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

Dana Waring, MA Co-Founder and Director of Education Personal Genetics Education Project (pgEd) Harvard Medical School

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!

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, : 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

personal genetics education project Revealing our personal genomes Our genomes are over 99% identical Remaining GENETIC VARIATION

personal genetics education project Revealing our personal genomes Our genomes are over 99% identical Remaining GENETIC VARIATION VARIANTS MUTATIONS Terminology: How do we talk about our genetic differences?

personal genetics education project Revealing our personal genomes Our genomes are over 99% identical Remaining GENETIC VARIATION VARIANTS MUTATIONS Terminology: How do we talk about our genetic differences?

personal genetics education project Personal genome sequencing: Vision for personalized medicine DiagnosisDisease riskTreatment

personal genetics education project A true story highlights the promise of personalized medicine

personal genetics education project One in a billion: Nic Volker

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Big idea: Connecting genotype and phenotype Genetics You personal genetics education project

Big idea: Connecting genotype and phenotype GeneticsEnvironment You personal genetics education project

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 “ The first civil rights legislation of the 21st century ” -Senator Ted Kennedy Genetic Information Non-discrimination Act (GINA)

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

Genetics and sports: How might personal genetics transform athletics? Personal Genetics Education Project (pgEd) Harvard Medical School

What might a “sports gene test” tell us? 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)

What leads to excellence in sports: Genes? Environment? Training? Drive? Image via Image via nhl.com Image via NYT/Chang W. Lee Ronald Martinez/Getty Images

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)

Michael Phelps and Usain Bolt: Do their genes make them different? Photo: Matt Dunham AP personal genetics education project Photo via

“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

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).

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?

Debating the ethical questions about genetics and reproduction Personal Genetics Education Project (pgEd) Harvard Medical School

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.

personal genetics education project PGD being performed on a 3-day old embryo Image via

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

personal genetics education project 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

personal genetics education project Public attitudes regarding acceptable uses of PGD: fatalHLA matchadult onset disease sexIntelligence/ strength

Wants a total ban on PGD Supports government regulation of safety and quality Thinks government should regulate ethics only 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)?

personal genetics education project 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 Personal Genetics Education Project (pgEd) Harvard Medical School

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 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?

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?

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 misdemeanor 2. Arrested for a felony 3. Arrested for a misdemeanor What do you have to do to get into a criminal database?

personal genetics education project FBI started collecting DNA for investigations in CODIS was developed by the FBI in 1994, authorized by Congress, to connect various local and federal databanks. It was launched in 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.” How were the criminal databases originally designed?

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?

personal genetics education project What are the scientific controversies?

personal genetics education project New ways to use DNA to solve crimes

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

personal genetics education project DNA as identification tool: beyond individual crimes:

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