Democratizing the genome

Democratizing the Genome

Melanie Swan Founder

DIYgenomics+1-650-681-9482

@DIYgenomics www.DIYgenomics.org

[email protected]

June 12, 2010 H+ Summit, Harvard University

Slides: http://slideshare.net/LaBlogga/slideshows

2June 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


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


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.


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


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


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.


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


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


Personal genome analysis tools

Sample data

CCTTAGCCTT

Web & mobile apps: health risk and drug response

Risk for top 20 Health Conditions

Response to 250 Drugs


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

DIYgenomics+1-650-681-9482

@DIYgenomicswww.DIYgenomics.org

[email protected]

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 trialsPersonal genome apps

Democratizing the genome

Technology

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