Transcript Today’s topics: What is personal genetics

Personal genetics
What might it mean for me, my family and society?
NSTA-Atlanta, November 1, 2012
Personal Genetics Education Project (pgEd)
Harvard Medical School
www.pged.org
http://www.nature.com/news/rapid-test-pinpoints-newborns-genetic-diseases-in-days-1.11527
Dana Waring, MA
Co-Founder and Director of Education
Personal Genetics Education Project (pgEd)
Harvard Medical School
[email protected]
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.
pgEd’s big questions for students:
Why does it matter to you, your family,
and society?
How do we evaluate risk, and weigh the
risks and benefits about learning about
our DNA?
Complex, multifactor traits: This is the
norm!
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
Todays agenda – Lesson plans
highlights
Key scientific concepts
Genes and sports performance
DNA and crime
Reproductive technology
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
Personal genome sequencing:
Vision for personalized medicine
Diagnosis
Treatment
Disease risk
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
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One in a billion: Nic Volker
http://www.jsonline.com/features/health/111224104.html
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Direct to consumer (DTC) analysis for sale on the internet
Big idea: Connecting genotype and phenotype
You
Genetics
personal genetics education project
Big idea: Connecting genotype and phenotype
You
Genetics
Environment
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Photo: Reuters
Photo: Evan Hurd
Photo: Reuters
personal genetics education project
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
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GINA: Prohibits genetic 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
Genetics and sports:
How might personal genetics transform
athletics?
Personal Genetics Education Project (pgEd)
Harvard Medical School
www.pged.org
What might a “sports gene test” tell us?
www.nytimes.com/2008/11/30/sports/30genetics.html
personal genetics education project
Do Now
Answer the following questions:
Do you wish your parents had genetically tested
you as a child to see if there is a certain sport at
which you might excel, or to see if you had a
special gift for musical ability? Why or why not?
What could be a benefit and what could be a
disadvantage to knowing this at an early age?
(Note: There is a test for a “sports gene,” though a test for
musical ability does not exist)
Image via NYT/Chang W. Lee
Ronald Martinez/Getty Images
What leads to excellence in sports:
Genes? Environment? Training? Drive?
Image via www.womanzworld.com
Image via nhl.com
Examples of a connection between genetics
and athletics
• There is a version of the so-called “speed” gene
ACTN3 that may be linked to sprinting ability. Most
elite sprinters have at least one copy of this gene.
• A small study indicates a possible link between
having the ApoE4 version of the gene and increased
risk of severe effects from a concussion.
• How much can these genes predict? (genetics vs.
environment)
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Michael Phelps and
Usain Bolt:
Do their genes make
them different?
Photo via www.michaelphelps.net
Photo: Matt Dunham AP
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“Speed gene”: ACTN3
• The gene ACTN3 produces a protein – a-actinin 3 - that
helps contractions occur in fast-twitch muscle fibers
• There is a version of ACTN3 linked to sprinting ability.
• ~95% of elite sprinters have at least one copy of this
version of the gene.
• ~80% of general population also has at least one copy of
this version also.
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Direct-to-consumer testing for sports
•Companies are currently selling tests that look for these
variants and others to try to predict a
person’s
risk for sports injuries and athletic ability.
•Target audiences are athletes, parents, coaches and
trainers.
•There is much controversy about how predictive of
athletic ability these tests really are and how
forthcoming companies have been in disclosing what
the test may reveal (link between ApoE4 variant and
increased Alzheimer’s risk).
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Discussion questions:
•Is genetic testing to predict performance useful? Fair? How fine is
the line between testing for injury prevention and testing for
performance potential?
•Fixing a torn tendon or a broken bone is uncontroversial. What
about improving on an already healthy muscle, tendon, eyeball,
etc.? Is this the logical next step?
•How do we decide for which medical/disease traits we screen
athletes? What are the priorities?
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Debating the ethical questions about
genetics and reproduction
Personal Genetics Education Project (pgEd)
Harvard Medical School
www.pged.org
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.
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PGD being performed on a 3-day old embryo
Image via http://www.obgyn.net/Frontiers_In_Reproductive_Medicine/images/PGD.gif
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Real Families impacted by PGD:
Molly and Adam Nash and the Hashmis
http://news.bbc.co.uk/olmedia/955000/images/_955928_nash150.jpg
http://www.telegraph.co.uk/news/graphics/2007/08/01/nivf101.jpg
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What % of IVF clinics provide testing for the following reasons?
aneuploidy
autosomal disorders
chromosomal rearrangement
X-linked diseases
non-medical sex selection
avoid adult-onset disease
HLA typing
HLA typing w/o single gene test
Select for a disability
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Public attitudes regarding acceptable uses of PGD:
fatal
HLA match adult onset
disease
sex
Intelligence/
strength
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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?
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DNA and Crime
Personal Genetics Education Project (pgEd)
Harvard Medical School
www.pged.org
“ A Not So Perfect Match”
The Darryl Hunt case on 60 Minutes
Journal Photo by David Sandler)
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What is a criminal DNA database?
• Database of genetic information that is maintained by
law enforcement agencies
• “Forensic Index”: DNA collected at a crime scene
• “Offender Index”: DNA collected from people who are
arrested or convicted.
Big Idea: Compare DNA from the forensic and offender
indexes to find matches.
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Who is in our various state and federal
DNA databases?
• There are 10 million+ people who are part of the
“offender index” in the Combined DNA Index System
( CODIS) in the US as of 9/2011.
• CODIS: FBI’s program for linking the federal, state
and local DNA profiles in a single database
• 395,000 samples in the “forensic index”
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What do you have to do to get into
a criminal database?
• Policies vary from state to state.
• In all 50 states: a felony conviction gets you
into the database.
• In some, but not, all states, you are added to CODIS if you
are:
1. Convicted of a misdemeanor
2. Arrested for a felony
3. Arrested for a misdemeanor
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How were the criminal databases
originally designed?
• FBI started collecting DNA for investigations in 1988.
• CODIS was developed by the FBI in 1994, authorized by
Congress, to connect various local and federal databanks. It was
launched in 1998.
• A committee of scientists “selected as the standard for DNA
profiling 13 short DNA segments or “short tandem repeats”
(STRs), which are regions of the genome that do not code for any
traits but that, viewed in combination, provide a pattern unique
to each individual.” www.dnapolicy.org
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What has changed in the last 13 years
since CODIS was established?
• The trend is towards expansion – states are widening the
criteria for entrance into their databases.
• CODIS is growing at a rate of 80,000 new additions annually.
• Scientific leaps are creating new opportunities and
challenges.
• Familial searching – also known as “partial match” searching
– has generated interest and controversy.
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What are the scientific controversies?
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New ways to use DNA to solve crimes
http://www.scientificamerican.com/article.cfm?id=portrait-in-dna
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Databases, plus testing or retesting
• 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
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DNA as identification tool:
beyond individual crimes:
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Familial Searching:
Discussion Questions
• In the clip, who was more persuasive – the Denver DA or
the attorney concerned about privacy rights? Why?
•Is the use of “familial searching” something lawmakers
should have imagined 13 year ago?
• The reporter says “ crime runs in families”. What is she
referring to? Why might that be the case?
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