Introduction to
Personal Genetics
Personal Genetics Education Project (pgEd)
Harvard Medical School - Wu Laboratory
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 (chance of
developing) a disease?
2. What are the possible downsides to knowing?
3. Aside from health and medical information, what
else might you be curious to learn about from
your DNA?
Genetics is getting more personal
because learning about our own
DNA is rapidly becoming
inexpensive and accessible.
DNA analysis can provide:
• Insights about our health, behavior, family history
and other traits.
• Highly personal information with personal, social
and familial impact.
• Information about genes and traits directly to
consumers.
Why might personal genetics matter to you?
“Under $1,000 dollars in this decade”
“Widely available in the next 5-10 years”
“Transforming health care for the next generation”
Photo: http://www.flickr.com/photos/jameshart/3216713992/sizes/s/in/photostream/
Quote sources: New York Times
The Beery twins’ story highlights the promise
of personalized medicine
http://the-scientist.com/author/lucy-reading/ (2011)
Personal choices based on
genetic information
• Angelina Jolie reveals
she chose to undergo a
double mastectomy.
• Jolie had a genetic test
and found she carried a
mutation in the BRCA1
gene. Doctors
estimated there was a
very high chance she
would get breast cancer.
Getty Images
Non-Invasive Prenatal Testing (NIPT)
• Fetus and mother
share a blood supply.
• Fetal cells release
DNA that enters the
maternal bloodstream.
• Maternal blood now
contains a mixture of
maternal cell-free
DNA and fetal cell-free
DNA.
http://www.monashultrasound.com.au/images/NIPT_clip_image003.jpg
“DNA tests locate genetic branches
of African American’s family trees”
http://www.post-gazette.com/stories/life/lifestyle/dna-tests-locate-geneticbranches-on-african-americans-family-trees-427734/
Photo credit: Steve Mellon
Genome sequencing technology
Applied Biosystems
3730 DNA Analyzers
Oxford Nanopore
MinION
2002
2014
http://www.flickr.com/photos/jurvetson/57080968/
https://www.nanoporetech.com
Direct-to-consumer analysis for sale
on the internet
The “lighter side” of DNA analysis
Health-related risks sold directly to consumers:
an evolving landscape
Challenges in personal genetics
1. Clinical utility: How likely is it you or your doctor can
take action based on genetic information?
2. How much might this information impact you and
your family?
3. How can we ensure access for everyone?
4. Will people understand that our environment (health
care, family, society, etc.) also shapes who we are?
Four Corners
activity
People should get counseling
from a doctor or genetic
counselor when they get
genetic testing because they
will not be able to handle the
information otherwise.
People should have the right
to learn whatever they want
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.
Parents undergoing in vitro
fertilization should have the
option to screen embryos
for mutations likely to
cause a serious disease.
Parents should be able to
choose a child’s traits,
such as eye color and sex,
for non-medical reasons.
Employers should use
genetic information to make
hiring or firing decisions
about employees.
Parents should be able to find
out whatever they would like
about their children’s DNA
before they turn 18.
I would want to know if
someone I was dating had a
strong genetic predisposition
to a serious disease.