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Genetics and sports: How might personal genetics transform athletics Personal Genetics Education Project pgEd Harva

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Genetics and sports: How might personal genetics transform athletics Personal Genetics Education Project pgEd Harva

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    1. Genetics and sports: How might personal genetics transform athletics? Personal Genetics Education Project (pgEd) Harvard Medical School - Wu Lab www.pged.org dwaring@genetics.med.harvard.edu Complete lesson plan is at: www.pged.org/curricula Please use and modify these slides as needed. If you retain our text or images, please also leave the “ personal genetics education project” logo in the lower right hand corner. Thank you very much! If you have questions, please contact us at dwaring@genetics.med.harvard.edu”. Please use and modify these slides as needed. If you retain our text or images, please also leave the “ personal genetics education project” logo in the lower right hand corner. Thank you very much! If you have questions, please contact us at dwaring@genetics.med.harvard.edu”.

    2. What might a “ sports gene test” tell us? From the NYT. www.Atlasgene.com . Tests for fast or slow muscle twitch fibers - ACTN3 variant. Start with: Do you want to take this test? Do you wish your parents tested you as a 6 year old? Article here: http://www.nytimes.com/2008/11/30/sports/30genetics.htmlFrom the NYT. www.Atlasgene.com . Tests for fast or slow muscle twitch fibers - ACTN3 variant. Start with: Do you want to take this test? Do you wish your parents tested you as a 6 year old? Article here: http://www.nytimes.com/2008/11/30/sports/30genetics.html

    3. **Example of media coverage on these questions. Ditch text from Brandon but leave headline. Why are so many of the worlds most elite distance runners African? Kenya and Ethiopean in this case? Are they different in a biological way, or is it environment/tradition? Introduce idea of population genetics. Koerner article: http://www.slate.com/id/2090658/ Kenyan olympians photo: http://www.huaxlee.com/olympics/category/sports/page/605/ Population genetic theory here : http://sportsillustrated.cnn.com/vault/article/magazine/MAG1169440/1/index.htm http://www.pbs.org/newshour/rundown/2010/05/genetics-and-athletics-is-it-in-you.html http://www.spikesmag.com/features/whykenyanendurancerunnersruletheworld.aspx**Example of media coverage on these questions. Ditch text from Brandon but leave headline. Why are so many of the worlds most elite distance runners African? Kenya and Ethiopean in this case? Are they different in a biological way, or is it environment/tradition? Introduce idea of population genetics. Koerner article: http://www.slate.com/id/2090658/ Kenyan olympians photo: http://www.huaxlee.com/olympics/category/sports/page/605/ Population genetic theory here : http://sportsillustrated.cnn.com/vault/article/magazine/MAG1169440/1/index.htm http://www.pbs.org/newshour/rundown/2010/05/genetics-and-athletics-is-it-in-you.html http://www.spikesmag.com/features/whykenyanendurancerunnersruletheworld.aspx

    4. Sickle cell trait testing for college athletes - Why now? Genetic testing in sport. Is this the best way to save lives? Does it work? Introduce sickle cell controversy, latest development is that all NCAA Div I athletes are being testing for sickle cell trait as the result of a lawsuit brought by Dale Lloyd’s family after his death after falling ill during a rigorous training session. He did not know he was a carrier at the time. NYT article that summarized the issues: http://www.nytimes.com/2010/04/12/sports/12sickle.html?scp=1&sq=sickle%20cell%20ncaa&st=cse WaPo: http://www.washingtonpost.com/wp-dyn/content/article/2010/09/19/AR2010091904417.html?hpid=topnewsGenetic testing in sport. Is this the best way to save lives? Does it work? Introduce sickle cell controversy, latest development is that all NCAA Div I athletes are being testing for sickle cell trait as the result of a lawsuit brought by Dale Lloyd’s family after his death after falling ill during a rigorous training session. He did not know he was a carrier at the time. NYT article that summarized the issues: http://www.nytimes.com/2010/04/12/sports/12sickle.html?scp=1&sq=sickle%20cell%20ncaa&st=cse WaPo: http://www.washingtonpost.com/wp-dyn/content/article/2010/09/19/AR2010091904417.html?hpid=topnews

    5. personal genetics education project Today’s agenda:

    6. personal genetics education project Big Idea: Preventative (sports) medicine?

