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DNA Testing: Living Longer Via Personal Genomics Melanie Swan +1-650-681-9482 @DIYgenomics   www.DIYgenomics.org   [email_address] October 10, 2010 Slides: http://slideshare.net/LaBlogga
Numerous useful applications of genomics ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],October 10, 2010 DIYgenomics.org Image credit: http://www.uchsc.edu/vivat/2006/September2006/images/DNA_strand.jpg
Example: what to do with your data ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],October 10, 2010 DIYgenomics.org Source: http://www.wired.com/wiredscience/2009/10/genetically-bad-driving 1 Ribeiro, L. et. Al., The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans. Cellular, Molecular and Developmental Neuroscience. May 8, 2007.
Finding your BDNF data, variant rs6265 October 10, 2010 DIYgenomics.org ,[object Object]
Conflicting consumer genomic test results October 10, 2010 DIYgenomics.org Source: http://dnasnips.com/dnaSnips/Heart.html
DIYgenomics: genomic service comparison October 10, 2010 DIYgenomics.org ,[object Object],[object Object],[object Object],[object Object],Risk for top 20 Health Conditions Response to 250 Drugs  Source: Swan, M. Multigenic Condition Risk Assessment in Direct-to-Consumer Genomic Services. Genet. Med.  2010 , May;12(5):279-8 .  http://www.diygenomics.org/webapp/gen_data.php Private data upload: Marat Nepomnyashy; https://addons.mozilla.org/en-US/firefox/addon/156946/
DIYgenomics app - Android ,[object Object],October 10, 2010 DIYgenomics.org Application developed by: Michael Kolb, Lawrence S. Wong, Melanie Swan
DIYgenomics app - iPhone October 10, 2010 DIYgenomics.org ,[object Object],Application developed by: Ted Odet, Greg Smith (ManyFriends.com)
Drug response October 10, 2010 DIYgenomics.org
Athletic performance ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],October 10, 2010 DIYgenomics.org http://www.genome.duke.edu/education/seminars/journal-club/documents/Assael_2009.pdf   More information: DIYgenomics.org Athletic Performance
DIYgenomics study #1: MTHFR ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],October 10, 2010 DIYgenomics.org Source: http://diygenomics.pbworks.com/MTHFR
MTHFR pathway diagram October 10, 2010 DIYgenomics.org Aaron Vollrath; http://bit.ly/cHRzS8 Legend: where interventions impact the pathway 1  = Regular B-vitamin 2  = Active form of B9 (folate)
DIYgenomics MTHFR study protocol October 10, 2010 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]
MTHFR pilot study results October 10, 2010 DIYgenomics.org ,[object Object],Blood Test # 2. Homocysteine levels DIYgenomics MTHFR citizen science study 1 1. Genotype profiles Baseline LMF Source: http://diygenomics.pbworks.com/MTHFR_Results 1 Results are not statistically significant and are intended as a pilot demonstration of citizen science as a model Baseline + LMF Centrum  Homocysteine umol/l Centrum
Boston University: Genetic Signatures of Exceptional Longevity in Humans October 10, 2010 DIYgenomics.org Source: Sebastiani P et al. Genetic Signatures of Exceptional Longevity in Humans. Science. 2010 Jul 21.  http://diygenomics.org/citizengenomics/bu_longevity.php
DIYgenomics aging study ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],October 10, 2010 DIYgenomics.org More information: http://diygenomics.pbworks.com/Aging Image credit: http://www-nmr.cabm.rutgers.edu
DNA sequencing: 10x/yr improvement October 10, 2010 DIYgenomics.org April 1, 2010  Image credit: http://pubs.acs.org/cen/_img/87/i50/8750cover2_law.gif Dec. 14, 2009
