Slide 1

Personal Genomics,
Personalized Medicine,
Carrie Iwema, PhD, MLS
21st May 2012
AAAS/Science Translational Medicine
panel discussion; MLA 2012
Timeline: Human Genome Sequence
$24 K
15 days
$2.7 B
13 yrs
Human Genome
Draft Sequence
Individual Human
Diploid Genome
1st sequenced
genome of a
free living
Complete Human
Reference Genome
Jim Watson’s
$1 M
1 mth
15 mins
HSLS, U.Pitt
Personal Genome Project
HSLS, U.Pitt
Why get genetic testing?
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
Planning for my long
term medical and
financial needs
I want to use my
genome as a social
networking tool
I am an early adopter
and information altruist
Might reveal details of
my family tree and
To inform my
reproductive decisions
Motivation to
change my habits
personal genetics education project (link)
HSLS, U.Pitt
DTC: Major Companies (20-30K scans in 2009)
• 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
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Gene Chips
(“science” occurs)
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SNP: single nucleotide polymorphism
– DNA sequence variations that occur when a single
nucleotide (A, C, T, G) in the genome sequence is
– 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
HSLS, U.Pitt
GWAS: Genome Wide Association Studies
• 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 &
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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
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Example—breast cancer
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
– Herceptin targets ONLY cancerous cells, thus
eliminating need to administer large drug doses
– Identification of ONLY patients w/gene overexpression, thus preventing unnecessary treatments
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Congress & DTC
– 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
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Suggested Regulation
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 claims
Regulating 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
HSLS, U.Pitt
How much
should we fear
discrimination at
work and with
What are the
privacy concerns
for individual
and families?
How realistic
are promises of
How can we
ensure access for
all who want to
be sequenced?
Will fair weight
given to
environmental &
social factors?
What surprises
and secrets might
be revealed?
How far ahead is
the technology of its
clinical usefulness?
personal genetics education project (link)
HSLS, U.Pitt
GINA: Prohibits genetic discrimination
in health insurance & employment
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.
Genetic Information Non-discrimination Act
May 2008
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To take a genetic test or not—that is the question…
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;
– Final decision
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personal genetics
education project
Impact on Family
Early adopter
Dad already
signed up
to get
Mom the worrier
says no
Uncle Bill
Aunt Erma worried
about losing her
insurance because
of her son’s DNA
Your kids
Grandma is
gone, but a
of her DNA
still exists…
Cousin Betty
wants to donate
her sequence to
science and
make it totally
Your potential kid?
HSLS, U.Pitt
I’m doing it!
So you’ve got your
sequence…now what?
• 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
HSLS, U.Pitt
HSLS, U.Pitt
Thanks for your attention.
Carrie Iwema, PhD, MLS
Information Specialist in Molecular Biology
Health Sciences Library System
University of Pittsburgh
[email protected]

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