    7. www.athleticode.com New to market Focus on injury preventation and performance. Conducting research study on former NFL players and apoe4 mutations. Also offering testing related to soft-tissue SNPS that can possibly illustrate risk for injuries. Physical evalutation in addition to genetic information. www.athleticode.com New to market Focus on injury preventation and performance. Conducting research study on former NFL players and apoe4 mutations. Also offering testing related to soft-tissue SNPS that can possibly illustrate risk for injuries. Physical evalutation in addition to genetic information.

    8. Athleticode.com Offering DTC genetic testing in conjunction with physical evaluations Emphasis on prevention of injuries Aims to use genetic information to maximize performance Partnering with former NFL players for a research study on concussions and genetics

    9. Athleticode.com Genes related to “ soft tissue” injuries: torn ACL, Achilles injuries COL1A5, COL 1A1, MMP3 Genes + Physical traits, including training program, personal history Target audiences are athletes, parents, coaches and trainers

    10. Genetics and concussions: A new area of inquiry NFL players in pilot study Small study indicated a possible link between having the variant of ApoE4 and increased risk severe concussion ramifications What do the ApoE genes do? Clin J Sport Med ?? Volume 18, Number 1, January 2008. APOE, APOE Promoter, and Tau Genotypes and Risk for Concussion in College Athletes Thomas Roland Terrell, MD, MPhil,* Roberd M. Bostick, MD, MPH,† Ruth Abramson, PhD,‡ Dawen Xie, MD, PhD,§ William Barfield, PhD,ś Robert Cantu, MD,k Michele Stanek, MSH,** and Trina Ewing, MS**Clin J Sport Med ?? Volume 18, Number 1, January 2008. APOE, APOE Promoter, and Tau Genotypes and Risk for Concussion in College Athletes Thomas Roland Terrell, MD, MPhil,* Roberd M. Bostick, MD, MPH,† Ruth Abramson, PhD,‡ Dawen Xie, MD, PhD,§ William Barfield, PhD,ś Robert Cantu, MD,k Michele Stanek, MSH,** and Trina Ewing, MS**

    11. ApoE4 and Alzheimer’s Disease (AD) 3x the average elevated risk of AD you have one copy, 15X the average with two copies of ApoE4 variant Inheritance pattern: Can be sporadic or autosomal dominant Not fully penetrant “ Why would I want to know that?”: Clinical utility vs. “personal” utility Blennow K, de Leon MJ, Zetterberg H (July 2006). "Alzheimer's disease". Lancet 368 (9533): 387–403. doi:10.1016/S0140-6736(06)69113-7. PMID 16876668Blennow K, de Leon MJ, Zetterberg H (July 2006). "Alzheimer's disease". Lancet 368 (9533): 387–403. doi:10.1016/S0140-6736(06)69113-7. PMID 16876668

    12. Apoe4 and concussion risks? How does one weigh the benefits against the risks? Would you want to test your child to help decide which sports to possibly avoid or to pursue? Is this a family decision? Why or why not?

    13. Apoe4 and concussion risks: Stakeholders Athletes Parents Coaches Recruiters Trainers Admissions officers Scholarship committees NCAA and professional sports governing bodies Insurers (health, life, long term disability)

