23and me

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Consumers, Genomes, & Research Anne Wojcicki Co-Founder

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Research2.0

Transcript of 23and me

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Consumers, Genomes, & Research

Anne Wojcicki Co-Founder

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The Evolution of 23andMe

+

$100 Genomes! The Consumer

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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.

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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

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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.

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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.

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Monica Jewish?

African-American?

Hispanic?

Native American?

Macular Degeneration?

Sickle Cell?

Plavix?

Breast Cancer?

Copyright © 2010 23andMe, Inc. All rights reserved.

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European Descent Asian & European Descent

Copyright © 2010 23andMe, Inc. All rights reserved.

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Monica meet Monica

BRCA2

BRCA1

Copyright © 2010 23andMe, Inc. All rights reserved.

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Warfarin

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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.

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New associations published every week

Copyright © 2010 23andMe, Inc. All rights reserved.

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Research 2.0

Copyright © 2010 23andMe, Inc. All rights reserved.

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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.

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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.

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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.

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Research 2.0

Parkinson’s

Healthy Aging

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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

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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.

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GBA Mutations & Parkinson’s

Copyright © 2010 23andMe, Inc. All rights reserved.

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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

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“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

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Introducing Relative Finder

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Maternal Lineage

Paternal Lineage

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Copyright © 2010 23andMe, Inc. All rights reserved.

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Perspec'ves  for  building  a  Community  where    disease  data  and  models  are  shared  

Lessons  Learned:  

 1-­‐  

 2-­‐  

Challenges  Ahead:  

 1-­‐  

 2-­‐