Personal genetics What might it mean for me, my family and society? NSTA-Atlanta, November 1, 2012 Personal Genetics Education Project (pgEd) Harvard Medical

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.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!

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!

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

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





VARIANTS

MUTATIONS

Terminology: How do we talk about our genetic differences?





VARIANTS

MUTATIONS

Terminology: How do we talk about our genetic differences?


Personal genome sequencing:Vision for personalized medicine

Diagnosis Disease riskTreatment

http://www.nature.com/news/2011/110615/full/news.2011.368.html


A true story highlights the promise of personalized medicine


One in a billion: Nic Volker

http://www.jsonline.com/features/health/111224104.html

Direct to consumer (DTC) analysis for sale on the internet

Big idea: Connecting genotype and phenotype

Genetics

You


Big idea: Connecting genotype and phenotype

Genetics Environment

You


personal genetics education projectPhoto: ReutersPhoto: Evan Hurd

Photo: Reuters


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 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?


“ The first civil rights legislation of the 21st century”-Senator Ted Kennedy

Genetic Information Non-discrimination Act (GINA)


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

Genetics and sports:

How might personal genetics transform athletics?


www.pged.org


What might a “sports gene test” tell us?

personal genetics education projectwww.nytimes.com/2008/11/30/sports/30genetics.html

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)

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


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)

Michael Phelps and Usain Bolt:

Do their genes make

them different?

Photo: Matt Dunham AP


Photo via www.michaelphelps.net

“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.



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).


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?

Debating the ethical questions about genetics and reproduction


www.pged.org



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.


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


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

http://www.telegraph.co.uk/news/graphics/2007/08/01/nivf101.jpg

http://jsonline.com/features/health/105196904.html%23X_chromosome


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


Public attitudes regarding acceptable uses of PGD: Public attitudes regarding acceptable uses of PGD:

fatal HLA match adult onset disease

sex Intelligence/strength

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)?


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?

DNA and Crime


www.pged.org



“ A Not So Perfect Match” The Darryl Hunt case on 60 Minutes

Journal Photo by David Sandler)


• 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?


• 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?


• 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?


• 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?


• 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?


What are the scientific controversies?


New ways to use DNA to solve crimes

http://www.scientificamerican.com/article.cfm?id=portrait-in-dna


• 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


DNA as identification tool: beyond individual crimes:


• 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

Documents

Personal genetics What might it mean for me, my family and society? NSTA-Atlanta, November 1, 2012 Personal Genetics Education Project (pgEd) Harvard Medical