    14. Sickle cell trait testing for college athletes - Why now? Genetic testing in sport. Is this the best way to save lives? Does it work? Introduce sickle cell controversy, latest development is that all NCAA Div I athletes are being testing for sickle cell trait as the result of a lawsuit brought by Dale Lloyd’s family after his death after falling ill during a rigorous training session. He did not know he was a carrier at the time. NYT article that summarized the issues: http://www.nytimes.com/2010/04/12/sports/12sickle.html?scp=1&sq=sickle%20cell%20ncaa&st=cse WaPo: http://www.washingtonpost.com/wp-dyn/content/article/2010/09/19/AR2010091904417.html?hpid=topnewsGenetic testing in sport. Is this the best way to save lives? Does it work? Introduce sickle cell controversy, latest development is that all NCAA Div I athletes are being testing for sickle cell trait as the result of a lawsuit brought by Dale Lloyd’s family after his death after falling ill during a rigorous training session. He did not know he was a carrier at the time. NYT article that summarized the issues: http://www.nytimes.com/2010/04/12/sports/12sickle.html?scp=1&sq=sickle%20cell%20ncaa&st=cse WaPo: http://www.washingtonpost.com/wp-dyn/content/article/2010/09/19/AR2010091904417.html?hpid=topnews

    15. Sickle cell trait What is it? Sickle cell carrier vs. sickle cell disease (Heterozygous vs. homozygous) 2 million carriers in the United States: 8% African American .2% Whites .5 % Hispanic/Latino/a Prevalence in certain populations (why?) Photo: Pearson Education Why? Sickle cell trait protective against malaria http://sickle.bwh.harvard.edu/malaria_sickle.html Also: “Dr Williams said: "It has been known for some time that sickle cell trait offers this protection, but the accelerated level of immunity in the first years of life has not been revealed before. "There are several possible reasons why this happens and further research will be required before we find the full answer. "But one explanation may be that HbAS causes the malaria infection to stay in the body a long time, so allowing the immune system time to build up a proper defence. “ http://malaria.wellcome.ac.uk/doc_WTD023878.htmlPhoto: Pearson Education Why? Sickle cell trait protective against malaria http://sickle.bwh.harvard.edu/malaria_sickle.html Also: “Dr Williams said: "It has been known for some time that sickle cell trait offers this protection, but the accelerated level of immunity in the first years of life has not been revealed before. "There are several possible reasons why this happens and further research will be required before we find the full answer. "But one explanation may be that HbAS causes the malaria infection to stay in the body a long time, so allowing the immune system time to build up a proper defence. “ http://malaria.wellcome.ac.uk/doc_WTD023878.html

    16. 2010: NCAA requiring all Division I athletes to be tested Resulting from a lawsuit against the NCAA and Rice University, brought by Dale Lloyd’s parents “ Mandatory”, with option to “opt out” if you have been tested or by signing a waiver Screening program not supported by The Sickle Cell Association Controversies: race, historical failures, lack of data More to come? http://www.nytimes.com/2010/04/14/sports/14sickle.html “It is unclear whether screening all athletes would prevent deaths. Of the eight football deaths linked to sickle-cell trait in the past decade, four occurred after a university knew that the player had the disorder, said Anderson, who keeps the statistics.” http://www.nytimes.com/2010/04/12/sports/12sickle.htmlhttp://www.nytimes.com/2010/04/14/sports/14sickle.html “It is unclear whether screening all athletes would prevent deaths. Of the eight football deaths linked to sickle-cell trait in the past decade, four occurred after a university knew that the player had the disorder, said Anderson, who keeps the statistics.” http://www.nytimes.com/2010/04/12/sports/12sickle.html

    17. Sickle Cell Trait screening in the past: U.S. Armed Forces 1969 - Begins universal screening in response to soldier deaths 1970s - Restricts of duties for people with sickle cell trait: flying, high-altitude work, diving 1985 - Screening program ends 1996 - Declined to reinstate screening after policy review http://www.tricare.mil/policy/fy97/sckl9718.htmlhttp://www.tricare.mil/policy/fy97/sckl9718.html

    18. personal genetics education project https://health.google.com/health/ref/Hypertrophic+cardiomyopathy Reggie Lewis: http://www.hopkinsmedicine.org/news/media/releases/Sudden_Death_of_Baltimore_Basketball_Player_Reggie_Lewis_Spurs_Coach_to_Screen_Other_Young_Players_For_Heart_Defects Eddy Curry: http://thepersonalgenome.com/2005/10/eddy_curry_and_/https://health.google.com/health/ref/Hypertrophic+cardiomyopathy Reggie Lewis: http://www.hopkinsmedicine.org/news/media/releases/Sudden_Death_of_Baltimore_Basketball_Player_Reggie_Lewis_Spurs_Coach_to_Screen_Other_Young_Players_For_Heart_Defects Eddy Curry: http://thepersonalgenome.com/2005/10/eddy_curry_and_/

