Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics Tamara Zemlo, Ph.D., MPH Executive Director The...
The Science Advisory Board <ul><li>Online community of life science professionals </li></ul><ul><li>Organized by BioInform...
Opportunities: Information Exchange Technology Needs Product Usage Emerging Trends Best Practices New Product Availability...
Pharmacogenomics:  Perspectives from  the Bench and the Bedside <ul><li>Study sponsored by The Science Advisory Board  </l...
Personalized Medicine <ul><li>What is it? </li></ul><ul><li>Developing drugs on the basis of individual genetic difference...
Pharmacogenomics <ul><li>The study of genome-derived data to predict a body’s response to a drug or susceptibility to a di...
SNPs <ul><li>Occur when a single nucleotide (A,T,C,or G) in the genome sequence is altered, e.g., A A GGCTAA to A T GGCTAA...
Ethical Hotspots Economic Pandora Research Social Clinical
Economic Research Clinical Social Ethical Issues: Research
Research Issues Deciding on a Research Focus: •  Single gene (i.e., easier to treat)  •  Polygenic diseases and/or disorde...
Research Issues Demonstrating Utility: Just because a mutation is associated with a specific disease does not mean its gen...
Research Issues •  Narrower target population could exclude those who might also benefit from therapies  •  Evaluating the...
Economic Research Clinical Social Ethical Issues: Clinical
Clinical Issues <ul><li>Putting Testing into  Practice : </li></ul><ul><li>Who should be offered testing? </li></ul><ul><l...
Clinical Issues Family History Pharmacogenomics Profile Manage Protect Create Confidentiality Privacy Patient Record Curre...
Economic Research Clinical Social Ethical Issues: Social
Social Issues <ul><li>•  Impact of individual allelic variations on identity (i.e., diversity  and ethnicity) </li></ul><u...
Social Issues Challenges: •  Preventing discrimination:  Insurance Jobs Educational opportunities •  Legal implications:  ...
Social Issues <ul><li>Will I develop this disease ten years from now? </li></ul><ul><li>•  Do I want to know my susceptibi...
Economic Clinical Research Social Ethical Issues: Economic
Economic Issues <ul><li>Pharmaceutical Business Decisions: </li></ul><ul><li>Deciding which pharmacogenomics profile(s) to...
Economic Issues <ul><li>Unknown Costs: </li></ul><ul><li>Pharmacogenomics testing </li></ul><ul><li>Unnecessary preventati...
Individuals and Society <ul><li>New opportunities for  </li></ul><ul><li>discrimination </li></ul><ul><li>Eroding privacy ...
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Personalized Medicine: Balancing the Promise and Peril of ... Personalized Medicine: Balancing the Promise and Peril of ...

  1. 1. Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics Tamara Zemlo, Ph.D., MPH Executive Director The Science Advisory Board
  2. 2. The Science Advisory Board <ul><li>Online community of life science professionals </li></ul><ul><li>Organized by BioInformatics, LLC, a research and consulting firm in Arlington, VA </li></ul><ul><li>Launched November 1997 </li></ul><ul><li>Influence development of tools & technologies </li></ul><ul><li>Communicate with colleagues on a global scale </li></ul><ul><li>26,000+ members </li></ul>
  3. 3. Opportunities: Information Exchange Technology Needs Product Usage Emerging Trends Best Practices New Product Availability Technology Innovations Through the Internet, The Science Advisory Board facilitates this multilayer, bilateral communication effectively and efficiently. The Science Advisory Board Blogs Forum Posts Perspectives Product Reviews In-Depth Interviews Focus Groups Instant Polls Surveys Life Science Companies Scientists
  4. 4. Pharmacogenomics: Perspectives from the Bench and the Bedside <ul><li>Study sponsored by The Science Advisory Board </li></ul><ul><li>Provide insights into technologies, challenges and opportunities of SNP-based pharmacogenomics research </li></ul><ul><li>Conducted in June 2005 </li></ul><ul><li>34-question survey </li></ul><ul><li>Over 500 respondents </li></ul>
  5. 5. Personalized Medicine <ul><li>What is it? </li></ul><ul><li>Developing drugs on the basis of individual genetic differences </li></ul><ul><li>How does it work? </li></ul><ul><li>Tailoring therapies to genetically similar subpopulations results in improved efficacy and less toxicity </li></ul><ul><li>What is it based upon? </li></ul><ul><li>Pharmacogenomics = Pharmacology + Genomics </li></ul>
