1. Athletics and genetics Personal Genetics Education Project (pgEd) Harvard Medical School www.pged.org 2016

2. Do Now Answer the following questions: 1. 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? 2. What could be a benefit and what could be a disadvantage to having genetic analysis of this sort performed at an early age?

3. 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.

4. Protecting Athletes: Sickle Cell Trait (SCT) “In N.C.A.A., Question of Bias Over a Test for a Genetic Trait” -- Headline from The New York Times, Apr 11, 2010 Healthy round red blood cells and a sickled cell Ereck PlancherDale Lloyd II Images: (left) Naples News, (center) Rice University, (right) Wellcome Images

5. How do we decide to screen for conditions that may put an athlete’s health or life at risk? How common or risky does a trait need to be before we screen everyone? Causes of sudden cardiac death in young athletes: HCM 36% Protecting Athletes: Hypertrophic Cardiomyopathy (HCM) Data from BJ Maron et al (2009)

6. What can a genetic test for “sports ability” tell us?

7. Companies are currently selling tests that to try to predict a person’s risk for sports injuries and athletic abilities. Target audiences are athletes of all ages, parents, coaches and trainers. There is controversy about how predictive these tests are and what else these tests may reveal about a person’s health. Direct-to-consumer genetic testing for sports

8. A common version of ACTN3, the so-called “speed” gene, has been linked to sprinting ability. Preliminary studies have linked a common version of the APOE gene, called APOE4, to increased risk of severe effects from a concussion. On-going research is exploring the link between versions of the collagen-producing genes, COL5A1 and COL5A2, and increased risk of Anterior Cruciate Ligament (ACL) tears. Genes linked to athletic performance and injury risk

9. The gene, ACTN3, produces a protein that helps fast-twitch muscle fibers to contract. There is a version of ACTN3 that has been linked to sprinting ability. ~95% of elite sprinters have at least one copy of this version of the gene. ~80% of people in the general population also have at least one copy of this version. The ACTN3 gene and its link to speed

10. Some companies test for “concussion complications risk” – looking at the E4 version of the APOE gene APOE4 is also linked to an increased risk of Alzheimer’s disease Should companies reveal this link to customers or is it a customer’s responsibility to research this link? The APOE gene and concussion recovery

11. Michael Phelps & Usain Bolt: Karen Blaha, CC BY-SA 2.0 What has led them to excel? PhotoBobil, CC BY 2.0

12. What leads to excellence in sports: Genes? Environment? Training? Drive? “Born to win: top athletes don’t share a single talent gene, but hundreds of them” -- Headline from The Conversation, June 25, 2015 Duluoz Cats, CC BY-NC-ND 2.0Edwin Martinez, CC BY 2.0

13. Why can US Olympian Jennie Finch strike out top Major League Baseball players with a much slower pitch than they typically hit? By Gary Leland, via Wikimedia Commons

14. 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? Discussion questions

15. Image credits Slide 4: (left) “Ereck Plancher.” Via the Naples News (http://www.naplesnews.com/community/family-of-ereck- plancher-to-file-wrongful-death-suit-against-ucf-ep-401384505-332397412.html, accessed Mar 1, 2016). Slide 4:(center) “Dale Lloyd,” Rice University (http://www.riceowls.com/sports/m- footbl/mtt/lloyd_dale00.html, accessed Mar 1, 2016). Slide 4:(right) “SEM sickled and other red blood cells,” EM Unit, UCL Medical School, Royal Free Campus, Wellcome Images, B0000521 (http://tinyurl.com/hmutpf3, accessed Mar 1, 2016). Available under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International license (https://creativecommons.org/licenses/by-nc-nd/4.0/). Slide 6: Personal Genetics Education Project (Patricia Hautea) Slide 7: Personal Genetics Education Project (Patricia Hautea) Slide 8: Personal Genetics Education Project (Patricia Hautea) Slide 10: Personal Genetics Education Project (Dana Waring) Slide 11: (top): “Michael Phelps in the 400m IM” by Karen Blaha (https://www.flickr.com/photos/vironevaeh/2272442948/, accessed Jan 26, 2016). Available under a Creative Commons Attribution-ShareAlike 2.0 Generic license (https://creativecommons.org/licenses/by-sa/2.0/). Slide 11:(bottom): “Bolt” by PhotoBobil (https://www.flickr.com/photos/15174316@N02/2818731283/, accessed Jan 26, 2016). Available under a Creative Commons Attribution 2.0 Generic license (https://creativecommons.org/licenses/by/2.0/). pgEd cropped this image. Slide 12:(left): “I got it” by Duluoz Cats (https://www.flickr.com/photos/duluoz_cats/382133495/, accessed Jan 26, 2016). Available under a Creative Commons Attribution-NonCommercial-NoDerivs 2.0 Generic license (https://creativecommons.org/licenses/by-nc-nd/2.0/).

16. Image credits Slide 12: (right) “US Open 2013 Part 2 668” by Edwin Martinez (https://www.flickr.com/photos/rhythmstrip/9630783949/, accessed Jan 26, 2016). Available under a Creative Commons Attribution 2.0 Generic license (https://creativecommons.org/licenses/by/2.0/). Slide 13: “Gary Leland Interviews Jennie Finch” by Gary Leland [Public domain], via Wikimedia Commons (https://commons.wikimedia.org/wiki/File:Gary_Leland_Interviews_Jennie_Finch.png, accessed Mar 3, 2016). References Slide 4:(headline) “In N.C.A.A., Question of Bias Over a Test for a Genetic Trait” by Katie Thomas and Brett Zarda, The New York Times, 2010 (http://www.nytimes.com/2010/04/12/sports/12sickle.html, accessed Jan 12, 2016). Slide 5:(data source) BJ Maron et al. 2009. Sudden Deaths in Young Competitive Athletes: Analysis of 1866 Deaths in the United States, 1980–2006. Circulation. 119: 1085-1092. doi: 10.1161/CIRCULATIONAHA.108.804617 (http://circ.ahajournals.org/content/119/8/1085.long, accessed Jan 26, 2016). Slide 12:(headline) “Born to win: top athletes don’t share a single talent gene, but hundreds of them” by Colin Moran, The Conversation, 2015 (https://theconversation.com/born-to-win-top-athletes-dont-share-a- single-talent-gene-but-hundreds-of-them-43816, accessed Jan 26, 2016).