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genetics just got personal.




          DNA &
       Personalized
        Medicine
              e-Patient Connections
                 October 27, 2009

                        @23andme
                       @akhomenko
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
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
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
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
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
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
genetics just got personal.




           What is 23andMe?
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
genetics just got personal.




             Health and Traits
genetics just got personal.




                   Prostate Cancer



Presentation of
the genotype-
 specific risk
   estimate
genetics just got personal.




                       Prostate Cancer



Markers used in
the risk estimate
and their effects
genetics just got personal.




            Real-life example
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
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.
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.
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).
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.
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.
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
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
genetics just got personal.




                 Research 2.0
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
genetics just got personal.




       Customer engagement
genetics just got personal.




       Customer engagement
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.
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.
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
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?
genetics just got personal.




             Real patient data
genetics just got personal.




                   Thank you!

               www.23andMe.com
     Discount code: EPATIENT2009



                      Alex Khomenko
                  Director of Engineering
                khomenko@23andme.com
                       @akhomenko

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DNA & Personalized Medicine

  • 1. genetics just got personal. DNA & Personalized Medicine e-Patient Connections October 27, 2009 @23andme @akhomenko
  • 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. 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. 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. 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. 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. 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. genetics just got personal. What is 23andMe?
  • 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. genetics just got personal. Health and Traits
  • 11. genetics just got personal. Prostate Cancer Presentation of the genotype- specific risk estimate
  • 12. genetics just got personal. Prostate Cancer Markers used in the risk estimate and their effects
  • 13. genetics just got personal. Real-life example
  • 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. 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. 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. 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. 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. 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. 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. 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. genetics just got personal. Research 2.0
  • 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. genetics just got personal. Customer engagement
  • 25. genetics just got personal. Customer engagement
  • 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. 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. 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. 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. genetics just got personal. Real patient data
  • 31. genetics just got personal. Thank you! www.23andMe.com Discount code: EPATIENT2009 Alex Khomenko Director of Engineering khomenko@23andme.com @akhomenko