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Future of Health: Overview of  Participant-driven Research and Medicine Melanie Swan  Founder DIYgenomics +1-650-681-9482 @DIYgenomics   www.DIYgenomics.org   [email_address] 37th health seminar "Patient-driven research and medicine" November 10, 2011, Lausanne Switzerland Slides: http://slideshare.net/LaBlogga
About Melanie Swan ,[object Object],[object Object],[object Object],[object Object],[object Object],Source: http://melanieswan.com/publications.htm ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Top 10 list of participative health initiatives Personal health records Microbiomics Whole human genome sequencing Health social networks Personalized genomics Crowdsourced health studies Blood tests 2.0 Automated self-tracking devices Health advisor Social media 2020+ 2010 2015 Image credit: http://www.dreamstime.com Smartphone health apps
Agenda ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Image credit: Natasha Vita-More, Primo Posthuman
Information transmission eras Painting, scrolls Press, Transistor DNA Analog Digital Life code ? ? 2000-2100 1455&1950-2000 17,300 years ago 2100+
Biology is an information technology DNA sequencing: 10x/yr improvement Image credit: http://pubs.acs.org/cen/_img/87/i50/8750cover2_law.gif I hate you 010010010010000001101 0 000110 000 1011101000110010100100000011110010110111101110101 I love you 01001001001000000110110001101111011101100110010100100000011110010110111101110101

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Participant driven-health

  • 1. Future of Health: Overview of Participant-driven Research and Medicine Melanie Swan Founder DIYgenomics +1-650-681-9482 @DIYgenomics www.DIYgenomics.org [email_address] 37th health seminar "Patient-driven research and medicine" November 10, 2011, Lausanne Switzerland Slides: http://slideshare.net/LaBlogga
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  • 3. Top 10 list of participative health initiatives Personal health records Microbiomics Whole human genome sequencing Health social networks Personalized genomics Crowdsourced health studies Blood tests 2.0 Automated self-tracking devices Health advisor Social media 2020+ 2010 2015 Image credit: http://www.dreamstime.com Smartphone health apps
  • 4.
  • 5. Information transmission eras Painting, scrolls Press, Transistor DNA Analog Digital Life code ? ? 2000-2100 1455&1950-2000 17,300 years ago 2100+
  • 6. Biology is an information technology DNA sequencing: 10x/yr improvement Image credit: http://pubs.acs.org/cen/_img/87/i50/8750cover2_law.gif I hate you 010010010010000001101 0 000110 000 1011101000110010100100000011110010110111101110101 I love you 01001001001000000110110001101111011101100110010100100000011110010110111101110101
  • 7. Biology is the information technology Image credit: J. Craig Venter Institute Image credit: Anthony Atala lab Image credit: Thomas Matthiesen Artificial cell booted to life Algal biofuel Image credit: http://www.rexresearch.com Whole organ decellularization and recellularization (heart) Organ regeneration (urethra) DNA nanotechnology latch box for drug delivery Image credit: Aarhus University
  • 8. Rising worldwide health care costs Source: http://www.kff.org/insurance/snapshot/OECD042111.cfm
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  • 14. Participative health activities Image credit: Getty Images (Light) Level of Engagement (Heavy) Social media Mobile health apps PHRs (personal health records) Consumer genomics Health social networks and crowd-sourced health studies
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  • 17. Social media health tech: Physician consultation and review Image credit: http://www.americanwell.com Image credit: http://www.3gdoctor.com Image credit: http://www.webicina.com
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  • 22. Health social networks and collaboration 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. Health collaboration communities Health social networks (global & local)
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  • 27. Direct-to-consumer genomics: 23andMe Source: http://www.23andme.com; open source genomes http://www.snpedia.com/index.php/Genomes 1,000,000 SNPs scanned and mapped to 214 conditions
  • 28. 23andMe colorectal cancer marker Source: http://www.23andme.com
  • 29. 23andMe colorectal cancer marker Source: http://www.23andme.com
