Democratizing the genome

Democratizing the Genome Melanie Swan Founder DIYgenomics +1-650-681-9482 @DIYgenomics www.DIYgenomics.org [email_address] June 12, 2010 H+ Summit, Harvard University Slides: http://slideshare.net/LaBlogga/slideshows

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
June 12, 2010 DIYgenomics.org Image credit: http://www-nmr.cabm.rutgers.edu/photogallery/proteins/gif/dna.gif

We are standing in a new era June 12, 2010 DIYgenomics.org 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

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

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

3 rd and 4 th generation sequencing arrives June 12, 2010 DIYgenomics.org 3 rd Gen: Sequencing by Synthesis 2 nd Gen: Parallelized sequencing 1 st Gen: Sanger Sequencing 4 th 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

Unbounded opportunity: read and write DNA
Synthetic cell created
Bacterial genome built from scratch and booted to life
June 12, 2010 DIYgenomics.org 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.

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

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
June 12, 2010 DIYgenomics.org Source: http://diygenomics.pbworks.com Image credit: http://www.tigerteamconsulting.com/TTC_Site/sectors_binf.jsp

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

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
June 12, 2010 DIYgenomics.org Image credit: http://www.uchsc.edu/vivat/2006/September2006/images/DNA_strand.jpg

Thank you! Melanie Swan Founder DIYgenomics +1-650-681-9482 @DIYgenomics www.DIYgenomics.org [email_address] Slides: http://slideshare.net/LaBlogga/slideshows Creative Commons 3.0 license Collaborators: Raymond McCauley Lucymarie Mantese Marat Nepomnyashy Roland Parnaso Aaron Vollrath Lawrence S. Wong Crowd-sourced clinical trials Personal genome apps

Democratizing the genome

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