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Research2.0

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23and me Presentation Transcript

  • 1. Consumers, Genomes, & Research Anne Wojcicki Co-Founder
  • 2. The Evolution of 23andMe The Consumer $100 Genomes! +
  • 3. SNP-disease associations 23andMe founded 2.5 years ago, fewer than Today, over 100 associations 2000 associations Copyright © 2010 23andMe, Inc. All rights reserved. source: http://www.genome.gov/GWAStudies
  • 4. 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
  • 5. What is 23andMe? Order a kit via CLIA lab extracts DNA from your Log in and explore our web site. sample and analyzes it at about your genetic data. 600,000 locations. Copyright © 2010 23andMe, Inc. All rights reserved.
  • 6. What is 23andMe? $399- Order a kit via The accuracy of Lab extracts DNA from your > 35,000 Log in and explore our web site. sample and analyzes it at about your genetic data. $499 the600,000 locations. chip is rated individuals in at >99.9% the database Copyright © 2010 23andMe, Inc. All rights reserved.
  • 7. Monica Jewish? African-American? Hispanic? Native American? Macular Degeneration? Sickle Cell? Plavix? Breast Cancer? Copyright © 2010 23andMe, Inc. All rights reserved.
  • 8. European Descent Asian & European Descent Copyright © 2010 23andMe, Inc. All rights reserved.
  • 9. Monica meet Monica BRCA2 BRCA1 Copyright © 2010 23andMe, Inc. All rights reserved.
  • 10. Warfarin Copyright © 2010 23andMe, Inc. All rights reserved.
  • 11. Health information 140 reports on health and traits •  61 are of high confidence (and drug growing) response •  24 carrier status (recessive disease) disease reports risk •  8 drug response reports carrier •  12 disease risk reports status •  10 traits Copyright © 2010 23andMe, Inc. All rights reserved.
  • 12. New associations published every week Copyright © 2010 23andMe, Inc. All rights reserved.
  • 13. Research 2.0 Copyright © 2010 23andMe, Inc. All rights reserved.
  • 14. 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.
  • 15. The 23andMe Database Over 35,000 Genomes 70% Users Have Taken at Least 1 Survey In less than 2 years… One of the largest genetic databases in the world Copyright © 2010 23andMe, Inc. All rights reserved.
  • 16. 23andWe 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. Results on 22 Common Traits Copyright © 2010 23andMe, Inc. All rights reserved.
  • 17. Research 2.0 Parkinson’s Healthy Aging
  • 18. 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
  • 19. 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.
  • 20. GBA Mutations & Parkinson’s Copyright © 2010 23andMe, Inc. All rights reserved.
  • 21. GBA & Parkinson’s •  Sidransky et al (NEJM 2009) •  16 centers •  5691 patients, 4898 controls •  COST: +5M Odds ratio for any GBA mutation (patients vs. controls): 5.34 •  Neumann et al (Brain 2009) 3+ YRS TIME: •  Clinically and pathologically diagnosed cases from UK •  790 patients and 257 controls (14 GBA mutations) •  Odds ratio: 3.7 Copyright © 2010 23andMe, Inc. All rights reserved.
  • 22. Community “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.” Copyright © 2010 23andMe, Inc. All rights reserved.
  • 23. Introducing Relative Finder Copyright © 2010 23andMe, Inc. All rights reserved.
  • 24. Paternal Maternal Lineage Lineage Copyright © 2010 23andMe, Inc. All rights reserved.
  • 25. Copyright © 2010 23andMe, Inc. All rights reserved.
  • 26. Perspec'ves  for  building  a  Community  where     disease  data  and  models  are  shared   Lessons  Learned:    1-­‐    2-­‐   Challenges  Ahead:    1-­‐    2-­‐