  • 30. Pathway Genomics drug response Source: http://www.pathway.com
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  • 36. Athletic performance Source: http://www.genome.duke.edu/education/seminars/journal-club/documents/Assael_2009.pdf
  • 37. Athletic performance Image credit: http://www.istockphoto.com V = number of variants; % = ratio of favorable polymorphisms to total alleles for a sample individual; S = number of studies Source: Swan, M. Applied genomics: personalized interpretation of athletic performance GWAS. 2011 . Submitted. Category Genes V % S Endurance, power, and energy Endurance ACE, ACTN3, ADRB2/ ADRB3, BDKRB2, COL5A1, GNB3 7 50 22 Power ACE, ACTN3, AGT 3 50 8 Energy HIF1A, PPARGC1A 3 25 9 Musculature, and heart and lung capacity Muscle fatigue and repair HNF4A, NAT2 and IL-1B 5 40 4 Strength HFE, HIF1A, IGF1, MSTN GDF8 5 17 15 Heart and lung capacity CREB1, KIF5B, NOS3, NPY and ADRB1, APOE, NRF1 9 36 11 Metabolism, recovery, and other   Metabolism AMPD1, APOA1, PPARA, PPARD 5 50 9 Recovery CKMM/CKM, IL6 2 50 5 Ligament and tendon strength  Ligament strength COL1A1, COL5A1, CILP 3 50 4 Tendon strength COL1A1, COL5A1, GDF5, MMP3 7 63 5
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  • 54. Genomera ‘eBay of health studies’ Nov 2011: 300+ community members, 20 studies with 10-65 enrollees Site access through www.DIYgenomics.org
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  • 63.
  • 64. Professionalizing participative health: innovating the research model Institutional PI (principal investigator) Traditional Research Model Patient-organized Research Model Research subjects Citizen scientists Investigators = Participants Institutional Review Board (IRB) IRBs, FAQs, Citizen ethicists Grant funding Journal publication Self publishing Patient advocacy groups Research foundations Social VC Crowd-sourcing
  • 65. Professionalizing participative health: the CRO 1 2.0 ecosystem 1 CRO – contract research organization (outsourced operator of clinical trials and health studies) Source: Swan, M. Professionalizing citizen science health studies: the emergence of a new form of contract research organization. 2011. Submitted.
  • 66.
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  • 70. Study design template: Vitamin B deficiency Source: http://diygenomics.pbworks.com http://diygenomics.pbworks.com/w/file/36469280/DIYgenomics+study+design+template+blank.doc Cyanocobalamin Image credit: http://wikimedia.org
  • 71.
  • 72. Role of participative health: future medicine Individual 2. Peer collaboration and health advisors Health social networks, crowdsourced studies, health advisors, wellness coaches, preventive care plans, boutique physicians, genetics coaches, aestheticians, medical tourism 3. Public health system Deep expertise of traditional health system for disease and trauma treatment 1. Continuous health information climate Automated digital health monitoring, self-tracking devices, and mobile apps providing personalized recommendations 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.
  • 73.
  • 74. Top 10 list of participative health initiatives Personal health records Microbiomics Whole human genome sequencing Health social networks Personalized genomics Crowdsourced health studies Blood tests 2.0 Automated self-tracking devices Health advisor Social media 2020+ 2010 2015 Image credit: http://www.dreamstime.com Smartphone health apps
  • 75.
  • 76.
  • 77. Merci! Melanie Swan Founder DIYgenomics +1-650-681-9482 @DIYgenomics www.DIYgenomics.org [email_address] Slides: http://slideshare.net/LaBlogga Creative Commons 3.0 license Collaborators: Lorenzo Albanello Janet Chang Cindy Chen John Furber Hong Guo Kristina Hathaway Laura Klemme Priya Kshirsagar Lucymarie Mantese Raymond McCauley Marat Nepomnyashy Ted Odet Roland Parnaso Thomas Pickard William Reinhardt Greg Smith Aaron Vollrath Lawrence S. Wong International collaborations: JST and Rikengenesis Takashi Kido Minae Kawashima Jin Yamanaka University Hospitals of Geneva Louis Nahum Armin Schnider Personal genome apps Crowd-sourced clinical trials
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  • 81. Era of 3 rd and 4 th -gen genome sequencing 3 rd Gen: Sequencing by Synthesis 2 nd Gen: Parallelized sequencing 1 st Gen: Sanger Sequencing 4 th Gen: Electronic Sequencing 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