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www.scienceboard.net
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics
Tamara Zemlo, Ph.D., MPH
Executive Director
The Science Advisory Board
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
The Science Advisory Board
• Online community of life science professionals
• Organized by BioInformatics, LLC, a research and consulting firm in Arlington, VA
• Launched November 1997
• Influence development of tools & technologies
• Communicate with colleagues on a global scale
• 26,000+ members
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Technology Needs
Product Usage
Emerging Trends
Best Practices
New Product Availability
Technology Innovations
Opportunities: Information Exchange
Through the Internet, The Science Advisory Board facilitates this multilayer, bilateral communication effectively and efficiently.
The Science Advisory
Board
BlogsForum PostsPerspectives
Product Reviews
In-Depth InterviewsFocus GroupsInstant PollsSurveys
Life Science Companies
Scientists
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Pharmacogenomics: Perspectives from the Bench and the Bedside
• Study sponsored by The Science Advisory Board
• Provide insights into technologies, challenges and opportunities of SNP-based pharmacogenomics research
• Conducted in June 2005
• 34-question survey
• Over 500 respondents
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Personalized Medicine
What is it?Developing drugs on the basis of individual genetic differences
How does it work? Tailoring therapies to genetically similar subpopulations results
in improved efficacy and less toxicity
What is it based upon?Pharmacogenomics = Pharmacology + Genomics
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Pharmacogenomics
The study of genome-derived data to predict a body’s response to a drug or susceptibility to a disease:
• Human genetic variation in DNA– Single nucleotide polymorphisms (SNPs)– Copy number differences– Insertions– Deletions– Duplications– Rearrangements
• RNA and protein expression differences
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
SNPs
• Occur when a single nucleotide (A,T,C,or G) in the genome sequence is altered, e.g., AAGGCTAA to ATGGCTAA
• Comprise 90% of all human genetic variation
• Exist every 100 to 300 bases along the 3-billion-base human genome
• Found in both coding (i.e., gene) and noncoding regions of the genome.
• Usually have no effect on cell function, but some could predispose people to disease or influence their response to a drug
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Ethical Hotspots
Economic
Research
Social
Clinical
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
EconomicResearch Clinical Social
Ethical Issues: Research
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
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
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
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.
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
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
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
EconomicResearch Clinical Social
Ethical Issues: Clinical
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Clinical Issues
Putting Testing into Practice:
• Who should be offered testing?
• What training or certification should be required to administer, interpret and explain tests?
• How should tests be integrated into the current standard of care?
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Clinical Issues
Confidentiality
Privacy
Patient Record
Family History
PharmacogenomicsProfile
CurrentHealth Status
Manage
Protect
Create
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
EconomicResearch Clinical Social
Ethical Issues: Social
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Social Issues
• Impact of individual allelic variations on identity (i.e., diversity and ethnicity)
• Effect(s) on health care inequalities
Will more information make our world a better place?
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Social Issues
Challenges:
• Preventing discrimination: Insurance
Jobs Educational opportunities
• Legal implications: RegulationEnforcementProsecutionRestitution
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Social Issues
• Will I develop this disease ten years from now?
• Do I want to know my susceptibility to this incurable disease?
• Can I indulge in unhealthy habits (e.g., smoking, junk
food, not exercising, etc.) if I don’t have a particular disease susceptibility?
Health Horoscope
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
EconomicClinicalResearch Social
Ethical Issues: Economic
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Economic Issues
Pharmaceutical Business Decisions:
• Deciding which pharmacogenomics profile(s) to develop therapies for (e.g., fate of “orphan polymorphisms”)
• Hoarding SNP mutations to gain a market advantage
What are the public health consequences of these decisions?
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Economic Issues
Unknown Costs:
• Pharmacogenomics testing
• Unnecessary preventative interventions (e.g., surgery, prophylaxis, etc.)
• Impact of healthier, aging population on economy
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics www.scienceboard.net
Individuals and Society
New opportunities for discrimination
Eroding privacy and confidentiality
Increasing cost of heath care
Creating feelings of fatalism and helplessness
Rising disparities betweeninsured and under- and uninsured
Accelerated drug development
Simplified clinical trials
Reduced adverse events
Powerful, customized drugs
Effective disease prevent strategies
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