1. Informed consent, genetic complexity & citizen science Dana Waring Cornerstones of Science Library Partner Summit - December 12, 2014 dwaring@geneticsmed.harvard.edu @pgEdorg @dwaringbateman www.pged.org dwaring@geneticsmed.harvard.edu

2. Today’s agenda Can we use best selling books to engage, educate and excite people about genetics? Practical, relevant, without jargon & clear connection back to a person’s life, family or experiences in society The Immortal Life of Henrietta Lacks and The Sports Gene as a way to tackle informed consent and genetic complexity. The Patient Will See You Now, out in January 2015

3. The Immortal Life of Henrietta Lacks

4. http://www.radiolab.org/story/91716-henriettas-tumor/

5. 2014: 228,000 genomes at $1000 a piece http://www.technologyreview.com/news/531091/emtech-illumina-says-228000-human-genomes-will-be-sequenced-this-year/ 2006: 1 genome for $5,000,000

6. Building the databases between traits (including disease) and our genes

7. How do scientists use cell lines in 2014? https://catalog.coriell.org/0/Sections/BrowseCatalog/Diseases.aspx?PgId=3

9. http://www.nature.com/news/hela-publication-brews-bioethical-storm-1.12689

10. Do scientists still use HeLa cells? 55,000+ publications since Immortal Life of Henrietta Lacks was published!

11. http://www.usatoday.com/story/tech/sciencefair/2013/08/07/henrietta-lacks-nih/2627923/ The Lacks family gets a say with the National Institutes of Health via a “data use committee”

12. Informed consent: Do you want to know about: Genetic markers that are strongly linked to conditions that benefit from early treatments, treatments with a possibility of success? Genetic markers associated with adult onset diseases, for which successful treatments exist? Genetic markers associated with adult onset disease, but lack established successful treatments and interventions? Genetic markers that *might* be linked to disease but are not well understood?

13. http://rebeccaskloot.com/wp-content/uploads/2011/08/HELA-hist-marker-3.jpg The Lacks family: pioneers in consent, privacy and research ethics

14. The Sports Gene

15. David Epstein’s TED Talk http://www.ted.com/talks/david_epstein_are_athletes_really_getting_faster_better_stronger?language=en

16. http://www.washingtonpost.com/news/morning-mix/wp/2014/07/02/how-tourettes-afflicted-tim-howard-went-from -international-ridicule-to-world-cup-history/

18. http://www.telegraph.co.uk/sport/othersports/athletics/11126511/Dennis-Kimetto-sets-new-world-record-at-Berlin-Marathon.html

19. 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 might have a special gift for music? Why or why not? What could be a benefit and what could be a disadvantage to having genetic analysis of this sort performed at an early age?

20. www.nytimes.com/2008/11/30/sports/30genetics.html What can a genetic test for “sports ability” tell us?

21. How do genetic testing and athletics intersect? Genetic testing is being used to predict injury risk and to detect medical conditions with the aim of preventing harm to athletes Companies offer testing to help parents and children use genetics as part of the puzzle in deciding what sport to pursue. The role of genetic testing in sports presents a number of personal and societal questions in need of attention.

22. CARDIOMYOPATHY SICKLE CELL TRAIT How do we decide to screen for conditions that may put an athlete’s health at risk? How common or risky does a trait need to be before we screen everyone? Source: American Heart Association

23. http://azstarnet.com/gallery/sports/college/wildcats/photos-softball-pitcher-jennie-finch/collection Why can US Olympian Jennie Finch strike out top Major League Baseball players with a much slower pitch than they typically hit?

24. Photo: Matt Dunham AP Photo via www.michaelphelps.net Michael Phelps and Usain Bolt: What has led them to excel?

25. Discussion questions: How effective might genetic analysis be in predicting athletic performance? Should genetic analysis be used to screen athletes for health conditions? Why or why not? From a scientific perspective, what are the most important facts when examining the link between athletic performance and genetics? What should a family consider when a child is thinking about playing a contact sport? How can genetic information both illuminate and complicate how parents decide what is right for their children?

26. http://esl-bits.net/listening/Media/2013-07-24/A.Fathers.Hunt/ Citizen scientists Partners in health