    19. Hypertrophic cardiomyopathy (HCM) Prevalance: 1:500 births Autosomal dominant Thickening of heart muscle 200,000 deaths annually (majority of deaths are people under age 30) Do screening programs prevent sudden deaths? http://www.nlm.nih.gov/medlineplus/ency/article/000192.htmhttp://www.nlm.nih.gov/medlineplus/ency/article/000192.htm

    20. New England J of Medicine: “ Screening of young athletes for HCM” Corrado et al 1998 “ None of the athletes who were disqualified from participation in sports because of hypertrophic cardiomyopathy died during the follow-up. This finding further supports the conclusion that systematic preparticipation screening might reduce mortality through the detection of hypertrophic cardiomyopathy in athletes and their disqualification from competitive sports. “ Does screening help? Study in Italy indicates yes: http://www.nejm.org/doi/full/10.1056/NEJM199808063390602 Participation in very active sports, governing bodies say no: http://journals.lww.com/acsm-csmr/Abstract/2002/04000/Hypertrophic_Cardiomyopathy__Who_Plays_and_Who.6.aspx Does screening help? Study in Italy indicates yes: http://www.nejm.org/doi/full/10.1056/NEJM199808063390602 Participation in very active sports, governing bodies say no: http://journals.lww.com/acsm-csmr/Abstract/2002/04000/Hypertrophic_Cardiomyopathy__Who_Plays_and_Who.6.aspx

    21. Lance Armstrong and Usain Bolt: Do their genes make them different ? Image from: http://www.prosportswrap.com/lance-armstrong-will-race-in-2009-tour-de-france/Image from: http://www.prosportswrap.com/lance-armstrong-will-race-in-2009-tour-de-france/

    22. “ Speed gene”: ACTN3 ACTN3 produced a protein - a actinen 3 - that helps contractions happen in fast-switch muscle fibers 70% of Jamaicans are heterozygous 28% of Jamaicans are homozygous Very rare for an elite sprinter to have not have at least one working version of this variant 82% of Europeans have at least one copy! Big idea: Population genetics and human genetic variation

    23. personal genetics education project First comprehensive federal legislation specifically protecting genetic information - state laws will still stand if they are more comprehensive www.dnapolicy.org/gina First comprehensive federal legislation specifically protecting genetic information - state laws will still stand if they are more comprehensive www.dnapolicy.org/gina

    24. personal genetics education project Enforced through EEOC, DOJ, other. Amends 4 existing federal laws. ADA, HIPAA, IRS, ERISA Details on GINA here: http://www.dnapolicy.org/gina/ Note - its important to point out that while GINA is a huge milestone, it does not prohibit genetic discrimination in the purchasing of other forms of insurance, including life and long term disability insurance ( both can very important to have if you are suffering from a serious disease). Enforced through EEOC, DOJ, other. Amends 4 existing federal laws. ADA, HIPAA, IRS, ERISA Details on GINA here: http://www.dnapolicy.org/gina/ Note - its important to point out that while GINA is a huge milestone, it does not prohibit genetic discrimination in the purchasing of other forms of insurance, including life and long term disability insurance ( both can very important to have if you are suffering from a serious disease).

    25. http://www.nytimes.com/2009/07/22/sports/baseball/22dna.html?_r=1&emc=eta1 According to MLB ( personal communication, Dana Waring and MLB, April 2010), this was not ever an official policy and not something they plan to do again in the future. http://www.nytimes.com/2009/07/22/sports/baseball/22dna.html?_r=1&emc=eta1 According to MLB ( personal communication, Dana Waring and MLB, April 2010), this was not ever an official policy and not something they plan to do again in the future.

