Transcript Personal genetics: What it might it means for me, my family and society Personal Genetics Education Project (pgEd) Harvard Medical School www.pged.org National Science Teacher Association.

Personal genetics:
What it might it means for me,
my family and society
Personal Genetics Education Project (pgEd)
Harvard Medical School
www.pged.org
National Science Teacher Association 2013
San Antonio, Texas
One in a billion: Nic Volker
Sequencing solved the mystery of his
devastating illness
http://www.esquire.com/features/ameri
cans-2011/best-of-2011-medicalbreakthrough-1211-15#slide-15
http://thednaexchange.com/2011/12/29/genetics-and-the-year-inreview-my-top-10-stories-of-2011/
“DNA tests locate genetic branches of African
American’s family trees”
http://www.post-gazette.com/stories/life/lifestyle/dna-tests-locate-genetic-branches-onafrican-americans-family-trees-427734/
Photo credit: Steve Mellon
The Havasupai Case and
informed consent
Dana Waring, MA
Co-Founder and Director of Education
Personal Genetics Education Project (pgEd)
Harvard Medical School
www.pged.org
www.pged.org
pgEd’s goal:
To encourage thoughtful discussion
about personal genetics
so people can make informed
choices for themselves, their
families, and society.
Careers in science?
Jim Henson, The Muppets
Guiding questions in all our lessons:
Why does it matter to you?
How do we evaluate risk, and weigh the
risks and benefits about DNA?
Do genes always predict what traits and
conditions we are going to have?
Why is genetics getting
more personal?
• Knowledge about our DNA is becoming more
detailed, inexpensive and widely accessible
• Insights about our health, behavior, family
history and traits grow on a daily basis
• Highly personal information with social, legal
and familial impact is available online and OTC
personal genetics education project
Why is talking with students so urgent?
“Under $1000 dollars in this decade”
“Widely available in the next 5-10 years”
“ Transforming health care for the next generation”
•Average age to marry in the US, 2000-2003: Men 26.7, Women 25.1
•Average age of first-time mothers in the US, 2003: 25.2
Sources: census.gov, cdc.org, NYT
personal genetics education project
Big idea: Connecting genotype and phenotype
You
Genetics
personal genetics education project
Big idea: Connecting genotype and phenotype
You
Genetics
Environment
personal genetics education project
Photo: Reuters
Photo: Evan Hurd
Photo: Reuters
personal genetics education project
Direct to consumer ( DTC) analysis for sale on the internet
Sample traits from Direct-to-consumer genetic testing
company 23andme
What information
would
you like to have
about
your risks for
various diseases?
Might your opinion
change at different
points in your life?
Why personal genome analysis?
• Curiosity about ancestry, family history
• Ideas for medical tests and interventions if I learn I’m at
risk
• To find the right drugs, in the right doses, for my
conditions
• Motivation to my change habits
• Planning for my long term medical and financial needs
• To inform my reproductive decisions
personal genetics education project
Personal genomes:
what are the challenges?
1. How far ahead is the technology of its clinical usefulness?
2. How much information would you want to know?
3. Will fair weight be given to environmental & social factors?
4. How will your genetic information affect your family?
5. How much should we be concerned about discrimination at
work and by insurance companies?
6. How can we ensure access for all?
personal genetics education project
Genetic Information Non-discrimination Act (GINA)
“ The first civil rights legislation of the 21st century”
-Senator Ted Kennedy
personal genetics education project
GINA: Prohibits discrimination in
health insurance and 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.
personal genetics education project
What are some of the big social issues
in personal genetics?
• Athletics and genetic testing – how much can DNA
reveal about ourselves and our potential?
• DNA and the law - Can we use DNA to keep us safe and
preserve civil liberties at the same time?
• How do we decide to use a new reproductive
technology?
pgEd lesson plans: All Common Core aligned, tackle these
issues, active classroom, all free!
WANT TO PILOT A LESSON?
What might a “sports gene test” tell us?
www.nytimes.com/2008/11/30/sports/30genetics.htmlpersonal genetics education
Image via NYT/Chang W. Lee
Image via indiadaily.com
What leads to excellence in sports:
Genes? Environment? Training? Drive?
Image via www.womanzworld.com
Image via nhl.com
Connections between genetics
and athletics?
• There are genes involved with collagen production
that are thought to be useful in predicting certain
types of soft tissue injuries.
• A small study indicates a possible link between
having the ApoE4 variant and increased risk of
severe effects from a concussion.
• What is the predictive power of these
variants? (genetics vs. environment)
personal genetics education project
ApoE4 and concussions:
A new area of inquiry
• ApoE4 variant is also associated with
Alzheimer’s disease (AD).
• People with one copy of the variant, ApoE4,
have 3x higher risk for AD.
• People with two copies of the ApoE4 variant
have 15X higher risk for AD.
personal genetics education project
ApoE4 and concussion risks?
• How does one weigh the benefits and risks of knowing
about one’s genetic status related to AD?
• Would you want to test your child to help decide which
sports to possibly avoid or to pursue? How much does the
genetic component matter?
• Is this a family decision? Why or why not?
personal genetics education project
DNA and society:
New ways to use DNA to solve crimes
http://www.scientificamerican.com/article.cfm?id=portrait-in-dna
personal genetics education project
Scientific American 2011
DNA as identification tool:
beyond individual crimes
personal genetics education project
DNA collections used to prove
innocence
• The Innocence Project: Exonerated 274 people, 17 of these
exonerations were death row inmates
• 70% of exonerations have been people from minority
groups
www.innocenceproject.org
personal genetics education project
“A Not So Perfect Match”
The Darryl Hunt case on 60 Minutes
Journal Photo by David Sandler)
personal genetics education project
PGD being performed on a 3-day old embryo
Image via http://www.obgyn.net/Frontiers_In_Reproductive_Medicine/images/PGD.gif
personal genetics education project
What is preimplantation genetic
diagnosis (PGD)?
• PGD is a method to test for certain genetic traits in an
embryo, almost always for genetic disease.
• An embryo is created via in vitro fertilization.
• Genetic testing occurs when embryo is 2-4 days old,
typically at the 8-cell stage.
• A single cell is removed and tested.
• The results of testing are used to decide which embryos,
if any, to implant in prospective mother’s uterus.
personal genetics education project
Molly and Adam Nash
Fanconi anemia (disorder of DNA repair)
Cure: PGD, umbilical cord blood
stem cells
http://tvnoviny.sk/sekcia/spravy/zahranicne/vo-francuzsku-sa-narodilo-prve-dizajnerske-dieta.html
Public attitudes regarding PGD
Men
Women
Fatal Transplants
Adult
illness
Gender Strength &
Intelligence
Hudson 2006 Fertility & Sterility
Opinion poll: What role, if any, should the US
government play in regulating preimplantation
genetic diagnosis (PGD)?
Supports no
government
regulation
Thinks government
should regulate
ethics
only
Believes
government
should regulate
safety, quality
and ethics
Wants a total ban
on PGD
Supports
government
regulation of
safety and
quality
Discussion Questions
• What are the potential opportunities and
challenges of PGD?
• Now that we’ve discussed the issue a bit, did
you change your opinion about whether you’d
want to choose certain traits for your child?
• If your parents used this on you - should they
tell you? Or is it no big deal?
• Do we need rules to guide how this is used? If
yes, what sort of rules? Whose job would it be to
enforce them?
personal genetics education project
www.Map-Ed.org
5 questions, no genetics expertise needed.
Map pictured is 14 days post Map-Ed launch