What is personal genetics?
What might it mean for me, my family and society?
Personal Genetics Education Project (pgEd)
Harvard Medical School
www.pged.org
Do Now:
Discuss with the following questions with the person
(or people) next to you -
1.What are the potential benefits to knowing
more about your genetic predisposition to
disease?
2.What are the possible negatives to knowing?
3.Why are some people very interested in
learning more about their DNA and others
don’t want to know anything?
Why is genetics getting more personal?
Because learning about our own
DNA is rapidly becoming
inexpensive and accessible
• Insights about our health, behavior, family history
and other traits
• Highly personal information with personal, social
and familial impact
• Genetic testing available directly to consumers
personal genetics education project
Why does this matter to you?
“Under $1000 dollars in this decade”
“Widely available in the next 5-10 years”
“Transforming health care for the next generation”
Sources: New York Times
personal genetics education project
Technological Advances
ENIAC
iPad
1946
2012
Genome Sequencing Technology
Applied Biosystems 3730
DNA Analyzers
Oxford Nanopore MinION
2002
2012
Why personal genome analysis?
For people who are healthy:
• To learn about my future health risks:
• Motivation to change my habits (ex: cancer screenings)
• Planning for future (ex: medical and financial needs)
• To inform my reproductive decisions
• To explore my ancestry, family history
personal genetics education project
Revealing our personal genomes
Our genomes are over 99% identical
Remaining <1% difference => GENETIC VARIATION
personal genetics education project
Revealing our personal genomes
Our genomes are over 99% identical
Remaining <1% difference => GENETIC VARIATION
Terminology: How do we talk about our genetic differences?
MUTATIONS
VARIANTS
personal genetics education project
Revealing our personal genomes
Our genomes are over 99% identical
Remaining <1% difference => GENETIC VARIATION
Terminology: How do we talk about our genetic differences?
MUTATIONS
VARIANTS
personal genetics education project
A major goal of genetics research is to understand the relationship
between your DNA and your traits
?
http://www.flickr.com/photos/w4nd3rl0st/6789227039
http://www.flickr.com/photos/wellcomeimages/
5814818738/sizes/l/in/photostream/
Appearance
Behavior
Health
personal genetics education project
Even identical twins are different:
DNA alone does not determine who we are
http://www.flickr.com/photos/wellcomeimages/
5814818738/sizes/l/in/photostream/
http://www.flickr.com/photos/w4nd3rl0st/6789227
039
Appearance
Behavior
Health
http://www.flickr.com/photos/barl0w/3036412907
Environment and
Social Factors
personal genetics education project
A true story highlights the promise
of personalized medicine
http://www.nature.com/news/2011/110615/full/news.2011.368.html
personal genetics education project
Direct-to-consumer analysis for sale on the internet
Personal genomes: what are the challenges?
1. How far ahead is the technology of its clinical usefulness?
2. How much might this information impact you and your family?
3. Will fair weight be given to environmental & social factors?
4. How much should we be concerned about discrimination at
work and by insurance companies?
5. How can we ensure access for all?
personal genetics education project
Four Corners activity
People won’t be able to handle the
information they learn from DNA
tests without counseling from a
doctor or other professional.
People should have the right to
learn whatever they want to
about their DNA because it is
their own body.
I would only want to find out
my likelihood of developing
a disease if there are ways
to prevent or treat it.
I should get permission from my
parents and siblings before learning
about my DNA and my risks for
disease because this information
impacts them as well.
Parents should be able to find
out about their children’s DNA
before they turn 18.
I would want to know if someone
I was dating had a genetic
condition that would likely cause
a serious disease.