    26. http://www.nytimes.com/2009/07/22/sports/baseball/22dna.html?_r=1&emc=eta1 According to MLB ( personal communication, Dana Waring and MLB, April 2010), this was not ever an official policy and not something they plan to do again in the future. http://www.nytimes.com/2009/07/22/sports/baseball/22dna.html?_r=1&emc=eta1 According to MLB ( personal communication, Dana Waring and MLB, April 2010), this was not ever an official policy and not something they plan to do again in the future.

    27. GINA, continued: Part of the definition of a “ genetic test” : (vii) DNA testing to detect genetic markers that are associated with information about ancestry; and (viii) DNA testing that reveals family relationships, such as paternity.

    28. Are all forms of performance enhancement equal? Ancient Greece - teas, drinks, potions Steroids Blood doping Gene doping Tommy John surgery (“elective”, pre-injury) Lasik eye surgery Can information confer an unfair advantage? Selection of traits at the genetic level? Science fiction or something to think about? More on Lasik for athletes: http://www.slate.com/id/2116858/ Tommy John/UCL surgery: http://www.usatoday.com/sports/baseball/2003-07-28-cover-tommy-john_x.htmMore on Lasik for athletes: http://www.slate.com/id/2116858/ Tommy John/UCL surgery: http://www.usatoday.com/sports/baseball/2003-07-28-cover-tommy-john_x.htm

    29. personal genetics education project What is preimplantation genetic diagnosis (PGD)?

    30. personal genetics education project PGD being performed on a 3-day old embryo

    31. personal genetics education project Families impacted by PGD: Molly and Adam Nash and the Hashmis First picture is Molly and Adam Nash. Adam was conceived via PGD with HLA typing to be a perfect immunological match for his ill older sister. They live in the US and were able to receive this treatment without government approval. Since the transplant, Molly has recovered and both children are doing well. 2010 story on the Nashes: http://www.usatoday.com/tech/science/columnist/vergano/2010-01-10-embryo-genetic-screening_N.htm The Hashmi family live in the UK where PGD is highly regulated. This is in stark contrast to the US, where there is no federal oversight. The UK has a government body (HFEA) that oversees and must approve any usage of PGD - in part because the UK has a federal health care system. Zain is still waiting for a sibling to act as a donor - the Hashmi family saw their case languish for years during a prolonged series of hearings and injunctions. They have won approval, but Mrs. Hashmi has yet to conceive. One of the major differences in the UK is that the procedure, if allowed, is paid for by their national health care system. First picture is Molly and Adam Nash. Adam was conceived via PGD with HLA typing to be a perfect immunological match for his ill older sister. They live in the US and were able to receive this treatment without government approval. Since the transplant, Molly has recovered and both children are doing well. 2010 story on the Nashes: http://www.usatoday.com/tech/science/columnist/vergano/2010-01-10-embryo-genetic-screening_N.htm The Hashmi family live in the UK where PGD is highly regulated. This is in stark contrast to the US, where there is no federal oversight. The UK has a government body (HFEA) that oversees and must approve any usage of PGD - in part because the UK has a federal health care system. Zain is still waiting for a sibling to act as a donor - the Hashmi family saw their case languish for years during a prolonged series of hearings and injunctions. They have won approval, but Mrs. Hashmi has yet to conceive. One of the major differences in the UK is that the procedure, if allowed, is paid for by their national health care system.

    32. personal genetics education project What are the most common uses of PGD? The 3% of people who selected for a disability typically chosen an inherited form of deafness or dwarfism. The 3% of people who selected for a disability typically chosen an inherited form of deafness or dwarfism.

    33. Public opinion on uses of PGD Fertility and Sterility, Volume 85, Issue 6, June 2006, Pages 1638-1645 K. Hudson

    34. personal genetics education project www.pged.org Jack Bateman, Department of Biology, Bowdoin College Marnie Gelbart, Genetics Department Harvard Medical School Lauren Tomaselli, Genetics Department Harvard Medical School Dana Waring, Genetics Department, Harvard Medical School Ting Wu, Genetics Department, Harvard Medical School

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