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Ι Direct-to-consumer genetic testingCan it be done responsibly

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					   Ι Direct-to-consumer genetic testing:
     Can it be done responsibly?

   Ι Elissa Levin, MS, CGC
     Director, Genetic Counseling
     Navigenics




| Mountain States Genetics Foundation
         Annual Conference
            July 18, 2008
    Agenda

     Ι   Why DTC genetic testing? – Converging trends

     Ι   The current landscape – Who is out there?

     Ι   DTC models – A few examples

     Ι   Setting industry standards




2
    DTC, Why Now?

     Ι   Emerging genetic technology

     Ι   Improving clinical knowledge

     Ι   Increasing awareness about genetics

     Ι   Decreasing cost of genetic tests

     Ι   Increasing healthcare costs

     Ι   Improving Web technology

     Ι   Trends towards consumer empowerment

     Ι   Media attention…




3
    DTC, Why Now?

     Ι   Emerging genetic technology

     Ι   Improving clinical knowledge

     Ι   Increasing awareness about genetics   Consumer Demand
                                                 Ι   Increasing
     Ι   Decreasing cost of genetic tests
                                                     awareness of
     Ι   Increasing healthcare costs                 and interest
                                                     in genetics
     Ι   Improving Web technology

     Ι   Trends towards consumer empowerment

     Ι   Media attention…




4
Why People Seek DTC Genetic Testing
 Ι   Getting genetic testing can be difficult
      •   Access preferences, location, time-off, childcare…

      •   Time to adoption for new types of testing

 Ι   Provider awareness is not optimal
      •   Lack of perceived value in genetic testing

      •   Poor referral patterns to genetics professionals

      •   Challenge in keeping up current on genetics

 Ι   DTC can be more cost-effective

 Ι   Privacy and confidentiality

 Ι   Proactive interest in genetic contribution to disease
     The Current Landscape |




66    June 20072008
      August 5,       Navigenics CONFIDENTIAL
    Current DTC Spectrum
                                                           Diagnostic
    Ι      Not all DTC genetic testing
           companies are the same!
    Ι      DTC genetic testing is a growing
           market, but with major differences
                                                        Predisposition
             1. Types of testing offered

             2. Model of services offered
                  Direct access testing (no physician
                  ordering, no results in context)
                                                         Recreational


                  “Virtual clinic” (mirrored after
                  traditional clinical practice)



7       August 5, 2008
        DTC Models
         Modeled after information addressed during traditional genetic
         counseling sessions:
    •    What is the condition / disease?
    •    How is it inherited?
    •    What testing can or can’t tell you?
    •    Who is appropriate for testing?
    •    What is the testing process?
    •    What can you do with results?
    •    Pros and cons of testing
    •    Insurance coverage
    •    Family history assessment


         In-depth interpretation of results, genetic counselors available pre- and
         post-test, physician reports, more…


8
    DTC Models


         • A CLIA lab that provides access to testing and GCs

         • Common genetic conditions that are “preventable or treatable”

         • How it works:
                 - Ordered directly by consumers, but must provide physician contact info

                 - Results provided directly to physician

                 - Provide interpretation reports, recommendations, and education

         • GCs available by phone for consumers, their families, and MDs




9    August 08
     Quick DTC Checklist

              Patients and professionals need to be able to carefully scrutinize
              individual companies and services.

                  What types of genetic testing is offered?
                  Is the laboratory utilized appropriately certified?
                  Is educational information provided?
                  What level of services are provided?
                  Who provides those services – genetics professionals?
                  Are results interpretation provided?
                  Will they speak with your doctor?
                  Are costs are clearly stated?
                  Are company privacy policy and standards available?



10    August 08
      Navigenics Service Overview |




 11
11     June 20072008
       August 5,       Navigenics CONFIDENTIAL
     Navigenics – Company Overview
     Ι   Vision:
         To improve individuals’ health across the population by educating,
         empowering and motivating people to take action to prevent the onset of
         disease or lessen its impact.

     Ι   Product Description:
         The Navigenics™ Health Compass is an innovative service which informs
         individuals of their genetic predisposition for a variety of common diseases
         and provides guidance and information on how to delay or prevent the onset
         of those diseases and focus healthcare strategies.

