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![Page 1: DIYgenomics: an open platform for citizen science Melanie Swan Founder DIYgenomics 415-505-4426 @DIYgenomics studies@DIYgenomics.org.](https://reader036.fdocuments.us/reader036/viewer/2022062618/55145fc6550346494e8b5879/html5/thumbnails/1.jpg)
DIYgenomics: an open platform for citizen science
Melanie Swan Founder
DIYgenomics415-505-4426
@DIYgenomics www.DIYgenomics.org
July 21, 2010 OSCON, Portland OR
Slides: http://slideshare.net/LaBlogga/slideshows
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2July 21, 2010DIYgenomics.org
About Melanie Swan
Founder, DIYgenomics Futurist & serial entrepreneur MBA, Wharton; BA, Georgetown Sample publications
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.
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3July 21, 2010DIYgenomics.org
Agenda
Open source, open science, citizen science: context for DIYgenomics
DNA sequencing – 10x/yr improvements DIYgenomics
Personal genome apps Citizen science research studies
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4July 21, 2010DIYgenomics.org
Open source: literal and conceptual
Software
Data (and analysis)• 1 million member biobanks
• Individual-contributed health data
Activities: scienceOpen science, citizen science
• Long-tail medicine• Preventive medicine
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5July 21, 2010DIYgenomics.org
Open science / citizen science ecosystem
Traditional science research
Open science
DIYbio
Citizen science: 200+ organizations
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6July 21, 2010DIYgenomics.org
Agenda
Open source, open science, citizen science: context for DIYgenomics
DNA sequencing – 10x/yr improvements DIYgenomics
Personal genome apps Citizen science research studies
![Page 7: DIYgenomics: an open platform for citizen science Melanie Swan Founder DIYgenomics 415-505-4426 @DIYgenomics studies@DIYgenomics.org.](https://reader036.fdocuments.us/reader036/viewer/2022062618/55145fc6550346494e8b5879/html5/thumbnails/7.jpg)
7July 21, 2010DIYgenomics.org
We are standing in a new era
April 1, 2010 Image credit: http://pubs.acs.org/cen/_img/87/i50/8750cover2_law.gif Dec. 14, 2009
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8July 21, 2010DIYgenomics.org
3rd and 4th generation sequencing arrives3rd 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
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9July 21, 2010DIYgenomics.org
Unbounded opportunity: read and write DNA
Synthetic chromosome created Bacterial genome built from
scratch and booted to life
Image credit: http://www.guardian.co.uk/science/2010/may/20/craig-venter-synthetic-life-form
May 22, 2010
Source: Gibson DG et al. Creation of a Bacterial Cell Controlled by a Chemically Synthesized Genome. Science. 2010 May 20.
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10July 21, 2010DIYgenomics.org
New concept of 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.
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11July 21, 2010DIYgenomics.org
Agenda
Open source, open science, citizen science: context for DIYgenomics
DNA sequencing – 10x/yr improvements DIYgenomics
Personal genome apps Citizen science research studies
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12July 21, 2010DIYgenomics.org
DIYgenomics model
Problem: lack of predictive self-health management tools
Health genomics studies• MTHFR mutation/Vit B-12 deficiency• Aging • Cancer analysis• Cholesterol management• Macular degeneration• Neuroplasticity
1. Supplement efficacy
2. Drug efficacy, dosage & side effects
3. General longitudinal studies
1. Health condition risk
2. Drug response
3. Athletic performance
4. Personal care products
5. Diseaseome
6. Vitamin supplement efficacy
7. Nutrigenomics
8. Pet genomics
9. Overall report (all of the above)
Open-source software• Web & mobile applications
2. Personal genome apps1. Patient-driven clinical trials/research studies
3. Citizen science community platform (Facebook/eBay of genomics)• Interaction and study design & operation
•Biobank for genotyping files & EMR import
Provided by partner company: Genomera
(Advisory Board: George Church, Hugh Rienhoff)
Behavioral genomics studies• Productivity & attention• Personality predisposition• Risk-taking behavior
Additional genomic studies• Copy-number variation• Gene expression• Diseasome
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13July 21, 2010DIYgenomics.org
Apps - Android
Side-by-side comparison of consumer genomic services by loci and variants for top 20 conditions
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14July 21, 2010DIYgenomics.org
Apps - iPhone
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15July 21, 2010DIYgenomics.org
