1. Genetics gets personal: Ethical and scientific issues in personal genomics Brunswick High School Feb 3, 2010 Personal Genetics Education Project (pgEd) www.pged.org Dana Waring dwaring@genetics.med.harvard.edu

2. Founded in 2006 at Harvard Medical School Responding to technological advances in genetics Emphasis on exploring risks and benefits of personal genomics Careers in science: Research, medicine, law, policy, philosophy, psychology, ethics, genetic counseling, education

3. personal genetics education project Today’s agenda: Discuss recent developments from the social, legal and ethical fronts of genetics Explore some of the likely risks and benefits of knowing more about your DNA. Highlight the personal and professional ways your life may intersect with personal genetics Big question: How do we use information?

4. 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

5. personal genetics education project Careers with big potential: sciences & health PhD programs in the sciences: FREE tuition & stipend Sources: US Department of Labor: http://stats.bls.gov/emp/ep_table_103.htm

6. 19th century20th century 21st century (Flemming, 1882) Where is genetics headed?

7. personal genetics education project What do we know about Huntington’s Disease? Devastating degenerative neurological disease without a cure or successful treatment. The Huntingtin gene, and the ability to test for the mutation, was discovered in 1993. The Huntingtin gene codes for a protein involved in neuron development and function Dominant and fully penetrant

8. personal genetics education project What do we know about BRCA1, BRCA2, and breast and ovarian cancer? BRCA1 & BRCA2 function as tumor suppressors, repairing damaged DNA BRCA 1 & BRCA2 were discovered in 1994 and 1995, respectively 12 out of 100 women will get breast cancer. Those with BRCA mutations have a risk of 60 out of 100. Known genetic causes account for 5-10% of all breast cancers in the US Extensive treatment options with good success rates

9. personal genetics education project Genome sequencing: Past, Present, Future Human Genome Project: 13 years, $2.7 billion Nobel Laureate James Watson: 2 years, $2 million Personal genomics companies 23andMe, Navigenics: A “genome scan” (SNP analysis, $400-$1,000, results in a few weeks via the web) Knome, full sequencing: initially $350,000 in 2007, now $25,000 for an “ exome” sequence and analysis Complete Genomics: $1500 for a full sequence in 2010

10. personal genetics education project What’s a personal genome? Goal: 1-5 years, under $1000 A Human Genome Project performed specifically on you (and thousands of others)

11. personal genetics education project Why do people traditionally get genetic testing? Predictive testing: Am I at risk for a genetic disease? Carrier testing: Might I pass on a genetic mutation to a potential child? Prenatal testing: What can I learn about the genetic profile of my fetus? Diagnostic testing: Does my disease have a genetic basis?

12. personal genetics education project Why personal genome sequencing? Might reveal details of myself, my family tree and genealogy Ideas for more tests and interventions if I learn I’m at risk for certain diseases or conditions To find the right drugs, in the right doses, for me specifically Motivation to my change habits I am an early adopter and want to help advance medical science To inform my reproductive decisions

13. personal genetics education project Photo: Reuters Photo: Evan Hurd Photo: Reuters

14. personal genetics education project Personal genomes: what are the challenges? How will knowing more about your DNA impact you and your family? How much should you fear discrimination socially or in your job? Will fair weight given to environmental & social factors when trying to figure out why we are the way we are? How can we ensure access for all who want to be sequenced? How realistic are promises of privacy?

15. personal genetics education project Surprise! Learning more than you bargained for Ancestry and genealogy Health information that ranges from very serious to very ambiguous Psychological impact Finding donor parents Partial matches in criminal DNA databanks used to find first-degree relatives

16. personal genetics education project Legal issues - Privacy and discrimination Your doctor Your spouse Your employer Your health insurer Law enforcement Researchers studying genetics

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

18. 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

19. personal genetics education project Psychological impact: What do we know? “ Disclosure of APOE Genotype for Risk of Alzheimer’s Disease” RC Green et al, NEJM, v 361: 245-254, 2009 “Genetic susceptibility testing for Alzheimer’s disease and its impact on insurance behavior” Zick et al, Health Affairs 24(2):483-490, 2005 No long term negative psychological impact of disclosure People act on information not considered clinically “actionable”

20. Citizen Science www.mydaughtersdna.org personal genetics education project

21. Members of the open Facebook group “ BRCA 1 or 2 Genetic Ovarian and Breast Cancer Gene” (**509 members 5/19/2009, 552 members on 7/7/2009, 605 members on 1/31/10) personal genetics education project

24. Genetics in the news: Impacting all parts of society

25. personal genetics education project Final thoughts: Will inexpensive and widespread sequencing change our ideas on privacy? Good for cops, bad for NIH ScienceNOW, Couzin, August 2008 “ The gravest worry was that an individual who had someone's genetic code could determine, based on the pooled data, whether the person participated in a disease study and whether they were in the disease group, or thereby glean private health information”

26. personal genetics education project www.pged.org Jack Bateman, Department of Biology, Bowdoin College James Morris, Department of Biology, Brandeis University Dana Waring, Genetics Department, Harvard Medical School Ting Wu, Genetics Department, Harvard Medical School personal genetics education project