     Ι   Key Company Standards:
          • Quality science with a clinical basis   • Genetic counseling support
          • CLIA lab, guarantee 100% call rates     • Security and privacy
          • Health and wellness partnerships        • External advisory boards



12
Clinical Advisory Board                                      Scientific Advisory Board
Ι        David Agus, M.D., Chair, Co-Founder and         Ι     Jeff Trent, Ph.D., Chair: President and
         Board Member, Navigenics; Director, Spielberg         Scientific Director, Translational Genomics
         Center for Proteomics, Redstone Prostate              Research Institute (TGen)
         Cancer Research Program, Warschaw
         Prostate Cancer Center, Cedars-Sinai Medical
         Center                                          Ι     David Botstein, Ph.D., Anthony B. Evnin
                                                               Professor of Genomics, Director, Lewis-Sigler
                                                               Institute for Integrative Genomics, Princeton
Ι        Carlos Camargo, M.D.: Stanford Emeritus               University; Member, National Academy of
         Clinical Professor of Medicine                        Science

Ι        Daniel Federman, M.D.: Senior Dean for          Ι     Isaac Kohane, M.D., Ph.D: Henderson
         Alumni Relations and Clinical Teaching,               Associate Professor of Pediatrics and Health
         Harvard Medical School                                Sciences and Health Sciences and Technology,
                                                               Harvard Medical School
Ι        Bruce Landon, M.D., MBA: Associate
         Professor of health care policy at Harvard      Ι     Nicholas J. Schork, Ph.D.: Director of
         Medical School; Associate Professor of                Research, Scripps Genomic Medicine and
         Medicine at the Beth Israel Deaconess Medical         Professor, Molecular and Experimental Medicine,
         Center. Practices internal medicine at BIDMC          The Scripps Research Institute
Ι        Michael Nierenberg M.D., Medical Director,      Ι     Spencer Wells, Ph.D.: Director, Genographic
         Navigenics, Emeritus Clinical Professor of            Project, National Geographic Explorer-in-
         Medicine, Stanford University                         Residence
                                                         Ι     Dietrich Stephan, Ph.D. Navigenics Co-Founder
                                                               and CSO; Deputy Director, TGen

    13
Genetic Counseling Advisory Board                             Policy and Ethics Task Force

Ι        Robin Bennett, M.S., C.G.C., Chair, senior           Ι   Greg Simon, J.D., Chair, President of Faster
         genetic counselor and clinical assistant professor       Cures/the Center for Accelerating Medical
         at the University of Washington; past president,         Solutions, which helps accelerate the
         National Society of Genetic Counselors, recipient        discovery, development and deployment of
         of the NSGC lifetime achievement award.                  new medical treatments; former domestic
                                                                  policy advisor for Vice President Al Gore

Ι        Peggy Conrad, M.S., C.G.C., practicing genetic
         counselor; helped establish the University of San    Ι   Paul Slovic, Ph.D., Founder and President,
         Francisco Familial Gastrointestinal Cancer               Decision Research, a non-profit research
         Program; 10+ years’ experience in clinical and           organization investigating human judgment,
         research aspects of hereditary cancer genetics.          decision-making, and risk
Ι        Kelly Ormond, M.S., C.G.C., Associate                Ι   Amy DuRoss, Vice President, Policy and
         Professor in the Department of Genetics and              Business Affairs at Navigenics. Former Chief
         Director of the Human Genetics and Genetic               of Staff , California Institute for Regenerative
         Counseling graduate training program at Stanford         Medicine; executive director, Proposition 71:
         University; past president, National Society of          California Stem Cell Initiative.
         Genetic Counselors.
Ι        Elissa Levin, M.S., C.G.C., Genetic Counseling
         Program Director at Navigenics; past Clinical
         Director, DNA Direct; previously clinical genetic
         counselor in general and metabolic genetics,
         UCSF and CHOP

    14
   Navigenics – What We Do

CLIA-Certified Lab                          Navigenics                           Physicians

  Receive & process            Scientific and clinical     Genetic              Order tests
  biological samples           curation of literature     Counselors             Release results
                                                                                    Provide follow-up
                       Data                                            Report




                                Personalized, secure
                                     web portal

                               Data analysis & risk
                              estimation algorithms




      Collaborators:                          Collaborators:            Collaborators:




 15
     Scientific Criteria                               Clinical Criteria
Ι     The association is replicated and            Ι   The condition affects > one in 1,000
      published in top-tier journals                   Americans
       •   >60% of independent studies             Ι   The disease/condition must be
Ι     Reasonable sample size to detect                 clinically relevant and “actionable”
      weak effects                                      •   Preventable

