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Democratizing the genome


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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.

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Democratizing the genome

  1. 1. Democratizing the Genome Melanie Swan Founder DIYgenomics +1-650-681-9482 @DIYgenomics [email_address] June 12, 2010 H+ Summit, Harvard University Slides:
  2. 2. Summary <ul><li>DNA sequencing is moving faster than any other technology </li></ul><ul><li>Explosion in the amount of biological information </li></ul><ul><li>Citizen scientists are critical in discovering and implementing new findings </li></ul><ul><li>Tools are now available for genomic citizen scientists </li></ul>June 12, 2010 Image credit:
  3. 3. We are standing in a new era June 12, 2010 1999-2009: cost of DNA sequencing decreased 14,000x. April 1, 2010. Image credit: Dec. 14, 2009
  4. 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.
  5. 5. Confluence of factors shaping DIYgenomics June 12, 2010 1. Rapid declines in the cost of DNA sequencing <ul><li>4. Social movements: </li></ul><ul><li>DIYbio </li></ul><ul><li>Quantified Self </li></ul><ul><li>Open Science </li></ul>3. Web 2.0 and Social Networking 2. Big data era: 1 zettabyte
  6. 6. 3 rd and 4 th generation sequencing arrives June 12, 2010 3 rd Gen: Sequencing by Synthesis 2 nd Gen: Parallelized sequencing 1 st Gen: Sanger Sequencing 4 th Gen: Electronic Synthesis Sources:,,,
  7. 7. Unbounded opportunity: read and write DNA <ul><li>Synthetic cell created </li></ul><ul><li>Bacterial genome built from scratch and booted to life </li></ul>June 12, 2010 Image credit: May 22, 2010 Source: Gibson DG et al. Creation of a Bacterial Cell Controlled by a Chemically Synthesized Genome. Science. 2010 May 20.
  8. 8. DIYgenomics citizen science study structure June 12, 2010 <ul><li>Investigate genotype-phenotype linkage and apply interventions to improve phenotypic outcomes </li></ul>Genotype MTHFR SNPs: rs1801133 (A/G) rs1801131 (A/G) Phenotype Blood tests: B-12 and Homocysteine Intervention <ul><li>B-complex </li></ul><ul><li>L-methylfolate </li></ul><ul><li>B-complex + L-methylfolate </li></ul>Findings Analyze, explore, implement, share, and publish
  9. 9. 25+ DIYgenomics studies outlined <ul><li>Health genomics </li></ul><ul><ul><li>Aging (apply BU centenarian study findings) </li></ul></ul><ul><ul><li>Neuroplasticity </li></ul></ul><ul><ul><li>Cholesterol management </li></ul></ul><ul><ul><li>Cancer analysis </li></ul></ul><ul><ul><li>Macular degeneration </li></ul></ul><ul><li>Behavioral genomics </li></ul><ul><ul><li>Productivity, concentration and focus </li></ul></ul><ul><ul><li>Bully/victim predisposition </li></ul></ul><ul><ul><li>Orchid/dandelion personality predisposition </li></ul></ul><ul><ul><li>Risk-taking/novelty-seeking behavior </li></ul></ul>June 12, 2010 Source: Image credit:
  10. 10. Personal genome analysis tools June 12, 2010 <ul><li>Web & mobile apps: health risk and drug response </li></ul>Risk for top 20 Health Conditions Response to 250 Drugs Sample data CC TT A G CC TT
  11. 11. DIYgenomics Citizen Science – Join Us! <ul><li>Participate in a study </li></ul><ul><li>Organize a study on our platform </li></ul><ul><li>Contribute your data </li></ul><ul><li>Innovate blood tests 2.0 and interventions 2.0 (synthetic biology) </li></ul><ul><li>Become an ecosystem partner </li></ul>June 12, 2010 Image credit:
  12. 12. Thank you! Melanie Swan Founder DIYgenomics +1-650-681-9482 @DIYgenomics [email_address] Slides: 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