Internet-mediated Mental Health Therapies by pengxiuhui


									Clinical and Recreational
  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
   Two illustrative anecdotes
   Compare and contrast three DTC genotyping
       Products and services
       Technologies and raw genotype data
       Reports on genotype-phenotype associations
   Mark Boguski’s “Health Compass”
   Consumer genomics and the future
Victor McKusick, M.D. (1921-2008)
He founded
Inheritance in
Man in 1962…                   He founded
Later MIM →                    The journal
Online MIM                     GENOMICS
or OMIM                        In 1987

The Brave New World of Personal Genomes
I. 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
    Project to encourage medical altruism and self-
    knowledge and makes his own biological material
    available for study.
The Brave New World of Personal Genomes
II. 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.
The Rapidly Evolving Personal
Genomics Industry
Not for profit            Services                                            Cost    “a forum for those searching for explanations       N/A
                          and the help of the interested community of         Not-for-profit
                          geneticists, patients, physicians, scientists and
                          family members”
Personal Genome Project                                                       N/A
                          “focuses on the practical issues of recruiting               and informing volunteers… a test bed for            Not-for-profit
                          personalized medicine and new ways of
                          interfacing with the research subjects”
Commercial Businesses
Personal Genome Service   “personal insight into ancestry, genealogy, and     $999 $399           inherited traits”
Navigenics                “a personalized genetic analysis that, combined     $2500        with relevant health and wellness information,
                          enables a far more personalized health strategy
                          for each individual”
                          “Subscribers … can take their genome and
deCODE genetics           examine it in the context of the literature”        $985
   “It’s fun to learn about your genome.”

            23andMe “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
23andMe        deCODEme              Navigenics
Home           What is deCODEme?     About Health Compass
Our service    Video tour            Collaborators
Genetics 101   Customer stories      Genomics 101
Store          About deCODE          Genetic Counseling
About us       Sign-up/Register      Member services
               Family registration
               Kit registration
               News blog
log in         Login to MyCODE       Login
               Demo user
Genotyping Technologies

23andMe and deCODE use
Illumina human1M duo DNA analysis beadchip

                                   Navigenics uses
                                   Affymetrix Genome-wide SNP array 6.0
  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:
# 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
 Raw genotype data: deCODEme
  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
Reports on genotype-phenotype
23andMe      91 diseases and “traits”

deCODEme     26 diseases and 4 “characteristics”

Navigenics   23 diseases and “conditions”
Comparison of covered diseases and conditions
                23andMe                              deCODEme                        Navigenics
                                              Abdominal aortic aneurysm          Abdominal aneurysm
   Age-related Macular Degeneration           Age-related macular degeneration   Macular degeneration
   Alcohol Dependence
   Alcohol Flush Reaction                     Alcohol Flush Reaction
   Ankylosing Spondylitis
                                              Alzheimer's disease                Alzheimer's disease
   Antidepressant Response
   Asthma                                     Asthma
   Atrial Fibrillation                        Atrial fibrillation                Atrial fibrillation
   Attention-Deficit Hyperactivity Disorder
   Avoidance of Errors
   Back Pain
   Beta-Blocker Response
   Bipolar Disorder
   Birth Weight
   Bitter Taste Perception                    Bitter Taste Perception
                                              Bladder cancer
   Blood Glucose
   Breast Cancer                              Breast cancer                      Breast cancer
   Breast Cancer
   Caffeine Metabolism
   Celiac Disease                             Celiac disease                     Celiac disease
   Celiac Disease
   Cluster Headaches
   Colorectal Cancer                          Colorectal cancer                  Colon cancer
Home page comparisons & links
23andMe        deCODEme              Navigenics
Home           What is deCODEme?     About Health Compass
Our service    Video tour            Collaborators
Genetics 101   Customer stories      Genomics 101
Store          About deCODE          Genetic Counseling
About us       Sign-up/Register      Member services
               Family registration
               Kit registration
               News blog
log in         Login to MyCODE       Login
               Demo user
Consumer Exploitation in the
Genome Era
    “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!
No reviews

*Average of 38 reviews
 The Six Primary Genotypes

            Hunter                    Teacher
            Gatherer                  Explorer
            Warrior                   Nomad

              Formula for calculating the genotypes:

30,000 genes + prenatal experience + the last 100,000 years on earth
                          = 6 Genotypes
$ 985
$ 399

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

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