Apps – web based personal genome tools
Health risk
Risk for top 20 Health Conditions
Response to 250 Drugs
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16July 21, 2010DIYgenomics.org
Apps – MySNPs
FILEfox extension Private, local
Response to 250 Drugs
Marat Nepomnyashy; https://addons.mozilla.org/en-US/firefox/addon/156946/
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17July 21, 2010DIYgenomics.org
Apps – web based personal genome tools
Drug response: Side-by-side comparison of locus, gene and variant information for 250 drugs
* indicates that the FDA has validated genomic markers for this drug
Risk for top 20 Health Conditions
Response to 250 Drugs
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18July 21, 2010DIYgenomics.org
Agenda
Open source, open science, citizen science: context for DIYgenomics
DNA sequencing – 10x/yr improvements DIYgenomics
Personal genome apps Citizen science research studies
![Page 19: DIYgenomics: an open platform for citizen science Melanie Swan Founder DIYgenomics 415-505-4426 @DIYgenomics studies@DIYgenomics.org.](https://reader036.fdocuments.us/reader036/viewer/2022062618/55145fc6550346494e8b5879/html5/thumbnails/19.jpg)
19July 21, 2010DIYgenomics.org
DIYgenomics citizen science studies
Model: integrate health data streams for preventive medicine Available now: genotype, phenotype & intervention data Vis-à-vis traditional model: immediate, prospective, longitudinal,
systems-level approach Health genomics
Aging Pre-diabetes Macular degeneration Neuroplasticity
Behavioral genomics Productivity, concentration and focus Personality predisposition Risk-taking/novelty-seeking behavior Image credit: http://www.tigerteamconsulting.com/TTC_Site/sectors_binf.jsp
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20July 21, 2010DIYgenomics.org
DIYgenomics study #1: MTHFR/Vit B12
Do common mutations in the MTHFR gene keep vitamin B from working?
Can a group of ordinary people come together to find out? And maybe find a treatment?
In the MTHFR gene (methylenetetrahydrofolate reductase), 2 small variations in DNA (SNPs rs1801133/C677T & rs1801131/A1298C) keep vitamin B9 (or folic acid) from being metabolized into its active form (folate).
Without this form of vitamin B, homocysteine may accumulate. This may lead to nutritional deficiencies and symptoms associated with diabetes complications, including vascular damage and nerve damage. This is also associated with blood clots and pregnancy loss.
Up to 60% of people may have some form of MTHFR mutation.
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21July 21, 2010DIYgenomics.org
DIYgenomics study #1: MTHFR/Vit B12
We aim to: Find people with MTHFR mutations - by collecting
genotype data from volunteers who have used genetic testing services like 23andMe.
Try simple interventions - like special vitamin B supplements available over-the-counter.
See if they work - by asking participants to share results from blood tests performed at commercial labs.
Drug companies won't do this type of study -- there's little money to be made in over-the-counter treatments.
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22July 21, 2010DIYgenomics.org
MTHFR pathway diagram
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23July 21, 2010DIYgenomics.org
DIYgenomics MTHFR study structure
Genotype
MTHFR gene SNPs:
rs1801133 (A/G)
rs1801131 (A/G)
Phenotype
Blood tests:
B-12 and
Homocysteine
Intervention
1. B-complex
2. L-methylfolate
3. B-complex + L-methylfolate
Findings
Analyze, explore, implement, share,
and publish
Investigate genotype-phenotype linkage and apply interventions to improve phenotypic outcomes
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24July 21, 2010DIYgenomics.org
MTHFR study – preliminary results
Average drug store vitamin (Spectrum multivitamin) reduced homocysteine levels for 4/5 participants
Blood Test #
Homocysteine umol/l
DIYgenomics citizen science study: Homocysteine Levels
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25July 21, 2010DIYgenomics.org
DIYgenomics Citizen Science – Join Us!
Participate in a study
Organize a study on our platform
Contribute your data
Innovate blood tests 2.0 and interventions 2.0 (synthetic biology)
Collaborate: Japan, South AfricaImage credit: http://www.uchsc.edu/vivat/2006/September2006/images/DNA_strand.jpg
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Thank you!
Melanie SwanFounder
DIYgenomics415-505-4426
@DIYgenomicswww.DIYgenomics.org
Slides: http://slideshare.net/LaBlogga/slideshows
Creative Commons 3.0 license
Collaborators:
Cindy Chen
Priya Kshirsagar
Lucymarie Mantese
Raymond McCauley
Marat Nepomnyashy
Roland Parnaso
Aaron Vollrath
Lawrence S. Wong