams Traditional Data Streams Quantified Self
Data Streams
Genome
SNP mutations Personal and Family Self-reported data:
Structural variation Health History health, exercise,
Epigenetics food, mood
journals, etc.
Microbiome
Prescription History
Transcriptome Mobile App Data
Lab Tests: History
Metabolome and Current
Quantified Self
Proteome Demographic Data Device Data
Diseasome Standardized
Biosensor Data
Instrument
Objective Metrics
Environmentome Response
Swan, M. Health 2050: The Realization of Personalized Medicine through Crowdsourcing, the Quantified Self, and the Participatory
September 27, 2012
Biocitizen. J Pers Med 2012, 2(3), 93-118. 5
DIYgenomics.org Legend: Consumer-available

6. Sensor Mania!
Wearable Electronics
Smartwatch (Pebble) and Smartring (ElectricFoxy)
Electronic tattoos (mc10), $1 blood API (Sano
Intelligence), and Electronic T-shirt (Carre)
Dried blood spot testing (ZRT Lab) Image credit: Cisco
Continuous Monitors (Medtronic)
The Brain: 24/7 Consumer EEG, Eye-tracking, Emotion Mapping, Augmented Reality Glasses
September 27, 2012 Source: Swan, M. Sensor Mania! The Internet of Things, Objective Metrics, and the Quantified Self 2.0.
J Sens Actuator Netw 2012, submitted. 6
DIYgenomics.org

7. Operated on:
DIYgenomics Memory Study
September 27, 2012
7
DIYgenomics.org

8. 13 DIYgenomicsGenotype + Phenotype + Intervention
Studies in Open =
Outcome
Enrollment
 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
Full List: http://ww.DIYgenomics.org
September 27, 2012 Source: Swan, M. Sensor Mania! The Internet of Things, Objective Metrics, and the Quantified Self 2.0.
J Sens Actuator Netw 2012, submitted. 8
DIYgenomics.org

9. Genotype Phenotype Intervention Outcome
+ + =
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
Image credit: http://sciencemag.org
 Diabesity Prevention
 Do you have a Sweet Tooth? Genomics and Dietary Preference
September 27, 2012 Source: DIYgenomics
9
DIYgenomics.org

10. Personalized Preventive Medicine and You!
1. Continuous health information climate
Automated digital health monitoring, self-tracking devices,
and mobile apps providing personalized recommendations
2. Peer collaboration and
health advisors
Health social networks, crowdsourced
studies, health advisors, wellness
coaches, preventive care plans,
Individual boutique physicians, genetics coaches,
aestheticians, medical tourism
3. Public health system
Deep expertise of traditional health system
for disease and trauma treatment
Source: Extended from Swan, M. Emerging patient-driven health care models: an examination of health social networks, consumer
September 27, 2012
personalized medicine and quantified self-tracking. Int. J. Environ. Res. Public Health 2009, 2, 492-525. 10
DIYgenomics.org

11. 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
September 27, 2012
11
DIYgenomics.org

12. Crowd-sourced clinical trials
Personal genome apps
Thank you!
Collaborators: International collaborations:
Lorenzo Albanello Marat Nepomnyashy
Janet Chang Ted Odet JST and Rikengenesis
Cindy Chen Roland Parnaso Takashi Kido
John Furber Thomas Pickard Minae Kawashima
Hong Guo William Reinhardt Jin Yamanaka
Kristina Hathaway Greg Smith
Laura Klemme Aaron Vollrath University Hospitals of Geneva
Priya Kshirsagar Lawrence S. Wong Louis Nahum
Lucymarie Mantese Armin Schnider Melanie Swan
Founder
Raymond McCauley DIYgenomics
+1-650-681-9482
@DIYgenomics
www.DIYgenomics.org
Creative Commons 3.0 license Slides: http://slideshare.net/LaBlogga m@melanieswan.com