       •   OR < 1.5 needs at least 250 cases/250        •   Early screening makes a difference
           controls (most studies have 1000’s)
                                                        •   Lifestyle makes a difference
Ι     Statistically significant result after
                                                        •   Diet makes a difference
      correction for multiple testing
                                                        •   Medication/surgery makes a difference
Ι     Adjustment for population stratification
                                                        •   Affects multiple organ systems
Ι     Supporting evidence:                              •   Impacts other diseases
       •   Adjustment for confounders
                                                   Ι   The risk information must be
       •   Functional data                             clinically/socially responsible
Ι     Well designed study and sound lab                 •   No IQ, athletic propensity, sticky earwax,
      practice




16    August 5, 2008
     Scientific Criteria                               Clinical Criteria
Ι     The association is replicated and            Ι   The condition affects > one in 1,000
      published in top-tier journals                   Americans
       •   >60% of independent studies             Ι   The disease/condition must be
Ι     Reasonable sample size to detect                 clinically relevant and “actionable”
      weak effects                                      •   Preventable

       •   OR < 1.5 needs at least 250 cases/250        •   Early screening makes a difference
           controls (most studies have 1000’s)
                                                        •   Lifestyle makes a difference
Ι     Statistically significant result after
                                                        •   Diet makes a difference
      correction for multiple testing
                                                        •   Medication/surgery makes a difference
Ι     Adjustment for population stratification
                                                        •   Affects multiple organ systems
Ι     Supporting evidence:                              •   Impacts other diseases
       •   Adjustment for confounders
                                                   Ι   The risk information must be
       •   Functional data                             clinically/socially responsible
Ι     Well designed study and sound lab                 •   No IQ, athletic propensity, sticky earwax,
      practice

                             >95% of studies fail to meet our criteria

17    August 5, 2008
 Online Education

     Ι    Set expectations

     Ι    Information/audiovisual tools
            •    Genomics 101
            •    How the process works
            •    Behind the science
            •    How GCs can help
            •    Working with your doctor
            •    About Navigenics
            •    Genetic discrimination
            •    Privacy

     Ι    Informed Consent

     Ι    Access to genetic counselors



18       August 5, 2008
    Transparency
Ι        Disclose all risk estimate
         calculation methods, assumptions
         and limitations –
             For patients and scientists

Ι        Consistent with FDA’s pending
         IVDMIA guidance
             No “black box” algorithms




    19
 5-Step Genetic Risk Assessment and Communication

       1                  2             3              4           5
  Sample                CLIA                         Private     Ongoing
                                   Bioinformatics                Updates
 Acquisition          Laboratory                    Web Portal




                                   2,000 pages




                                   GC Services




20   August 5, 2008
     Receiving Results
                                            Current list of conditions:
         Prior to viewing results:
                                            •   Alzheimer’s Disease
                 1. Introduction tutorial   •   Breast Cancer
                 2. Select conditions       •   Celiac Disease
                                            •   Colon Cancer
                                            •   Crohn’s Disease
                                            •   Diabetes Type 2
                                            •   Glaucoma
                                            •   Grave’s Disease
                                            •   Heart Attack
                                            •   Lupus
                                            •   Macular Degeneration
                                            •   Multiple Sclerosis
                                            •   Obesity
                                            •   Osteoarthritis
                                            •   Psoriasis
                                            •   Prostate Cancer
                                            •   Restless Leg Syndrome
                                            •   Rheumatoid Arthritis



21    August 5, 2008
     Results Overview




22    August 5, 2008
23
                 In-depth condition            Action steps    Condition summary
                     information




August 5, 2008
                                                                                   In-Depth Condition Reports




                      Sharing with physician                  Marker details
     Genetic Counseling

     Ι       Core component of the service

     Ι       Cost included in overall service

     Ι       Access to a certified GC, trained in “genomic risk assessment”

     Ι       Pre-test, post-test, additional access as new data emerges

     Ι       Each patient is assigned a GC to ensure continuity of care
               •    Ordering physician can flag individual results for targeted GC follow-up

     Ι       Focus on patient’s interests and needs:
               •    Understanding results
               •    Family history risk assessment
               •    Review next step options

     Ι       24 hour emergency support available

24       August 5, 2008
Engaging HCPs
     Ι   How to talk to your doctor or
         healthcare provider (HCP)
     Ι   Report for professionals
     Ι   Web portal for HCPs
         (education, ordering…)
     Ι   Provider access to GCs




