Personalized Medicine: Balancing the Promise and Peril of ... Personalized Medicine: Balancing the Promise and Peril of ...Presentation Transcript
Personalized Medicine: Balancing the Promise and Peril of Pharmacogenomics Tamara Zemlo, Ph.D., MPH Executive Director The Science Advisory Board
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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
Over 500 respondents
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
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
RNA and protein expression differences
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
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
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 disorders (i.e., harder to treat) Consequence: Potential to develop drugs for a specific genotype that are harmful to other genotypes
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.
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
Economic Research Clinical Social Ethical Issues: Clinical
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?
Clinical Issues Family History Pharmacogenomics Profile Manage Protect Create Confidentiality Privacy Patient Record Current Health Status
Economic Research Clinical Social Ethical Issues: Social
• 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?
Social Issues Challenges: • Preventing discrimination: Insurance Jobs Educational opportunities • Legal implications: Regulation Enforcement Prosecution Restitution
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?
Economic Clinical Research Social Ethical Issues: Economic
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?