Introduction to Personal Genetics Personal Genetics Education Project (pgEd)

1. Introduction to Personal Genetics Personal Genetics Education Project (pgEd) Harvard Medical School - Wu Laboratory www.pged.org

2. Do Now Discuss with the following questions with the people at your desk group: • What are the potential benefits to knowing more about your genetic predisposition to (chance of developing) a disease? • What are the possible downsides to knowing? • Aside from health and medical information, what else might you be curious to learn about from your DNA?

3. Genetics is getting more personal • because learning about our own • DNA is rapidly becoming • inexpensive and accessible. • DNA analysis can provide: • Insights about our health, behavior, family history and other traits. • Highly personal information with personal, social and familial impact. • Information about genes and traits directly to consumers.

4. “Under $1,000 dollars in this decade” “Widely available in the next 5-10 years” “Transforming health care for the next generation” Why might personal genetics matter to you? Photo: http://www.flickr.com/photos/jameshart/3216713992/sizes/s/in/photostream/ Quote sources: New York Times

5. The Beery twins’ story highlights the promise of personalized medicine http://the-scientist.com/author/lucy-reading/ (2011)

6. Personal choices based on genetic information • Angelina Jolie reveals she chose to undergo a double mastectomy. • Jolie had a genetic test and found she carried a mutation in the BRCA1 gene. Doctors estimated there was a very high chance she would get breast cancer. Getty Images

7. Fetus and mother share a blood supply. • Fetal cells release DNA that enters the maternal bloodstream. • Maternal blood now contains a mixture of maternal cell-free DNA and fetal cell-free DNA. Non-Invasive Prenatal Testing (NIPT) http://www.monashultrasound.com.au/images/NIPT_clip_image003.jpg

8. “DNA tests locate genetic branches of African American’s family trees” http://www.post-gazette.com/stories/life/lifestyle/dna-tests-locate-genetic-branches-on-african-americans-family-trees-427734/ Photo credit: Steve Mellon

9. Genome sequencing technology Applied Biosystems 3730 DNA Analyzers 2002 Oxford Nanopore MinION 2014 http://www.flickr.com/photos/jurvetson/57080968/ https://www.nanoporetech.com

11. Direct-to-consumer analysis for sale on the internet

12. The “lighter side” of DNA analysis

13. Health-related risks sold directly to consumers: an evolving landscape

14. Challenges in personal genetics Clinical utility: How likely is it you or your doctor can take action based on genetic information? How much might this information impact you and your family? How can we ensure access for everyone?  Will people understand that our environment (health care, family, society, etc.) also shapes who we are?

15. Four Corners activity

16. People should get counseling from a doctor or genetic counselor when they get genetic testing because they will not be able to handle the information otherwise.

17. People should have the right to learn whatever they want about their DNA because it is their own body.

18. I would only want to find out my likelihood of developing a disease if there are ways to prevent or treat it.

19. Parents undergoing in vitro fertilization should have the option to screen embryos for mutations likely to cause a serious disease.

20. Parents should be able to choose a child’s traits, such as eye color and sex, for non-medical reasons.

21. Employers should use genetic information to make hiring or firing decisions about employees.

22. Parents should be able to find out whatever they would like about their children’s DNA before they turn 18.

23. I would want to know if someone I was dating had a strong genetic predisposition to a serious disease.

24. Genetics and reproduction Personal Genetics Education Project (pgEd) Harvard Medical School - Wu Laboratory www.pged.org

25. Discussion questions: • If you could choose specific traits or qualities that you would want your child to have, what would you choose? Why? • Are there traitsyou would not want your child to have? What are they? Why?

26. Genetic reproductive technologies can be used to: • Gain genetic information about an embryo or unborn fetus. • Help individuals conceive. • Allow individuals to select embryos based on their genetic makeup.

27. Prenatal testing Invasive testing: Amniocentesis and chorionic villus sampling

28. Non-invasive prenatal testing (NIPT) • Fetus and mother share a blood supply. • Fetal cells release DNA, which can then enter the maternal blood stream. • Maternal blood now contains a mixture of fetal cell-free DNA and maternal cell-free DNA. http://www.monashultrasound.com.au/images/NIPT_clip_image003.jpg

29. http://www.nature.com/news/researchers-turn-off-down-s-syndrome-genes-1.13406http://www.nature.com/news/researchers-turn-off-down-s-syndrome-genes-1.13406

30. What is in vitro fertilization (IVF)? • In vitro fertilization is a technique used to treat infertility. • A woman has eggs harvested from her ovaries, after taking hormones to stimulate egg production. The eggsare then combined with sperm in a petri dish. • After 3-5 days, the embryos are assessed, and a doctor/embryologist determines which embryos are of the highest quality. • One or more embryos are then placed in the woman’s uterus. The embryo(s) may or may not attach and lead to pregnancy.

31. Theembryo is created via in vitro fertilization. • Typically, a single cell is removed from the embryo at the • 8-cell stage (3 days after fertilization). • Genetic testing is performed. • The results of testing are used to decide which embryos, • if any, to implant in theprospective mother’s uterus. What is preimplantation genetic diagnosis (PGD)?

32. PGD: Pre-implantation Genetic Diagnosis Schwartz 2011 Jewish News

33. A Real Family impacted by PGD: Molly and Adam Nash Fanconi anemia (disorder of DNA repair) Cure: PGD, umbilical cord blood stem cells http://tvnoviny.sk/sekcia/spravy/zahranicne/vo-francuzsku-sa-narodilo-prve-dizajnerske-dieta.html

34. aneuploidy autosomal disorders chromosomal rearrangement X-linked diseases non-medical sex selection What % of IVF clinics provide testing for the following reasons? avoid adult-onset disease HLA typing HLA typing w/o single gene test Select for a disability http://www.dnapolicy.org/resources/GeneticTestingofEmbryos.pdf

35. Public attitudes regarding acceptable uses of PGD: Fatal HLA match Adult onset disease Sex Intelligence/ strength http://www.dnapolicy.org/resources/2006_Hudson_PGD_public_policy_and_public_attitudes.pdf

36. Opinion poll: What role, if any, should the government of the United States play in regulating PGD? Want a total ban on PGD Support no government regulation Think government should regulate ethics only Support government regulation of safety and quality Believe government should regulate safety, quality and ethics http://www.dnapolicy.org/resources/2006_Hudson_PGD_public_policy_and_public_attitudes.pdf

37. Discussion Questions • What are the potential opportunities that PGD can provide and what are the challenges of PGD? • Now that you have discussed PGD, have you changed your opinion about whether you would want to choose certain traits for your child? • If your parents had applied PGD to you, should they tell you? Or would you prefer not to know? • Do we need rules to guide how PGD is used? If yes, what sort of rules? Whose job would it be to make and enforce such rules?