25
Physician Education


     Ι CME program successfully
       launched with strong
       interest & momentum
     Ι CME article authored by
       Dr. Geoff Ginsburg of Duke
     Ι Currently has generated
       about 6000 Medscape
       member readers, 2500
       applied for credit (MDs,
       nurses, other HCPs)




26    August 5, 2008
      Setting Industry Standards |




 27
27     June 20072008
       August 5,       Navigenics CONFIDENTIAL
Professional Statements on DTC
                                     NSGC POSITIONS STATEMENT:
     Ι   ACMG                   DIRECT TO CONSUMER GENETIC TESTING
                Genetic testing is currently available to consumers without the involvement of the patients’
                          healthcare providers. A growing number of ‘Direct to Consumer’ (DTC) genetic


     Ι
                          testing companies offer tests that may diagnose genetic conditions or carrier status,

         ASHG             and/or tests that aim to predict a person’s chances of developing certain medical
                          disorders. In addition, DTC genetic analysis is available for various non-medical
                          purposes such as ancestry, marketing of “nutrigenomics” products or paternity
                          testing.

     Ι   NSGC   The National Society of Genetic Counselors (NSGC) recognizes that DTC genetic testing may
                         increase access to medical testing services for some individuals. However,
                         individuals seeking genetic information directly from a manufacturer or supplier and
                         without input from a healthcare provider may lack basic and essential knowledge of
                         the purpose and appropriateness of testing, the accuracy and clinical significance of
                         results for themselves and other family members, or the reliability of the laboratory.

                There is limited regulatory oversight of DTC genetic testing services at this time. In order to
                           increase the likelihood that patients receive appropriate genetic testing services
                           through a DTC service delivery model, the NSGC strongly recommends that patients
                           undertaking a direct to consumer genetic testing process assess whether the
                           company has addressed the following issues prior to purchasing a DTC genetic test:

                1.        Are consumer-friendly materials available, developed or reviewed by healthcare
                          professionals with expertise in genetics (e.g. trained genetic counselors) and suitable
                          for individuals seeking and receiving direct-to-consumer testing services?

                2.        Is information disclosed to potential consumers regarding test purpose, potential
                          limitations, validity and accuracy, using language that is written for consumers?

                3.        Will results be given in a manner understandable to the average consumer, with a
                          clear explanation of their clinical implications, if any, and including resources
                          providing appropriate follow-up?

                4.        Are patients encouraged to share their medically relevant genetic test results with
                          their healthcare providers and family members who may also be at risk?

                5.        Are consumer referrals to healthcare professionals with expertise in genetics
                          available, either on staff or independent of the commercial entity, both before and
                          after testing to assure appropriate medical follow up, including psychological
                          counseling as needed?

                6.        Is there a process for obtaining and documenting informed consent in a manner
                          consistent with accepted medical practices as well as state and local regulations?

                7.        What safeguards are in place to protect the consumer/patient privacy?




28
     Setting Industry Standards
         •    Validity of scientific and clinical information provided

         •    Accuracy and quality of testing in a CLIA-certified lab

         •    Clinical relevance of information provided

         •    Actionable next steps for health conditions assessed

         •    Access to genetic counseling by qualified professionals

         •    Security and privacy including consistence with HIPAA regulations

         •    Ownership of genetic information belongs to the individual

         •    Physician education and engagement

         •    Transparency at all levels of the service

         •    Measurement to assess impact on health outcomes

     Navigenics is co-sponsoring an industry standards setting event with the
     Personalized Medicine Coalition and other industry leaders (Dec. 2008)


29    August 5, 2008
     DTC can be done responsibly, but we need…
     Ι       Industry standards at many levels
     Ι       Enhanced education and awareness efforts
               •    Professionals
               •    Consumers

     Ι       Qualified genetics professionals to be involved
               •    Directly as employees
               •    Indirectly as advisors/consultants

     Ι       Research
                    Scientific criteria, clinical utility, psychosocial
                    Different models of genetic service delivery


     Ι       DTC is not right for everyone, but for some it works very well

30       August 5, 2008
     Questions?

        Feel free to contact me at any point with questions!

            Elissa Levin, MS, CGC

            Director, Genetic Counseling Program
            Navigenics

            650-585-7714
            elevin@navigenics.com




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