DNA & Personalized Medicine


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DNA & Personalized Medicine

  1. 1. genetics just got personal. DNA & Personalized Medicine e-Patient Connections October 27, 2009 @23andme @akhomenko
  2. 2. genetics just got personal. What is Personalized Medicine? “The application of genomic and molecular data to better target the delivery of health care, facilitate the discovery and clinical testing of new products, and help determine a person's predisposition to a particular disease or condition.” Proposed Senate Bill S.976 Sponsored by Barack Obama in 2007 “A form of medicine that uses information about a person’s genes, proteins, and environment to prevent, diagnose, and treat disease.” “The use of genetic susceptibility National Cancer Institute website or pharmacogenetic testing to tailor an individual's preventive care or drug therapy.” Nature Genetics website
  3. 3. genetics just got personal. Brief History of Genomics Human Genome Project: first complete sequence of the human genome - started in 1990 - first draft in 2000 - completed in 2003
  4. 4. genetics just got personal. Brief History of Genomics HapMap project: haplotype map of the human genome, key resource for research - started in 2002 - phase 1 published in 2005 - phase 2 published in 2007
  5. 5. genetics just got personal. Brief History of Genomics Genotyping chips (e.g from Affymetrix and Illumina): widely used in genome-wide association studies (GWAS) - 10k SNP arrays in 2004 - 500k SNP arrays in 2006
  6. 6. genetics just got personal. What is 23andMe? • Web-based service that helps customers read and understand their DNA - ancestry, inherited traits and disease risk. Started in April 2006, launched in November 2007. • Customers submit a small saliva sample that is processed using a custom DNA chip. • Data presented on a secure website using interactive tools. • Facilitates research through an initiative called 23andWe
  7. 7. genetics just got personal. What is 23andMe? • Illumina HumanHap550+ array (~580k SNPs) – Opportunity to customize – Maximum information per $ • Custom Content (30k SNPs) – SNPs with reported associations (including rare variants) – Pharmacogenetic SNPs (including DMET) – Coverage of SNPs used in standard genetic tests – HLA region – Y and Mito
  8. 8. genetics just got personal. What is 23andMe?
  9. 9. genetics just got personal. 23andMe and personalized medicine • Empowers individuals to understand and take action based on their genetic data • Creates a research platform that gives individuals a voice in setting the direction of research • Provides a community in which individuals can exchange information with each other
  10. 10. genetics just got personal. Health and Traits
  11. 11. genetics just got personal. Prostate Cancer Presentation of the genotype- specific risk estimate
  12. 12. genetics just got personal. Prostate Cancer Markers used in the risk estimate and their effects
  13. 13. genetics just got personal. Real-life example
  14. 14. genetics just got personal. Real-life example Jeff Gulcher, CSO of deCODE • Got his genetic data from a deCODEme test • PSA test for prostate cancer at the age of 48 • Exploratory biopsy - aggressive form of cancer • Underwent surgery right away deCODEme blog, July 25, 2008
  15. 15. genetics just got personal. Carrier Status For individuals who have a family history of a genetic disorder and to people in population groups with an increased risk of specific genetic conditions.
  16. 16. genetics just got personal. Pharmacogenetics Warfarin: Medicare won’t pay for testing across the board, but would pay for it in clinical trials. FDA recommends a genetic test.
  17. 17. genetics just got personal. Pharmacogenetics Plavix: a number of patients getting Plavix currently get no benefit from it, knowing the genetic factors can help choose an alternative drug (e.g. Effient).
  18. 18. genetics just got personal. Real-life examples Had a blood clot at the age of 35 and had to start taking a blood thinner. Went to the doctor with 23andMe data in hand.
  19. 19. genetics just got personal. Venous Thromboembolism (VTE) There are known genetic mutations that increase the risk of VTE considerably. Other known risk factors include obesity, pregnancy, birth-control pills. On September 15, 2008, the US Surgeon General, Rear Admiral Steven K. Galson, MD, MPH, issued the first Call to Action to Prevent Deep Vein Thrombosis and Pulmonary Embolism.
  20. 20. genetics just got personal. Research 2.0 • People, not “subjects” • Reduced barriers to participation • Returning data to participants • Sharing results with participants • Allow participants to help guide research direction and goals • Utilization of the Web and social networking tools Active, engaged participants making a difference
  21. 21. genetics just got personal. Research 2.0 • 23andWe - surveys, individual-vs-group results • Parkinson’s Disease - 3000+ individuals enrolled in a research study • Research Revolution - Patient-driven research, 10 candidate diseases • Senior Games - 4500+ athletes enrolled as a cohort
  22. 22. genetics just got personal. Research 2.0
  23. 23. genetics just got personal. Research 2.0 • Paper abstract presented at ASHG 2009: Web- based, participant-driven studies yield novel genetic associations for common traits. • 3 novel associations, a number of replications. “The strangeness of the 23andMe model is starting to wear off, and presentations like this one will no doubt help to convince scientists that this is a company that at least is capable of doing solid science.” Daniel MacArthur, Genetic Future Blog, October 2009
  24. 24. genetics just got personal. Customer engagement
  25. 25. genetics just got personal. Customer engagement
  26. 26. genetics just got personal. Customer engagement Initial focus on early adopters, novelty and status seekers. Press and event marketing. Lots of features, eventual information overload. On-site community for support, off-site community for outreach: twitter, facebook, genetic genealogy mailing lists and forums. The perception has changed dramatically in the 2 years since we launched: encountering a lot less resistance from scientific, research, medical communities. Need to define and focus the product more.
  27. 27. genetics just got personal. Customer engagement Research Revolution – poor experience with patient communities, resistance to outside voices, model. Lack of internal advocates, even people who believed in what we did were reluctant to lend their voice to the broad discussion. One-on-one interactions were the most successful. On the ancestry front, the opposite experience: value proposition is clear, people are used to paying for genetic data, good success in marketing a discounted product through key figures in target communities.
  28. 28. genetics just got personal. Who benefits from usage of genetic data? • Patients – Understand their own data, actively participate in care • Doctors – Preventive care, pharmacogenetics • Payers – Lower cost of care with the right drugs and therapies • Drug companies – Improved patient outcomes, faster drug development • Researchers – Patient-powered research platform, engaged community
  29. 29. genetics just got personal. Need to fill in the gaps! • 23andMe has established the initial connection with consumers / patients • How do we bring everyone else into the fold? What do you think?
  30. 30. genetics just got personal. Real patient data
  31. 31. genetics just got personal. Thank you! www.23andMe.com Discount code: EPATIENT2009 Alex Khomenko Director of Engineering khomenko@23andme.com @akhomenko