Athletics and genetics Personal Genetics Education Project (pgEd) Harvard Medical School - Wu Laboratory www.pged.org 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? What can a genetic test for “sports ability” tell us? www.nytimes.com/2008/11/30/sports/30genetics.html 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. CARDIOMYOPATHY Source: American Heart Association 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? 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. 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. w Image via NYT/Chang W. Lee Ronald Martinez/Getty Images What leads to excellence in sports: Genes? Environment? Training? Drive? Image via nhl.com 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 Michael Phelps and Usain Bolt: What has led them to excel? Photo via www.michaelphelps.net Photo: Matt Dunham AP 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. 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?