23and me
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Transcript of 23and me
Consumers, Genomes, & Research
Anne Wojcicki Co-Founder
The Evolution of 23andMe
+
$100 Genomes! The Consumer
SNP-disease associations
source: http://www.genome.gov/GWAStudies
2.5 years ago, fewer than
100 associations Today, over 2000 associations
23andMe founded
Copyright © 2010 23andMe, Inc. All rights reserved.
What is 23andMe?
• A service to provide consumers access to their genetic data (+ features and tools to make that data useful and interesting)
• A platform for genetic research
Order a kit via our web site.
CLIA lab extracts DNA from your sample and analyzes it at about
600,000 locations.
Log in and explore your genetic data.
What is 23andMe?
Copyright © 2010 23andMe, Inc. All rights reserved.
What is 23andMe?
Order a kit via our web site.
Lab extracts DNA from your sample and analyzes it at about
600,000 locations.
Log in and explore your genetic data.
The accuracy of the chip is rated
at >99.9%
> 35,000 individuals in the database
$399- $499
Copyright © 2010 23andMe, Inc. All rights reserved.
Monica Jewish?
African-American?
Hispanic?
Native American?
Macular Degeneration?
Sickle Cell?
Plavix?
Breast Cancer?
Copyright © 2010 23andMe, Inc. All rights reserved.
European Descent Asian & European Descent
Copyright © 2010 23andMe, Inc. All rights reserved.
Monica meet Monica
BRCA2
BRCA1
Copyright © 2010 23andMe, Inc. All rights reserved.
Warfarin
Copyright © 2010 23andMe, Inc. All rights reserved.
Health information
140 reports on health and traits
• 61 are of high confidence (and growing)
• 24 carrier status (recessive disease) reports
• 8 drug response reports
• 12 disease risk reports
• 10 traits
drug response
disease risk
carrier status
Copyright © 2010 23andMe, Inc. All rights reserved.
New associations published every week
Copyright © 2010 23andMe, Inc. All rights reserved.
Research 2.0
Copyright © 2010 23andMe, Inc. All rights reserved.
Survey infrastructure
• 35+ surveys online, from exercise and lifestyle to Parkinson’s disease
• A dedicated survey team
• Interactive, web-based tools allow us to develop ongoing relationships
• We can recontact easily
Copyright © 2010 23andMe, Inc. All rights reserved.
The 23andMe Database
Over 35,000 Genomes
In less than 2 years… One of the largest genetic databases in the world
70% Users Have Taken at Least 1 Survey
Copyright © 2010 23andMe, Inc. All rights reserved.
23andWe
Results on 22 Common Traits
Web-based, participant-driven studies yield novel genetic associations for common traits. N. Eriksson1, J. M. Macpherson1, J.
Tung1, L. Hon1, B. Naughton1, S. Saxonov1, L. Avey1, A. Wojcicki1, I. Pe'er2, J. Mountain1,3 1) 23andMe, Inc., Mountain View, CA; 2) Department of
Computer Science, Columbia University, New York, NY; 3) Department of Anthropology, Stanford University, Stanford, CA.
Copyright © 2010 23andMe, Inc. All rights reserved.
Research 2.0
Parkinson’s
Healthy Aging
The Parkinson’s Project
January 09: Received Funding
February: Teamed up with MJ Fox Foundation & Parkinson’s Institute
March: Launched Program
April: First 2,000 people
November: Preliminary results yielding a number of novel genes associated with Parkinson’s
The Parkinson’s Project: April 2010
World's largest database of individuals with the LRRK2 genotype
~4000 participants
Over 75% have completed the Parkinson’s surveys
Copyright © 2010 23andMe, Inc. All rights reserved.
GBA Mutations & Parkinson’s
Copyright © 2010 23andMe, Inc. All rights reserved.
GBA & Parkinson’s • Sidransky et al (NEJM 2009)
• 16 centers
• 5691 patients, 4898 controls
• Odds ratio for any GBA mutation (patients vs. controls): 5.34
• Neumann et al (Brain 2009)
• Clinically and pathologically diagnosed cases from UK
• 790 patients and 257 controls (14 GBA mutations)
• Odds ratio: 3.7
COST: +5M TIME: 3+ YRS
Copyright © 2010 23andMe, Inc. All rights reserved.
“As for this site, it makes me feel like I am not alone, there is someone out there I can talk to, even if it is just to compare symptoms. Even though I have become actively involved in 2 PD groups, these conversions really help.
Thank you to everyone who takes the time to read and reply.”
Community
Copyright © 2010 23andMe, Inc. All rights reserved.
Introducing Relative Finder
Copyright © 2010 23andMe, Inc. All rights reserved.
Maternal Lineage
Paternal Lineage
Copyright © 2010 23andMe, Inc. All rights reserved.
Copyright © 2010 23andMe, Inc. All rights reserved.
Perspec'ves for building a Community where disease data and models are shared
Lessons Learned:
1-‐
2-‐
Challenges Ahead:
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