Athletics and genetics Personal Genetics Education Project (pgEd)

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

2. 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?

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

4. 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.

5. 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? CARDIOMYOPATHY Source: American Heart Association SICKLE CELL TRAIT

7. Genes linked to athletic performance and injury risk • A common version of ACTN3, the so-called “speed” gene, has been linked to sprinting ability. Most elite sprinters have at least one copy of this version. • 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 link between variants in collagen-producing genes, including COL5A1 and COL5A2, and increased risk of Anterior Cruciate Ligament (ACL) tears.

8. Direct-to-consumer genetic testing for sports • Companies are currently selling tests that assess variants 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. For example, there is a well-established link between APOE4 and an increased risk for Alzheimer’s disease.

9. www.athleticode.com

10. Image via NYT/Chang W. Lee Ronald Martinez/Getty Images What leads to excellence in sports: Genes? Environment? Training? Drive? Image via nhl.com

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

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

13. 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.

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?