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Clinical and Recreational Genomics

Clinical and Recreational Genomics. Personal experiences with direct-to-consumer genotyping. October 6, 2008. Mark Boguski, M.D., Ph.D. Department of Pathology Beth Israel Deaconess Medical Center. Outline of Presentation. A little history Personalized medicine/genomics

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Clinical and Recreational Genomics

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  1. Clinical and Recreational Genomics Personal experiences with direct-to-consumer genotyping October 6, 2008 Mark Boguski, M.D., Ph.D. Department of Pathology Beth Israel Deaconess Medical Center

  2. Outline of Presentation • A little history • Personalized medicine/genomics • Two illustrative anecdotes • Compare and contrast three DTC genotyping companies • Products and services • Technologies and raw genotype data • Reports on genotype-phenotype associations • Mark Boguski’s “Health Compass” • Consumer genomics and the future

  3. Victor McKusick, M.D. (1921-2008) He founded Mendelian Inheritance in Man in 1962… Later MIM → Online MIM or OMIM He founded The journal GENOMICS In 1987 www.markboguski.net/ teaching.htm

  4. The Brave New World of Personal GenomesI.Personal Stories • A father uses commodity DNA sequencing technologies and publicly-available medical databases to investigate the elusive cause of his daughter’s genetic illness. • A controversial scientist publishes his autobiography which is partially based on the complete sequence of his own genome. • A Harvard geneticist launches a Personal Genome Projectto encourage medical altruism and self-knowledge and makes his own biological material available for study.

  5. The Brave New World of Personal GenomesII.Demographics and Commercial Services • The cover story of WIRED magazine asserts that “a new $1000 DNA test can tell how you’ll live – and die.” • A cover story of the AARP Bulletin is entitled “Your Genes: The Newest Tool for Good Health.” • Several start-up companies (two of which are backed by Google) form to provide genotyping services as direct-to-consumer businesses.

  6. The Rapidly Evolving Personal Genomics Industry

  7. “It’s fun to learn about your genome.” 23andMe “Spit Party” in NYC Fashion & Style section September 12, 2008

  8. “People think if you have money to spend on this, why not buy a test instead of a model train for Christmas.” Dr. Alan Guttmacher, acting director of the National Human Genome Research Institute at NIH.

  9. Home Page Comparisons & Links

  10. Genotyping Technologies 23andMe and deCODE use Illumina human1M duo DNA analysis beadchip Navigenics uses Affymetrix Genome-wide SNP array 6.0

  11. Raw genotype data: 23andMe # This data file generated by 23andMe at: Tue Jul 1 19:13:29 2008 # Below is a text version of your data. Fields are TAB-separated # Each line corresponds to a single SNP. For each SNP, we provide its # identified (an rsid or an internal id), its location on the reference human # genome, and the genotype call oriented with respect to the plus strand on the # human reference sequence. We are using reference human assembly build 36. # Note that it is possible that data downloaded at different times may be # different due to ongoing improvements in our ability to call genotypes. # # More information on reference human assembly build 36: # http://www.ncbi.nlm.nih.gov # # rsid chromosome position genotype rs3094315 1 742429 AA rs12562034 1 758311 GG rs3934834 1 995669 CC rs9442372 1 1008567 GG rs3737728 1 1011278 GG rs11260588 1 1011521 GG rs6687776 1 1020428 CC rs9651273 1 1021403 GG

  12. Raw genotype data: deCODEme Name,Variation,Chromosome,Position,Strand,YourCode rs4345758,C/T,1,28663,+,TT rs4477212,A/G,1,72017,+,AA rs1856862,A/T,1,110905,-,TT rs4096703,C/G,1,160593,+,GG rs2994597,A/T,1,593369,-,TT rs3871859,G/T,1,640354,-,GG rs4000335,A/G,1,679049,+,GG rs28659788,C/G,1,713170,+,CC rs3094315,C/T,1,742429,-,TT rs3131972,C/T,1,742584,-,CC rs3131969,C/T,1,744045,-,CC rs1048488,C/T,1,750775,+,TT rs2905046,A/G,1,752518,-,GG rs12562034,A/G,1,758311,+,GG rs4040617,A/G,1,769185,+,AA rs2980314,A/C,1,771121,-,CC rs2980300,C/T,1,775852,+,CC rs2905036,A/G,1,782343,-,AA rs11240777,A/G,1,788822,+,GG

  13. Raw genotype data: Navigenics # This data file was generated by Navigenics Fri Sep 5 09:17 2008 # The file contains genotype calls from the Affymetrix Genome-Wide # Human SNP Array 6.0. # The genotyping was performed on behalf of Navigenics, Inc. by the # CLIA-certified Affymetrix Clinical Services Laboratory (ACSL). # The data was securely transmitted from ACSL in .chp format. SNP_A-2131660 rs2887286 TT chr1 1145994 C/T SNP_A-1967418 rs1496555 GG chr1 2224111 A/G SNP_A-1969580 --- GG chr1 2319424 A/G SNP_A-4263484 rs3890745 TT chr1 2543484 C/T SNP_A-1978185 rs10492936 GG chr1 2926730 G/A SNP_A-4264431 rs10489588 GG chr1 2941694 G/A SNP_A-1980898 rs2376495 GC chr1 3084986 G/C SNP_A-1983139 rs4648462 AA chr1 3155127 A/C SNP_A-4265735 rs10492939 GG chr1 3292731 G/A SNP_A-1995832 rs9424283 CG chr1 3695086 C/G SNP_A-1995893 rs2154068 AG chr1 3710825 A/G SNP_A-1997689 rs12060299 GG chr1 3753024 A/G SNP_A-1997709 rs10909802 TT chr1 3753427 T/C SNP_A-2004249 rs676853 AC chr1 4461025 A/C

  14. Reports on genotype-phenotype associations

  15. Comparison of covered diseases and conditions 23andMe deCODEme Navigenics

  16. Home page comparisons & links

  17. Consumer Exploitation in the Genome Era

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  20. “Dr. Dave” writes: I am super busy and don't normally write a review on anything! But this book is sooooooooo baaaaaad that I felt compelled. The author provides almost no real information and continuously berates the reader to "start a consumer advocacy group" to do this and that. For my $25 I would have rather donated it to a consumer advocacy group to prevent the publication of awful books like this one! And to think this lady has written 36 books! If Ms Hart's book were required reading by criminals, we wouldn't need the death penalty… the prisoners would all commit suicide!

  21. No reviews

  22. ½* *Average of 38 reviews

  23. Hunter Gatherer Warrior Teacher Explorer Nomad The Six Primary Genotypes Formula for calculating the genotypes: 30,000 genes + prenatal experience + the last 100,000 years on earth = 6 Genotypes

  24. $2500 $ 985 $ 399 $14.95

  25. Leaping beyond the genome – what lies ahead? Dr. William B. Neaves President & CEO, Stowers Institute for Medical Research Kansas City, MO

  26. “Be careful about reading health books.  You may die of a misprint.” -Mark Twain A copy of today’s presentation and related materials can be found at www.markboguski.net/presentations.htm

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