Personalized Medicine: Balancing the Promise and Peril of ... Personalized Medicine: Balancing the...

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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

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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

• 34-question survey

• Over 500 respondents

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

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

• 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

Ethical Hotspots

Economic

Research

Social

Clinical

EconomicResearch 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

Ethical Issues: Clinical

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?

Clinical Issues

Confidentiality

Privacy

Patient Record

Family History

PharmacogenomicsProfile

CurrentHealth Status

Manage

Protect

Create

Ethical Issues: Social

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?

Social Issues

Challenges:

• Preventing discrimination: Insurance

Jobs Educational opportunities

• Legal implications: RegulationEnforcementProsecutionRestitution

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

EconomicClinicalResearch Social

Ethical Issues: Economic

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?

Economic Issues

Unknown Costs:

• Pharmacogenomics testing

• Unnecessary preventative interventions (e.g., surgery, prophylaxis, etc.)

• Impact of healthier, aging population on economy

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

HelpHarm

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