Direct-to-Consumer genomics landscape October 10, 2010 DIYgenomics.org Single/few condition Multiple condition  Whole genome Cost 1 Medical condition $9,500 Service Breadth Public studies  Matchmaking ScientificMatch $1,995 GenePartner $10-$99 Paternity Genelex $200-$475 Identigene $149-$399 Pregnancy Screening Counsyl $349 Nutrigenomics APO E Gene Diet $389 Inherent Health $99 Coriell 15 conditions Scripps (Navigenics) 28 conditions Pers. Genome Proj. Conditions undisclosed Harvard Med. Sch. Genetic disorders, Predisposition DNA Direct $200-$3,500 Matrix Genomics $199-$799 Drug sensitivity, $ Exome 23andme 174 conditions Navigenics* 40 conditions deCODEme 49 conditions $1,000 $429 $299 Genomics 71 conditions Pathway*  $2,500 $999 $2,000 $985 *Must be physician-ordered Knome EdgeBio $6,000 $19,500 Knome Illumina $48,000 $350,000 $99,500 $68,500 $20,000 1 $39,500
Genomics comparison scorecard October 10, 2010 DIYgenomics.org 1 Conditions, genes, variants, underlying research references, and methodology white paper(s) available on public website ,[object Object],Consumer genomic service # Cond-itions Cost Report Data access Visible research quality 1 Updates deCODEme 49 $2,000  +   +  + 23andme 174 $429     Navigenics 40 $999    Pathway Genomics 71 $299  Coriell 7-15 public study PGP (Personal Genome Project) n/a public study
Melanie Swan +1-650-681-9482  @DIYgenomics www.DIYgenomics.org [email_address] Slides: http://slideshare.net/LaBlogga Creative Commons 3.0 license Thank you!   Questions?

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DNA Testing: Living Longer Via Personal Genomics

  • 1. DNA Testing: Living Longer Via Personal Genomics Melanie Swan +1-650-681-9482 @DIYgenomics www.DIYgenomics.org [email_address] October 10, 2010 Slides: http://slideshare.net/LaBlogga
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  • 5. Conflicting consumer genomic test results October 10, 2010 DIYgenomics.org Source: http://dnasnips.com/dnaSnips/Heart.html
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  • 9. Drug response October 10, 2010 DIYgenomics.org
  • 10.
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  • 12. MTHFR pathway diagram October 10, 2010 DIYgenomics.org Aaron Vollrath; http://bit.ly/cHRzS8 Legend: where interventions impact the pathway 1 = Regular B-vitamin 2 = Active form of B9 (folate)
  • 13.
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  • 15. Boston University: Genetic Signatures of Exceptional Longevity in Humans October 10, 2010 DIYgenomics.org Source: Sebastiani P et al. Genetic Signatures of Exceptional Longevity in Humans. Science. 2010 Jul 21. http://diygenomics.org/citizengenomics/bu_longevity.php
  • 16.
  • 17. DNA sequencing: 10x/yr improvement October 10, 2010 DIYgenomics.org April 1, 2010 Image credit: http://pubs.acs.org/cen/_img/87/i50/8750cover2_law.gif Dec. 14, 2009
  • 18. Direct-to-Consumer genomics landscape October 10, 2010 DIYgenomics.org Single/few condition Multiple condition Whole genome Cost 1 Medical condition $9,500 Service Breadth Public studies Matchmaking ScientificMatch $1,995 GenePartner $10-$99 Paternity Genelex $200-$475 Identigene $149-$399 Pregnancy Screening Counsyl $349 Nutrigenomics APO E Gene Diet $389 Inherent Health $99 Coriell 15 conditions Scripps (Navigenics) 28 conditions Pers. Genome Proj. Conditions undisclosed Harvard Med. Sch. Genetic disorders, Predisposition DNA Direct $200-$3,500 Matrix Genomics $199-$799 Drug sensitivity, $ Exome 23andme 174 conditions Navigenics* 40 conditions deCODEme 49 conditions $1,000 $429 $299 Genomics 71 conditions Pathway* $2,500 $999 $2,000 $985 *Must be physician-ordered Knome EdgeBio $6,000 $19,500 Knome Illumina $48,000 $350,000 $99,500 $68,500 $20,000 1 $39,500
  • 19.
  • 20. Melanie Swan +1-650-681-9482 @DIYgenomics www.DIYgenomics.org [email_address] Slides: http://slideshare.net/LaBlogga Creative Commons 3.0 license Thank you! Questions?