1. Introduction to Personal Genetics Personal Genetics Education Project (pgEd) Harvard Medical School www.pged.org 2016

2. Do Now Discuss the following questions with the person (or people) next to you: 1.What are the potential benefits to knowing more about your likelihood of developing a genetic disease? 2.What are the possible downsides to knowing? 3.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 available to consumers through their doctor.

4. Genome analysis available for under $1,000 dollars Broadly available in the next 5-10 years Transforming medical care for the next generation Image: James Hart, CC BY-NC-ND 2.0 Why might personal genetics matter to you?

5. The Beery twins’ story highlights the promise of personalized medicine http://dystonia.thebeerys.com/

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. Image: Gage Skidmore, CC BY-SA 2.0

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)

8. http://www.post-gazette.com/lifestyle/2006/03/29/ DNA-tests-locate-genetic-branches-on-African-Americans-family-trees/stories/200603290216

9. Oxford Nanopore MinION 2014 Applied Biosystems 3730 DNA Analyzers 2002 Genome sequencing technology (left) Photo by Jurvetson, flickr, CC BY 2.0; (right) Oxford Nanopore Technologies

11. - Risk for conditions including: Alzheimer’s Disease Heart Disease Cancer - Carrier Status - Which medications could work best for you and/or which could harm you - Ancestry What could you learn from genetic testing?

12. The “lighter side” of DNA analysis Photic Sneeze Reflex Cheek dimples Finger Length Ratio

13. How does direct-to-consumer genetic testing work? 1. Order kit online. 2. Spit into tube and send to lab. 3. The lab analyzes DNA. 4. Customer receives results. Note: Some tests require a doctor’s approval. In this case, results are typically sent to both the customer and the doctor, so they may discuss.

14. 1.How likely is it you or your doctor can take action based on genetic information? 2.How might this information impact you and your family? 3.How can we ensure access for everyone? 4.Will people understand that our environment (health care, family, society, etc.) also shapes who we are? Challenges in personal genetics

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. Slide 4: “Kidzania – Doctor” by James Hart (https://www.flickr.com/photos/jameshart/3216713992/, accessed Jan 25, 2016). Available under a Creative Commons Attribution-NonCommercial-NoDerivs 2.0 Generic License (https://creativecommons.org/licenses/by-nc-nd/2.0/). Slide 5: Retty Beery, The Beerys Dystonia Support Site Web Site (http://dystonia.thebeerys.com/, accessed Jan 25, 2016). Slide 6:“Angelina Jolie” by Gage Skidmore (https://www.flickr.com/photos/gageskidmore/4860509634/, accessed Jan 25, 2016). Available under a Creative Commons Attribution-ShareAlike 2.0 Generic license (https://creativecommons.org/licenses/by-sa/2.0/). Slide 7: Personal Genetics Education Project (Patricia Hautea) Slide 8: Pittsburgh Post-Gazette (http://www.post-gazette.com/lifestyle/2006/03/29/DNA-tests-locate- genetic-branches-on-African-Americans-family-trees/stories/200603290216, accessed Jan 25, 2016). Slide 9:(left) “Riding Shotgun” by Steve Jurvetson (http://www.flickr.com/photos/jurvetson/57080968/, accessed Jan 25, 2016). Available under a Creative Commons Attribution 2.0 Generic license (https://creativecommons.org/licenses/by/2.0/). (right) Oxford Nanopore Technologies (https://nanoporetech.com/downloads/MinION-hand.jpg, accessed on Jan 25, 2016). Slide 10: National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH) (http://www.genome.gov/sequencingcosts/, accessed Jan 11, 2016). Slide 11:(left) Adapted from Madeleine Price Ball (https://commons.wikimedia.org/wiki/File:Silhouette_of_Woman_with_Short_Hair_and_Jeans.svg, accessed Feb 16, 2016). Slide 11 (right), Slide 12: Personal Genetics Education Project (Dana Waring) Image credits