Post on 02-Jan-2016
Personal Genomics, Personalized Medicine, &
YOUCarrie Iwema, PhD, MLS
21st May 2012AAAS/Science Translational
Medicine panel discussion; MLA 2012
Timeline: Human Genome Sequence
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1995
2014
2000
2003
2007
2007
2010
Human Genome Draft
Sequence
Complete Human Reference Genome
Individual Human
Diploid Genome
Jim Watson’s Genome
$2.7 B13 yrs
$24 K15
days
$1 M1
mth
$1K15
mins
1st sequenced
genome of a free living organism:
Haemophilus
Influenzae
Personal Genome Project
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Why get genetic testing?
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Ideas for more tests and interventions if I
learn I’m at risk
To find the right drugs, in the right
doses, for my conditions
Motivation to change my
habits
Might reveal details of my family tree and genealogy
Planning for my long term medical and
financial needs
I am an early adopter and
information altruist
I want to use my genome as a social
networking tool
To inform my reproductive decisions
personal genetics education project (link)
• 23andMe: genetics just go personal.
– Ancestry Edition $399– Health Edition $429
• Navigenics: clinically guided genetic analysis– Prices vary; special rates through
physicians/employer
• Pathway Genomics: The Value of Knowing– Must be ordered through a U.S. physician registered
w/PG
• deCODEme: deCODE your health– Complete scan (47 conditions) $2,000
DTC: Major Companies (20-30K scans in 2009)
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$99+
Gene Chips (“science” occurs)
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SNP: single nucleotide polymorphism
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– DNA sequence variations that occur when a single nucleotide (A, C, T, G) in the genome sequence is altered
– Variations in DNA sequence have an impact on how humans respond to disease
– Must occur in at least 1% of the population
– SNP maps help identify genes associated with complex ailments
• NIH-supported research• January 2008• Comparison of genomes to
determine individual variations
• dbGAP = database of Genotype & Phenotype (NCBI)
• Results will help develop better diagnostic tools & treatments
GWAS: Genome Wide Association Studies
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Next Gen Sequencing (NGS)
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• How an individual’s genetic inheritance affects the body’s response to drugs
– More powerful medicines– Better, safer drugs appropriately
matched to patients– More accurate drug dosages– Advanced screening for disease– Better vaccines– Decrease in overall health care costs– Improvements in drug discovery & approval process
Pharmacogenomics
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• HER2 oncogene • Over-expressed in 25-30% patients• Results in increase in replication of cancer
cells• Treat w/Herceptin, a monoclonal antibody that
inhibits HER2
BENEFITS– Herceptin targets ONLY cancerous cells, thus
eliminating need to administer large drug doses– Identification of ONLY patients w/gene over-
expression, thus preventing unnecessary treatments
Example—breast cancer
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– Walgreens, Pathway
Genomics, & FDA (May 2010)
– Government Accountability Office (GAO)• 22 July 2010• DTC genetic testing companies provide “results that are
misleading and of little or no practical use.”• Companies: 23andMe, Navigenics, Pathway Genomics
+ others
– Degree of Regulation vs Public Right to Personal Info
Congress & DTC
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1. Ensure appropriate info & consent
procedures
2. Formal laboratory accreditation
3. Evidence of a valid gene-disease association
4. Appropriately qualified staff to interpret the test result
5. Consumer protection legislation to prevent false or misleading claimsRegulating direct-to-consumer genetic tests: What is all the fuss about?Wright CF, Hall A, Zimmern RL.Genet Med. 2010 Oct 1. [Epub ahead of print] PMID: 20921893
Suggested Regulation
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Challenges
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What are the privacy concerns
for individual and families?
How much should we fear
discrimination at work and with
insurance?
How far ahead is the technology of its
clinical usefulness?
Will fair weight given to
environmental & social factors?
How can we ensure access for all who want to be
sequenced?
What surprises and secrets might
be revealed?
How realistic are promises of
anonymity?
personal genetics education project (link)
GINA: Prohibits genetic discrimination in health insurance & employment
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Title 1: Prohibits discrimination in group and individual health insurance plans. Forbids genetic information being used to deny coverage, adjust premiums, or require someone to take a genetic test.
Title 2: Prohibits employers from using genetic information to make hiring, firing or promotion decisions. Severely limits employers rights to request, require, or purchase an employee’s genetic information.
California…Genetic Information Non-discrimination Act May 2008
Newsweek August 2-6, 2010
– Mary Carmichael—”DNA Dilemma”– What can be learned from these tests?
• Conclusion: tests can be educational, but medical value is debatable
– How reliable are they and how will I react?• Conclusion: carefully choose the company, avoid
hype, engage w/your data, consult w/expert(s), recognize still early days of personal genomics
– Should these tests even be on the market?• Conclusion: regulation is inevitable, but to what
extent; individuals have the right to access their own genetic info; transparency
– Final decision
To take a genetic test or not—that is the question…
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Mom the worrier
You
Crazy Uncle Bill
Skeptical brother
Early adopter sister
Dad already signed up to get sequenced
Grandpa says no way!
Aunt Erma worried about losing her insurance because of her son’s DNA sequence
Cousin Betty wants to donate her sequence to science and make it totally public
Grandma is gone, but a sample of her DNA still exists…
Impact on Family
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personal genetics education project (
link)
Your kids
Your potential kid?
• Talk to the company’s genetic counselors
• Talk to your physician• Do it yourself…?
– SNPedia: wiki investigating human genetics
– Promethease: uses SNPedia to analyze & help explain your DNA
I’m doing it!
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So you’ve got your sequence…now what?
Resources
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Thanks for your attention.
Carrie Iwema, PhD, MLSInformation Specialist in Molecular
BiologyHealth Sciences Library System
University of Pittsburghiwema@pitt.edu