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Genomic self-hacking:  citizen science and the realization of personalized medicine Melanie Swan Genome Geek  650-681-9482 @DIYgenomics   www.DIYgenomics.org   [email_address] Quantified Self Meetup Group NASA AMES - July 19, 2011 Slides: http://slideshare.net/LaBlogga
Future health: layers of preventive medicine July 19, 2011 DIYgenomics.org Individual 2. Preventive Care Health Social Networks Citizen Science Studies Health Advisors 3. Traditional health care system and physicians 1. Automated digital health monitoring
New concept of health self-management  July 19, 2011 DIYgenomics.org 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.
Genome hacking philosophy July 19, 2011 DIYgenomics.org ,[object Object],[object Object],[object Object],[object Object],Source: http://diygenomics.pbworks.com/MTHFR Genotype Phenotype Intervention Outcome + + =
DTC genomics – interpretation variance July 19, 2011 DIYgenomics.org Private data upload: Marat Nepomnyashy; https://addons.mozilla.org/en-US/firefox/addon/156946
Open-source mobile apps (5,000+ downloads) ,[object Object],[object Object],[object Object],[object Object],July 19, 2011 DIYgenomics.org Android development: Michael Kolb, Lawrence S. Wong, Laura Klemme, Melanie Swan iPhone development: Ted Odet, Greg Smith, Laura Klemme, Melanie Swan “ genomics” “ genomics” T  T T T  T T T  C C
Vitamin B deficiency / MTHFR mutation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],July 19, 2011 DIYgenomics.org Source: http://diygenomics.pbworks.com/MTHFR
Homocysteine metabolism pathway July 19, 2011 DIYgenomics.org Source: Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for crowdsourced preventive medicine research. J Participat Med. 2010 Dec 23; 2:e20.
Vitamin B / MTHFR study protocol July 19, 2011 DIYgenomics.org ,[object Object],[object Object],Source: http://diygenomics.pbworks.com/MTHFR 1. Genotype MTHFR gene SNPs: rs1801133 (A/G) rs1801131 (A/G) 2. Phenotype Blood tests:  B-12 and Homocysteine 3. Intervention ,[object Object],[object Object],[object Object],[object Object]
Vitamin B / MTHFR pilot study results July 19, 2011 DIYgenomics.org ,[object Object],Blood Test # 2. Homocysteine levels DIYgenomics MTHFR Vitamin B deficiency study 1 1. Genotype profiles Baseline LMF Source: Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for crowdsourced preventive medicine research. J Participat Med. 2010 Dec 23; 2:e20.   1 Results are not statistically significant and are intended as a pilot demonstration of citizen science genomic studies Baseline + LMF Centrum  Homocysteine umol/l Centrum  LMF = L-methylfolate
Athletic performance July 19, 2011 DIYgenomics.org 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. Jan 2011. 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
Preventive wellness ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],July 19, 2011 DIYgenomics.org
Predictive wellness profiling: cancer ,[object Object],July 19, 2011 DIYgenomics.org Source: DIYgenomics Image credit: http://utmb.edu TP53:  cell cycle arrest, PTEN: cell cycle progression modulator, MYC: cell cycle regulator
Lung cancer risk and drug response ,[object Object],July 19, 2011 DIYgenomics.org Source: Swan, M. Review of cancer risk prediction in direct-to-consumer genomic services. (poster) Canary Foundation Early Detection Symposium, May 25-27, 2010, Stanford University, Stanford CA. Image credit: http://www.xianet.net
Wellness profiling: immune system ,[object Object],[object Object],[object Object],July 19, 2011 DIYgenomics.org Source: DIYgenomics Image credit: http://www.iayork.com CTLA4: T-cell inhibition; IL3: growth-promoting cytokine
Aging: TA-65, telomere length & TERC mutation July 19, 2011 DIYgenomics.org ,[object Object],[object Object],[object Object],1 Source: Harley CB, et al. A natural product telomerase activator as part of a health maintenance program. Rejuvenation Res. 2011 Feb;14(1):45-56.
Aging: applied healthspan engineering July 19, 2011 DIYgenomics.org Source: Larrick JW, Mendelsohn A. Applied Healthspan engineering. Rejuvenation Res. 2010 Apr-Jun;13(2-3):265-80, Table 2.   Legend: ACE, angiotensin converting enzyme; ARBs, angiotensin receptor blockers; EGCG, epigallocatechin 3-gallate; mTOR, mammalian target of rapamycin.
Personal health collaboration studies July 19, 2011 DIYgenomics.org More information: www.DIYgenomics.org  www.DIYgenomics.org/DIYgenomics_poster.ppt
Study design template: MTHFR example July 19, 2011 DIYgenomics.org Source:  http://diygenomics.pbworks.com/ http://diygenomics.pbworks.com/w/file/36469280/DIYgenomics+study+design+template+blank.doc Cyanocobalamin Image credit: http://wikimedia.org
Health hackers need Blood Tests 2.0 ,[object Object],[object Object],[object Object],[object Object],[object Object],July 19, 2011 DIYgenomics.org
Towards an epistemology of citizen science ,[object Object],[object Object],[object Object],July 19, 2011 DIYgenomics.org

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Genomic self-hacking: citizen science and the realization of personalized medicine

  • 1. Genomic self-hacking: citizen science and the realization of personalized medicine Melanie Swan Genome Geek 650-681-9482 @DIYgenomics www.DIYgenomics.org [email_address] Quantified Self Meetup Group NASA AMES - July 19, 2011 Slides: http://slideshare.net/LaBlogga
  • 2. Future health: layers of preventive medicine July 19, 2011 DIYgenomics.org Individual 2. Preventive Care Health Social Networks Citizen Science Studies Health Advisors 3. Traditional health care system and physicians 1. Automated digital health monitoring
  • 3. New concept of health self-management July 19, 2011 DIYgenomics.org 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.
  • 4.
  • 5. DTC genomics – interpretation variance July 19, 2011 DIYgenomics.org Private data upload: Marat Nepomnyashy; https://addons.mozilla.org/en-US/firefox/addon/156946
  • 6.
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  • 8. Homocysteine metabolism pathway July 19, 2011 DIYgenomics.org Source: Swan, M., Hathaway, K., Hogg, C., McCauley, R., Vollrath, A. Citizen science genomics as a model for crowdsourced preventive medicine research. J Participat Med. 2010 Dec 23; 2:e20.
  • 9.
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  • 11. Athletic performance July 19, 2011 DIYgenomics.org 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. Jan 2011. 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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  • 17. Aging: applied healthspan engineering July 19, 2011 DIYgenomics.org Source: Larrick JW, Mendelsohn A. Applied Healthspan engineering. Rejuvenation Res. 2010 Apr-Jun;13(2-3):265-80, Table 2. Legend: ACE, angiotensin converting enzyme; ARBs, angiotensin receptor blockers; EGCG, epigallocatechin 3-gallate; mTOR, mammalian target of rapamycin.
  • 18. Personal health collaboration studies July 19, 2011 DIYgenomics.org More information: www.DIYgenomics.org www.DIYgenomics.org/DIYgenomics_poster.ppt
  • 19. Study design template: MTHFR example July 19, 2011 DIYgenomics.org Source: http://diygenomics.pbworks.com/ http://diygenomics.pbworks.com/w/file/36469280/DIYgenomics+study+design+template+blank.doc Cyanocobalamin Image credit: http://wikimedia.org
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