Genomic self-hacking: citizen science and the realization of personalized medicine
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The document discusses genomic self-hacking and citizen science in personalized medicine, highlighting the significance of preventive health through self-management and genetic insights. It presents various studies on health-related gene variants, particularly focusing on the MTHFR gene and its impact on vitamin B metabolism, alongside pilot study results indicating reduced homocysteine levels. The author advocates for the use of citizen science to further explore genomic data and its relevance in individual health profiling, drug response, and athletic performance.
![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](https://image.slidesharecdn.com/swangenomehackingqs-110719015959-phpapp02/85/Genomic-self-hacking-citizen-science-and-the-realization-of-personalized-medicine-1-320.jpg)
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. Genome hacking philosophy July 19, 2011 DIYgenomics.org Goal: preventive medicine Realize preventive medicine by establishing baseline markers of wellness and pre-clinical interventions Generalized hypothesis One or more polymorphisms may result in out-of-bounds baseline levels of phenotypic markers. These levels may be improved through personalized intervention. Source: http://diygenomics.pbworks.com/MTHFR Genotype Phenotype Intervention Outcome + + =
- 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. Open-source mobile apps (5,000+ downloads) Health condition, drug response, athletic performance 23andMe data upload Android iPhone 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
- 7. Vitamin B deficiency / MTHFR mutation Do common mutations in the MTHFR gene prevent vitamin B from working correctly? Test whether 2 variations in the MTHFR gene keep vitamin B9 (folic acid) from being metabolized into its active form (folate) rs1801133/C677T rs1801131/A1298C Without this form of vitamin B, homocysteine may accumulate (risk of cardiovascular disease, etc.) 50% or more of the population may have some form of MTHFR polymorphism July 19, 2011 DIYgenomics.org Source: http://diygenomics.pbworks.com/MTHFR
- 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. Vitamin B / MTHFR study protocol July 19, 2011 DIYgenomics.org Investigate genotype-phenotype linkage and apply interventions to improve phenotypic outcomes Protocol confirmed with two separate experts in the field 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 (2 week periods) B-complex L-methylfolate B-complex + L-methylfolate
- 10. Vitamin B / MTHFR pilot study results July 19, 2011 DIYgenomics.org Drug store vitamin (Centrum) reduced homocysteine levels for 6/7 participants 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
- 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
- 12. Preventive wellness Personal uses of the personal genome Ancestry Carrier status Disease risk profiling Drug response Athletic performance capability Product response Wellness profiling Cancer Immune system Aging July 19, 2011 DIYgenomics.org
- 13. Predictive wellness profiling: cancer Proto-oncogene/tumor suppressor gene polymorphisms 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
- 14. Lung cancer risk and drug response Risk and drug response for specific cancers 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
- 15. Wellness profiling: immune system Immune system genomic wellness profiling Immune response: T-cell activation CTLA4, CD226, CD86, IL3 July 19, 2011 DIYgenomics.org Source: DIYgenomics Image credit: http://www.iayork.com CTLA4: T-cell inhibition; IL3: growth-promoting cytokine
- 16. Aging: TA-65, telomere length & TERC mutation July 19, 2011 DIYgenomics.org Herbal supplement TA-65 (astragalus root) taken by 1000 people worldwide. Telomere and immune system benefits in humans published Mar 2011. 1 TERC (RNA gene that extends telomeres) SNPs: rs10511887, rs12696304, rs16847897, rs2293607, rs610160 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.
- 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
- 20. Health hackers need Blood Tests 2.0 Low-cost home-administered self-read finger-stick blood, urine, saliva tests: Traditional blood tests (Homocysteine, Vitamin B-12, Folate, Vitamin D, Creatinine, eGFR, Cortisol, Calcium, Iron, Aldosterone) Hormones (Estrogen, Progesterone, Testosterone, Estradiol) Immune system: CD4, CD8/CD28 ratio, IL-1, IL-6 Chemical / h eavy metal burden: mercury, cadmium, lead, tin July 19, 2011 DIYgenomics.org
- 21. Towards an epistemology of citizen science Provide a structure and context for self-derived health knowledge Q1: Are new kinds of knowledge are being formed through group collaborations such as wikipedia and health social networks? Q2: Are there differences in the types of knowledge generated by traditional medicine, self-experimentation, and health collaboration communities? July 19, 2011 DIYgenomics.org