  6. 6. Pharmacogenomics <ul><li>The study of genome-derived data to predict a body’s response to a drug or susceptibility to a disease: </li></ul><ul><li>Human genetic variation in DNA </li></ul><ul><ul><li>Single nucleotide polymorphisms (SNPs) </li></ul></ul><ul><ul><li>Copy number differences </li></ul></ul><ul><ul><li>Insertions </li></ul></ul><ul><ul><li>Deletions </li></ul></ul><ul><ul><li>Duplications </li></ul></ul><ul><ul><li>Rearrangements </li></ul></ul><ul><li>RNA and protein expression differences </li></ul>
  7. 7. SNPs <ul><li>Occur when a single nucleotide (A,T,C,or G) in the genome sequence is altered, e.g., A A GGCTAA to A T GGCTAA </li></ul><ul><li>Comprise 90% of all human genetic variation </li></ul><ul><li>Exist every 100 to 300 bases along the 3-billion-base human genome </li></ul><ul><li>Found in both coding (i.e., gene) and noncoding regions of the genome. </li></ul><ul><li>Usually have no effect on cell function, but some could predispose people to disease or influence their response to a drug </li></ul>
  8. 8. Ethical Hotspots Economic Pandora Research Social Clinical
  9. 9. Economic Research Clinical Social Ethical Issues: Research
  10. 10. Research Issues Deciding on a Research Focus: • Single gene (i.e., easier to treat) • Polygenic diseases and/or disorders (i.e., harder to treat) Consequence: Potential to develop drugs for a specific genotype that are harmful to other genotypes
  11. 11. Research Issues Demonstrating Utility: Just because a mutation is associated with a specific disease does not mean its gene would make an effective drug target.
  12. 12. Research Issues • Narrower target population could exclude those who might also benefit from therapies • Evaluating therapies in smaller, targeted trials might miss critical, albeit rare, adverse drug events Translating
  13. 13. Economic Research Clinical Social Ethical Issues: Clinical
  14. 14. Clinical Issues <ul><li>Putting Testing into Practice : </li></ul><ul><li>Who should be offered testing? </li></ul><ul><li>What training or certification should be required to administer, interpret and explain tests? </li></ul><ul><li>How should tests be integrated into the current standard of care? </li></ul>
  15. 15. Clinical Issues Family History Pharmacogenomics Profile Manage Protect Create Confidentiality Privacy Patient Record Current Health Status
  16. 16. Economic Research Clinical Social Ethical Issues: Social
  17. 17. Social Issues <ul><li>• Impact of individual allelic variations on identity (i.e., diversity and ethnicity) </li></ul><ul><li>Effect(s) on health care inequalities </li></ul>Will more information make our world a better place?
  18. 18. Social Issues Challenges: • Preventing discrimination: Insurance Jobs Educational opportunities • Legal implications: Regulation Enforcement Prosecution Restitution
  19. 19. Social Issues <ul><li>Will I develop this disease ten years from now? </li></ul><ul><li>• Do I want to know my susceptibility to this incurable disease? </li></ul><ul><li>• Can I indulge in unhealthy habits (e.g., smoking, junk </li></ul><ul><li>food, not exercising, etc.) if I don’t have a particular disease susceptibility? </li></ul>Health Horoscope
  20. 20. Economic Clinical Research Social Ethical Issues: Economic
  21. 21. Economic Issues <ul><li>Pharmaceutical Business Decisions: </li></ul><ul><li>Deciding which pharmacogenomics profile(s) to develop therapies for (e.g., fate of “orphan polymorphisms”) </li></ul><ul><li>Hoarding SNP mutations to gain a market advantage </li></ul>What are the public health consequences of these decisions?
  22. 22. Economic Issues <ul><li>Unknown Costs: </li></ul><ul><li>Pharmacogenomics testing </li></ul><ul><li>Unnecessary preventative interventions (e.g., surgery, prophylaxis, etc.) </li></ul><ul><li>Impact of healthier, aging population on economy </li></ul>
  23. 23. Individuals and Society <ul><li>New opportunities for </li></ul><ul><li>discrimination </li></ul><ul><li>Eroding privacy and </li></ul><ul><li>confidentiality </li></ul><ul><li>Increasing cost of heath </li></ul><ul><li>care </li></ul><ul><li>Creating feelings of </li></ul><ul><li>fatalism and helplessness </li></ul><ul><li>Rising disparities between </li></ul><ul><li>insured and under- and </li></ul><ul><li>uninsured </li></ul><ul><li>Accelerated drug development </li></ul><ul><li>Simplified clinical trials </li></ul><ul><li>Reduced adverse events </li></ul><ul><li>Powerful, customized drugs </li></ul><ul><li>Effective disease prevent strategies </li></ul>Balance Help Harm

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