Exponential declines in the cost of human genome sequencing is starting to put applications in the hands of researchers and consumers that were only dreamt of previously. Individuals are starting to have access to their own genomic data which can be actionable in a variety of ways including drug response, health condition analysis, athletic capability, and ancestry. DIYgenomics is a new platform bringing citizen scientists together to run peer cohort research studies and conduct novel research linking genetic data and physical biomarkers. Some norms are developing in response to the variety of community-based research issues that arise such as adaptive studies, informed consent, security, anonymity, and study design. Melanie Swan is a genomics researcher, hedge fund manager, and leader in the Health 2.0 movement. Recent publications include “Multigenic Condition Risk Assessment in Direct-to-Consumer Genomic Services,” “Engineering Life into Technology,” and “Emerging Patient-Driven Health Care Models.” She serves as an advisor to research foundations, government agencies, corporations, and startups. Melanie has an MBA from the Wharton School of the University of Pennsylvania and a BA from Georgetown University. She is an advisor and faculty member at Singularity University.

1. Democratizing the Genome
Melanie Swan
Founder
DIYgenomics
415-505-4426
June 12, 2010 H+ Summit, Harvard University @DIYgenomics
www.DIYgenomics.org
Slides: http://slideshare.net/LaBlogga/slideshows studies@DIYgenomics.org

2. Summary
 DNA sequencing is moving faster than
any other technology
 Explosion in the amount of biological
information
 Citizen scientists are critical in
discovering and implementing new
findings
 Tools are now available for genomic
citizen scientists
Image credit: http://www-nmr.cabm.rutgers.edu/photogallery/proteins/gif/dna.gif
June 12, 2010
DIYgenomics.org

3. We are standing in a new era
1999-2009: cost of DNA sequencing Image credit: http://pubs.acs.org/cen/_img/87/i50/8750cover2_law.gif
decreased 14,000x. April 1, 2010. Dec. 14, 2009
June 12, 2010
DIYgenomics.org

4. A new construct of biocitizen identity
June 12, 2010 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.
DIYgenomics.org

5. Confluence of factors shaping DIYgenomics
1. Rapid declines in
2. Big data era:
the cost of DNA
1 zettabyte
sequencing
4. Social
movements:
3. Web 2.0 and
• DIYbio
Social Networking
• Quantified Self
• Open Science
June 12, 2010
DIYgenomics.org

6. 3rd and 4th generation sequencing arrives
1st Gen: Sanger Sequencing 3rd Gen: Sequencing by Synthesis
2nd Gen: Parallelized sequencing 4th Gen: Electronic Synthesis
June 12, 2010 Sources: http://www.genomicseducation.ca/files/images/information_articles/sequencing.gif, http://www.wellcome.ac.uk/News/2009/
DIYgenomics.org Features/WTX056032.htm,
http://www.pacificbiosciences.com/video_lg.html, http://www.nanoporetech.com/sequences

7. Unbounded opportunity: read and write DNA
 Synthetic cell 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
June 12, 2010 Source: Gibson DG et al. Creation of a Bacterial Cell Controlled by a Chemically Synthesized Genome. Science. 2010 May 20.
DIYgenomics.org

8. DIYgenomics citizen science study structure
 Investigate genotype-phenotype linkage and apply
interventions to improve phenotypic outcomes
Genotype Phenotype Intervention Findings
MTHFR SNPs: Blood tests: 1. B-complex Analyze, explore,
implement,
rs1801133 (A/G) B-12 and 2. L- share, and
methylfolate publish
rs1801131 (A/G) Homocysteine
3. B-complex +
L-
methylfolate
June 12, 2010
DIYgenomics.org

9. 25+ DIYgenomics studies outlined
 Health genomics
 Aging (apply BU centenarian study findings)
 Neuroplasticity
 Cholesterol management
 Cancer analysis
 Macular degeneration
 Behavioral genomics
 Productivity, concentration and focus
 Bully/victim predisposition Image credit: http://www.tigerteamconsulting.com/TTC_Site/sectors_binf.jsp
 Orchid/dandelion personality predisposition
 Risk-taking/novelty-seeking behavior
June 12, 2010 Source: http://diygenomics.pbworks.com
DIYgenomics.org

10. Personal genome analysis tools
 Web & mobile apps: health risk and drug response
Risk for top 20 Health Conditions
Response to 250 Drugs
Sample data
CC
TT
AG
CC
TT
June 12, 2010
DIYgenomics.org

11. 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)
 Become an ecosystem partner
Image credit: http://www.uchsc.edu/vivat/2006/September2006/images/DNA_strand.jpg
June 12, 2010
DIYgenomics.org

12. Collaborators:
Raymond McCauley
Lucymarie Mantese
Marat Nepomnyashy
Roland Parnaso
Aaron Vollrath
Lawrence S. Wong Thank you!
Melanie Swan
Founder
Slides: http://slideshare.net/LaBlogga/slideshows DIYgenomics
415-505-4426
@DIYgenomics
www.DIYgenomics.org
Creative Commons 3.0 license studies@DIYgenomics.org