Transcript 2015_IntroToPersonalGeneticsSlides

Introduction to
Personal Genetics
Personal Genetics Education Project (pgEd)
Harvard Medical School - Wu Laboratory
www.pged.org
2015
A Prion Love Story
• https://www.youtube.com/watch?v=
pA5xUT4Nq3o
• If interested, here is an article about
the couple:
– http://www.newyorker.com/books/page
-turner/a-prion-love-story
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”
Quote sources: New York Times
Photo: www.flickr.com
The Beery twins’ story highlights
the promise of personalized medicine
www.the-scientist.com
The Beery Family
• https://www.youtube.com/watch?v=
yUQFHecs8EQ
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.
www.monashultrasound.com.au
“DNA tests locate genetic branches of
African Americans’ family trees”
www.post-gazette.com
Genome sequencing technology
Applied Biosystems
3730 DNA Analyzers
Oxford Nanopore
MinION
2002
2014
www.flickr.com
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.