Clinical and Recreational Genomics

Personal experiences with direct-to-consumer genotyping

Mark Boguski, M.D., Ph.D.Department of PathologyBeth Israel Deaconess Medical Center

October 6, 2008

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

Victor McKusick, M.D. (1921-2008)

He foundedMendelian Inheritance inMan in 1962…Later MIM → Online MIMor OMIM

He foundedThe journalGENOMICSIn 1987

www.markboguski.net/teaching.htm

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 Project to encourage medical altruism and self-knowledge and makes his own biological material available for study.

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.

The Rapidly Evolving Personal Genomics IndustryNot for profit Services Cost

www.MyDaughtersDNA.org

Personal Genome Project

www.pgen.us

“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

N/A

Not-for-profit

Commercial Businesses

Personal Genome Service www.23andme.com

Navigenics

www.navigenics.com

deCODE genetics

www.decode.com

“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

$2500

$985

“It’s fun to learn about your genome.”

Fashion & Style section September 12, 2008

23andMe “Spit Party” in NYC

“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 NavigenicsHome 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:# http://www.ncbi.nlm.nih.gov## rsid chromosome position genotypers3094315 1 742429 AArs12562034 1 758311 GGrs3934834 1 995669 CCrs9442372 1 1008567 GGrs3737728 1 1011278 GGrs11260588 1 1011521 GGrs6687776 1 1020428 CCrs9651273 1 1021403 GG

Raw genotype data: deCODEmeName,Variation,Chromosome,Position,Strand,YourCoders4345758,C/T,1,28663,+,TTrs4477212,A/G,1,72017,+,AArs1856862,A/T,1,110905,-,TTrs4096703,C/G,1,160593,+,GGrs2994597,A/T,1,593369,-,TTrs3871859,G/T,1,640354,-,GGrs4000335,A/G,1,679049,+,GGrs28659788,C/G,1,713170,+,CCrs3094315,C/T,1,742429,-,TTrs3131972,C/T,1,742584,-,CCrs3131969,C/T,1,744045,-,CCrs1048488,C/T,1,750775,+,TTrs2905046,A/G,1,752518,-,GGrs12562034,A/G,1,758311,+,GGrs4040617,A/G,1,769185,+,AArs2980314,A/C,1,771121,-,CCrs2980300,C/T,1,775852,+,CCrs2905036,A/G,1,782343,-,AArs11240777,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/TSNP_A-1967418 rs1496555 GG chr1 2224111 A/GSNP_A-1969580 --- GG chr1 2319424 A/GSNP_A-4263484 rs3890745 TT chr1 2543484 C/TSNP_A-1978185 rs10492936 GG chr1 2926730 G/ASNP_A-4264431 rs10489588 GG chr1 2941694 G/ASNP_A-1980898 rs2376495 GC chr1 3084986 G/CSNP_A-1983139 rs4648462 AA chr1 3155127 A/CSNP_A-4265735 rs10492939 GG chr1 3292731 G/ASNP_A-1995832 rs9424283 CG chr1 3695086 C/GSNP_A-1995893 rs2154068 AG chr1 3710825 A/GSNP_A-1997689 rs12060299 GG chr1 3753024 A/GSNP_A-1997709 rs10909802 TT chr1 3753427 T/CSNP_A-2004249 rs676853 AC chr1 4461025 A/C

Reports on genotype-phenotype associations23andMe 91 diseases and “traits”

deCODEme 26 diseases and 4 “characteristics”

Navigenics 23 diseases and “conditions”

Comparison of covered diseases and conditions

Abdominal aortic aneurysm Abdominal aneurysm Age-related Macular Degeneration Age-related macular degeneration Macular degeneration Alcohol Dependence Alcohol Flush Reaction Alcohol Flush ReactionAnkylosing Spondylitis

Alzheimer's disease Alzheimer's disease Antidepressant Response Asthma AsthmaAtrial Fibrillation Atrial fibrillation Atrial fibrillation Attention-Deficit Hyperactivity Disorder Avoidance of Errors Back Pain Baldness Beta-Blocker Response Bipolar Disorder Birth Weight Bitter Taste Perception Bitter Taste Perception

Bladder cancerBlood 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

23andMe deCODEme Navigenics

Home page comparisons & links

23andMe deCODEme NavigenicsHome 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

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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 consumeradvocacy 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

Formula for calculating the genotypes:

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

Hunter Gatherer Warrior

Teacher Explorer Nomad

$2500$ 985$ 399

$14.95

Leaping beyond the genome – what lies ahead?

Dr. William B. NeavesPresident & CEO, Stowers Institute for Medical Research

Kansas City, MO

A copy of today’s presentation and related materialscan be found at

www.markboguski.net/presentations.htm

“Be careful about reading health books.  You may die of a misprint.”-Mark Twain