Clinical and Recreational Genomics Personal experiences with directtoconsumer

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

Victor Mc. Kusick, 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

The Brave New World of Personal Genomes I. Personal Stories n n n 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 Project to encourage medical altruism and selfknowledge and makes his own biological material available for study.

The Brave New World of Personal Genomes II. Demographics and Commercial Services n n n 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-toconsumer businesses.

The Rapidly Evolving Personal Genomics Industry Not for profit Services Cost www. mydaughtersdna. org “a forum for those searching for explanations and the help of the interested community of geneticists, patients, physicians, scientists and family members” “focuses on the practical issues of recruiting and informing volunteers… a test bed for personalized medicine and new ways of interfacing with the research subjects” N/A Not-for-profit “personal insight into ancestry, genealogy, and inherited traits” “a personalized genetic analysis that, combined with relevant health and wellness information, enables a far more personalized health strategy for each individual” “Subscribers … can take their genome and examine it in the context of the literature” $999 $399 Personal Genome Project www. pgen. us N/A Not-for-profit Commercial Businesses Personal Genome Service www. 23 andme. com Navigenics www. navigenics. com de. CODE genetics www. decode. com $2500 $985

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

“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.

Home Page Comparisons & Links 23 and. Me de. CODEme Navigenics Home What is de. CODEme? About Health Compass Our service Video tour Collaborators Genetics 101 Customer stories Genomics 101 Store About de. CODE Genetic Counseling About us Sign-up/Register Member services Family registration Kit registration News blog in Login to My. CODE Demo user Login

Genotyping Technologies 23 and. Me and de. CODE use Illumina human 1 M duo DNA analysis beadchip Navigenics uses Affymetrix Genome-wide SNP array 6. 0

Raw genotype data: 23 and. Me # This data file generated by 23 and. Me 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 rs 3094315 1 742429 AA rs 12562034 1 758311 GG rs 3934834 1 995669 CC rs 9442372 1 1008567 GG rs 3737728 1 1011278 GG rs 11260588 1 1011521 GG rs 6687776 1 1020428 CC rs 9651273 1 1021403 GG

Raw genotype data: de. CODEme Name, Variation, Chromosome, Position, Strand, Your. Code rs 4345758, C/T, 1, 28663, +, TT rs 4477212, A/G, 1, 72017, +, AA rs 1856862, A/T, 1, 110905, -, TT rs 4096703, C/G, 1, 160593, +, GG rs 2994597, A/T, 1, 593369, -, TT rs 3871859, G/T, 1, 640354, -, GG rs 4000335, A/G, 1, 679049, +, GG rs 28659788, C/G, 1, 713170, +, CC rs 3094315, C/T, 1, 742429, -, TT rs 3131972, C/T, 1, 742584, -, CC rs 3131969, C/T, 1, 744045, -, CC rs 1048488, C/T, 1, 750775, +, TT rs 2905046, A/G, 1, 752518, -, GG rs 12562034, A/G, 1, 758311, +, GG rs 4040617, A/G, 1, 769185, +, AA rs 2980314, A/C, 1, 771121, -, CC rs 2980300, C/T, 1, 775852, +, CC rs 2905036, A/G, 1, 782343, -, AA rs 11240777, A/G, 1, 788822, +, GG

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 rs 2887286 TT chr 1 1145994 C/T SNP_A-1967418 rs 1496555 GG chr 1 2224111 A/G SNP_A-1969580 --- GG chr 1 2319424 A/G SNP_A-4263484 rs 3890745 TT chr 1 2543484 C/T SNP_A-1978185 rs 10492936 GG chr 1 2926730 G/A SNP_A-4264431 rs 10489588 GG chr 1 2941694 G/A SNP_A-1980898 rs 2376495 GC chr 1 3084986 G/C SNP_A-1983139 rs 4648462 AA chr 1 3155127 A/C SNP_A-4265735 rs 10492939 GG chr 1 3292731 G/A SNP_A-1995832 rs 9424283 CG chr 1 3695086 C/G SNP_A-1995893 rs 2154068 AG chr 1 3710825 A/G SNP_A-1997689 rs 12060299 GG chr 1 3753024 A/G SNP_A-1997709 rs 10909802 TT chr 1 3753427 T/C SNP_A-2004249 rs 676853 AC chr 1 4461025 A/C

Reports on genotype-phenotype associations 23 and. Me 91 diseases and “traits” de. CODEme 26 diseases and 4 “characteristics” Navigenics 23 diseases and “conditions”

Comparison of covered diseases and conditions 23 and. Me de. CODEme Navigenics

Home page comparisons & links 23 and. Me de. CODEme Navigenics Home What is de. CODEme? About Health Compass Our service Video tour Collaborators Genetics 101 Customer stories Genomics 101 Store About de. CODE Genetic Counseling About us Sign-up/Register Member services Family registration Kit registration News blog in Login to My. CODE Demo user Login

Consumer Exploitation in the Genome Era

1/2

1/2

“Dr. Dave” writes: I am super busy and don't normally write a review on anything! But this book is sooooo 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!

No reviews

½* *Average of 38 reviews

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

$2500 $ 985 $ 399 $14. 95

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

“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