Athletics and genetics Personal Genetics Education Project ( pgEd ) Harvard Medical School

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 sportspresents a number of personal and societal questions in need of attention.

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

5. Protecting Athletes: Hypertrophic Cardiomyopathy (HCM) Causes of sudden cardiac death in young athletes: • 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? HCM 36% Data from BJ Maron et al (2009)

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

7. Direct-to-consumer genetic testing for sports • 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.

8. Genes linked to athletic performance and injury risk • 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.

9. The ACTN3 gene and its link to speed 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.

10. The APOE gene and concussion recovery • 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?

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? Duluoz Cats, CC BY-NC-ND 2.0 Edwin Martinez, CC BY 2.0 “Born to win: top athletes don’t share a single talent gene, but hundreds of them” -- Headline from The Conversation, June 25, 2015

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. 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?

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).