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![Page 1: Personal genetics What might it mean for me, my family and society? NSTA-Atlanta, November 1, 2012 Personal Genetics Education Project (pgEd) Harvard Medical.](https://reader036.fdocuments.net/reader036/viewer/2022062717/56649e2e5503460f94b1dff4/html5/thumbnails/1.jpg)
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
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http://www.nature.com/news/rapid-test-pinpoints-newborns-genetic-diseases-in-days-1.11527
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Dana Waring, MA
Co-Founder and Director of Education
Personal Genetics Education Project (pgEd)
Harvard Medical School
www.pged.org
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pgEd’s goal:
To encourage thoughtful discussion about personal genetics
so people can make informed choices for themselves, their families, and
society.
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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!
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!
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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
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Todays agenda – Lesson plans highlights
Key scientific concepts
Genes and sports performance
DNA and crime
Reproductive technology
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personal genetics education project
Revealing our personal genomes
Our genomes are over 99% identical
Remaining <1% difference => GENETIC VARIATION
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personal genetics education project
Revealing our personal genomes
Our genomes are over 99% identical
Remaining <1% difference => GENETIC VARIATION
VARIANTS
MUTATIONS
Terminology: How do we talk about our genetic differences?
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personal genetics education project
Revealing our personal genomes
Our genomes are over 99% identical
Remaining <1% difference => GENETIC VARIATION
VARIANTS
MUTATIONS
Terminology: How do we talk about our genetic differences?
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personal genetics education project
Personal genome sequencing:Vision for personalized medicine
Diagnosis Disease riskTreatment
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http://www.nature.com/news/2011/110615/full/news.2011.368.html
personal genetics education project
A true story highlights the promise of personalized medicine
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personal genetics education project
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
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Big idea: Connecting genotype and phenotype
Genetics
You
personal genetics education project
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Big idea: Connecting genotype and phenotype
Genetics Environment
You
personal genetics education project
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personal genetics education projectPhoto: ReutersPhoto: Evan Hurd
Photo: Reuters
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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
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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?
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personal genetics education project
“ The first civil rights legislation of the 21st century”-Senator Ted Kennedy
Genetic Information Non-discrimination Act (GINA)
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personal genetics education project
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.
GINA: Prohibits genetic discrimination in health insurance and employment
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Genetics and sports:
How might personal genetics transform athletics?
Personal Genetics Education Project (pgEd)Harvard Medical School
www.pged.org
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What might a “sports gene test” tell us?
personal genetics education projectwww.nytimes.com/2008/11/30/sports/30genetics.html
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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)
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What leads to excellence in sports:Genes? Environment? Training? Drive?
Image via www.womanzworld.comImage via nhl.com
Image via NYT/Chang W. Lee
Ronald Martinez/Getty Images
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personal genetics education project
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: Matt Dunham AP
personal genetics education project
Photo via www.michaelphelps.net
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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.
personal genetics education project
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personal genetics education project
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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personal genetics education project
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
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personal genetics education project
What is preimplantation genetic diagnosis (PGD)?
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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personal genetics education project
PGD being performed on a 3-day old embryoPGD 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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personal genetics education project
Real Families impacted by PGD: Molly and Adam Nash and the Hashmis
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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personal genetics education project
What % of IVF clinics provide testing for the following reasons? 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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personal genetics education project
Public attitudes regarding acceptable uses of PGD: Public attitudes regarding acceptable uses of PGD:
fatal HLA match adult onset disease
sex Intelligence/strength
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Wants a total ban on PGD
Supports government regulation of safety and quality
Thinks government should regulate ethicsonly
Supports no government regulation
Believes government should regulate safety, quality and ethics
Opinion poll: What role, if any, should the US government play in regulating preimplantation
genetic diagnosis (PGD)?
Opinion poll: What role, if any, should the US government play in regulating preimplantation
genetic diagnosis (PGD)?
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personal genetics education project
Discussion Questions 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
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personal genetics education project
“ A Not So Perfect Match” The Darryl Hunt case on 60 Minutes
Journal Photo by David Sandler)
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personal genetics education project
• 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.
What is a criminal DNA database?
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personal genetics education project
• 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”
Who is in our various state and federal DNA databases?
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personal genetics education project
• 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 misdemeanor2. Arrested for a felony
3. Arrested for a misdemeanor
What do you have to do to get into a criminal database?
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personal genetics education project
• 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
How were the criminal databases originally designed?
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personal genetics education project
• 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.
What has changed in the last 13 years since CODIS was established?
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personal genetics education project
What are the scientific controversies?
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personal genetics education project
New ways to use DNA to solve crimes
http://www.scientificamerican.com/article.cfm?id=portrait-in-dna
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personal genetics education project
• The Innocence Project: Exonerated 274 people, 17 of these exonerations were death row inmates
• 70% of exonerations have been people from minority groups
Databases, plus testing or retesting
www.innocenceproject.org
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personal genetics education project
DNA as identification tool: beyond individual crimes:
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personal genetics education project
• 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?
Familial Searching: Discussion Questions