Transcript Document 7877544

Clinical and Recreational
Genomics
Personal experiences with direct-toconsumer genotyping
March 16, 2009
Mark Boguski, M.D., Ph.D.
Department of Pathology
Beth Israel Deaconess Medical Center
Outline of Presentation
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A little history
Personalized medicine/genomics
Two illustrative anecdotes
Compare and contrast three DTC genotyping
companies
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Products and services
Technologies and raw genotype data
Reports on genotype-phenotype associations
My “Health Compass”
Consumer genomics and the future
Who is this man?
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
The Brave New World of Personal Genomes
I. Personal Stories
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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
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
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 Genome Service
www.23andme.com
“personal insight into ancestry, genealogy, and
inherited traits”
$399
$ 25*
Navigenics
www.navigenics.com
“a personalized genetic analysis that, combined
with relevant health and wellness information,
enables a far more personalized health strategy for
each individual”
$2499
$ 499 (10 cond.)
Personal Genome Project
www.pgen.us
N/A
Not-for-profit
Commercial Businesses
deCODE genetics
www.decode.com
“Subscribers … can take their genome and
examine it in the context of the literature”
$985 Complete
$195 Cardio
$225 Cancer
“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
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Member services
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Kit registration
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log in
Login to MyCODE
Demo user
Login
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:
# 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
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
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
associations
23andMe
106 diseases and “traits”
deCODEme
38 diseases and “traits”
Navigenics
23 diseases and “conditions”
Comparison of covered diseases and conditions
23andMe
Age-related Macular Degeneration
Alcohol Dependence
Alcohol Flush Reaction
Ankylosing Spondylitis
Antidepressant Response
Asthma
Atrial Fibrillation
Attention-Deficit Hyperactivity Disorder
Avoidance of Errors
Back Pain
Baldness
Beta-Blocker Response
Bipolar Disorder
Birth Weight
Bitter Taste Perception
Blood Glucose
Breast Cancer
Breast Cancer
Caffeine Metabolism
Celiac Disease
Celiac Disease
Cluster Headaches
Colorectal Cancer
deCODEme
Abdominal aortic aneurysm
Age-related macular degeneration
Navigenics
Abdominal aneurysm
Macular degeneration
Alcohol Flush Reaction
Alzheimer's disease
Alzheimer's disease
Asthma
Atrial fibrillation
Atrial fibrillation
Bitter Taste Perception
Bladder cancer
Breast cancer
Breast cancer
Celiac disease
Celiac disease
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
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 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
No reviews
½*
*Average of 38 reviews
The Six Primary Genotypes
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Hunter
Gatherer
Warrior
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Teacher
Explorer
Nomad
The Six Primary Genotypes
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Hunter
Gatherer
Warrior



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
$2500
$ 985
$ 399
$2500
$ 985
$ 399
$2500
$ 985
$ 399
$14.95
“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
Leaping beyond the genome – what lies ahead?
Dr. William B. Neaves
President & CEO, Stowers Institute for Medical Research
Kansas City, MO