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Personal health citzenship

Personal health citzenship. Doug Melton ’s son, Sam, has diabetes. Huntington's Chorea Nancy Wexler ’s family. Adrenoleukodystrophy Augusto Odone ’s son. Cancer, substance abuse Betty Ford. Parkison’s Disease Michael J. Fox. Hugh Rienhoff. PersonalGenome.org.

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Personal health citzenship

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  1. Personal health citzenship DougMelton’s son, Sam, has diabetes Huntington's Chorea NancyWexler’s family Adrenoleukodystrophy AugustoOdone’s son Cancer, substance abuse BettyFord Parkison’s Disease Michael J. Fox Hugh Rienhoff PersonalGenome.org

  2. PersonalGenome.org Project Goals 1) Active subject participation, informed redactions 2) Entrance exam to ensure highly informed consent 3) Subject & public access (not just research elite) 4) Eliminate over-promising de-identification 5) Scaleable to millions of research subjects, via inexpensive DNA/trait data, donations 6) Highly integrated, holistic, systems-biology7) Subjects informed enough to “opt-out” 8) Life-impacting info can reach subjects 9) Cells available for personal functional genomics

  3. Reducing costs via open-sourcehardware, software, wetware, ELSware • Factor • 30 Equipmentspeed: from 1 up to 30 Mpixels/sec camera • 4 Equipment cost: from $500K down to $124K (Danaher Inc) • 36 Parallelism: 36 flow-cells per camera, 60M beads each • 15 Flow cell volume: 1.5 mm down to 0.01 or 0.02 mm • 40 Kit costs: $2000 down to $50 at standard enzyme costs • 10 Enzymes: $4000/mg down to <$400 (Enzymatics Inc) • 50 Genomic subset enrichment (Exome – 1% genome) Error rate: 3E-7 at >=3X coverage PersonalGenome.org

  4. A G C T Multiplex Cyclic Sequencing by Synthesis (Next-gen, polonies on slides or beads) Polymerase -or- Ligase Shendure, Porreca, et al. 2005 Science Mitra, et al. 2003 Analyt. Biochem. 1999 NAR AB-SOLiD, CGI Illumina, IBS PersonalGenome.org

  5. G.007 Hardware open-CAD Xenon Light EM-CCD Camera Fluidics Autofocus Objective Stage 3U Imaging 2U Sequencing 30 msec move/settle 42 kbp/sec 10-60 Gbp/run $124,000

  6. G.007-Hardware Nikon, Hamamatsu, Alcott, Prior, Sutter, Bioptechs, PI, Uniblitz, Superlogics Shendure, Porreca et al. 2005 Danaher, Hamamatsu, Nikon $124K with computer & 1 yr service Contact: kevin.mccarthy@danahermotion.com Rich Terry et al. 2007 DIY PersonalGenome.org

  7. 36 Flowcells G007 PersonalGenome.org

  8. Higher density & accuracy Glass array, 60M beads Kim, Porreca et al. 2007 Gel array, 12M beads Shendure, Porreca et al. 2005 12M reads (M. Umbarger) 1.6M reads

  9. PGP & G.007 Monthly reagent usage PersonalGenome.org

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