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Democratizing The Genome - Melanie Swan - H+ Summit @ Harvard

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.

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Democratizing The Genome - Melanie Swan - H+ Summit @ Harvard

  1. 1. Democratizing the Genome Melanie Swan Founder DIYgenomics 415-505-4426 June 12, 2010 H+ Summit, Harvard University @DIYgenomics Slides:
  2. 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: June 12, 2010
  3. 3. We are standing in a new era 1999-2009: cost of DNA sequencing Image credit: decreased 14,000x. April 1, 2010. Dec. 14, 2009 June 12, 2010
  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 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
  6. 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:, Features/WTX056032.htm,,
  7. 7. Unbounded opportunity: read and write DNA  Synthetic cell created  Bacterial genome built from scratch and booted to life Image credit: 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.
  8. 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
  9. 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:  Orchid/dandelion personality predisposition  Risk-taking/novelty-seeking behavior June 12, 2010 Source:
  10. 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
  11. 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: June 12, 2010
  12. 12. Collaborators: Raymond McCauley Lucymarie Mantese Marat Nepomnyashy Roland Parnaso Aaron Vollrath Lawrence S. Wong Thank you! Melanie Swan Founder Slides: DIYgenomics 415-505-4426 @DIYgenomics Creative Commons 3.0 license