Embed Size (px)
DESCRIPTION
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.
Citation preview
Democratizing the GenomeMelanie Swan
FounderDIYgenomics
415-505-4426@DIYgenomics
www.DIYgenomics.org [email protected]
June 12, 2010 H+ Summit, Harvard UniversitySlides: http://slideshare.net/LaBlogga/slideshows
June 12, 2010DIYgenomics.org
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, 2010DIYgenomics.org
We are standing in a new era
1999-2009: cost of DNA sequencing decreased 14,000x. April 1, 2010.
Image credit: http://pubs.acs.org/cen/_img/87/i50/8750cover2_law.gif Dec. 14, 2009
June 12, 2010DIYgenomics.org
A new construct of biocitizen identity
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.
June 12, 2010DIYgenomics.org
1. Rapid declines in the cost of DNA
sequencing
Confluence of factors shaping DIYgenomics
4. Social movements:
• DIYbio• Quantified Self• Open Science
3. Web 2.0 and Social Networking
2. Big data era:1 zettabyte
June 12, 2010DIYgenomics.org
3rd and 4th generation sequencing arrives3rd Gen: Sequencing by Synthesis
2nd Gen: Parallelized sequencing
1st Gen: Sanger Sequencing
4th Gen: Electronic Synthesis
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
June 12, 2010DIYgenomics.org
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
Source: Gibson DG et al. Creation of a Bacterial Cell Controlled by a Chemically Synthesized Genome. Science. 2010 May 20.
June 12, 2010DIYgenomics.org
DIYgenomics citizen science study structure
Genotype
MTHFR 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
June 12, 2010DIYgenomics.org
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 Orchid/dandelion personality predisposition Risk-taking/novelty-seeking behavior
Source: http://diygenomics.pbworks.com
Image credit: http://www.tigerteamconsulting.com/TTC_Site/sectors_binf.jsp
June 12, 2010DIYgenomics.org
Personal genome analysis tools
Sample data
CCTTAGCCTT
Web & mobile apps: health risk and drug responseRisk for top 20 Health Conditions
Response to 250 Drugs
June 12, 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)
Become an ecosystem partnerImage credit: http://www.uchsc.edu/vivat/2006/September2006/images/DNA_strand.jpg
Thank you!
Melanie SwanFounder
DIYgenomics415-505-4426
@DIYgenomicswww.DIYgenomics.org
Slides: http://slideshare.net/LaBlogga/slideshows
Creative Commons 3.0 license
Collaborators:
Raymond McCauley
Lucymarie ManteseMarat NepomnyashyRoland ParnasoAaron VollrathLawrence S. Wong
