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    Preventing the Unknown: Genetic Testing with Dr. Stuart Kim

    en-usMarch 31, 2023

    Podcast Summary

    • Genetics in Sports: Predicting Injuries and Enhancing PerformanceGenetics is revolutionizing sports by predicting injuries and enhancing performance through tailored exercise programs, but ethical considerations arise when using genetic information for selection or exclusion based on potential vulnerabilities.

      Genetics is becoming an essential aspect of sports, with the potential to predict vulnerabilities to injuries and illnesses, as well as enhance athletic performance through tailored exercise programs. This is often referred to as the new "Moneyball" in sports. However, ethical considerations arise when it comes to using genetic information for selection or exclusion based on potential injuries or predispositions. Dr. Stuart Kim, a leading expert in the genetics of musculoskeletal injuries, emphasizes that athletes serve as excellent model organisms for genetic research due to the vast amount of data available on their physical attributes and medical histories. This data can provide valuable insights into the genetic causes of athletic performance and injuries. While the use of genetics in sports holds great promise, it also raises important ethical questions that must be addressed.

    • Revolution in Genetics: From Mendelian to Complex GeneticsThe revolution in genetics since 2016, driven by large databases and complex genetics understanding, has led to more accurate trait predictions and opened up new possibilities for disease prevention and personalized healthcare.

      The field of genetics and disease prevention has seen significant advancements since 2015, particularly in the area of complex genetics. Before this period, genetics was primarily focused on Mendelian genetics, which explains only a small fraction of genetic traits. However, with the advent of large databases like the UK Biobank, scientists were able to access and analyze vast amounts of data, leading to more significant findings from 2016 onwards. The revolution in genetics in 2018 introduced the concept of complex genetics, which recognizes that many traits are influenced by a multitude of genetic and environmental factors. This new understanding has led to more accurate predictions of traits like height, and opens up new possibilities for disease prevention and personalized healthcare. However, it also requires vast amounts of data to effectively analyze and contain multiple variables.

    • From individual genes to polygenic risk scoresAdvancements in genetic screening now focus on multiple genes through polygenic risk scores, providing a more accurate and comprehensive understanding of an individual's genetic predispositions. AI and machine learning algorithms help analyze vast genetic data for significant markers.

      Advancements in genetic screening have evolved significantly, moving from focusing on individual candidate genes to considering multiple genes through polygenic risk scores. While candidate gene studies, like the one focusing on actinin 3, have a small impact, polygenic risk scores, which consider the collective effect of multiple genes, provide a more accurate and comprehensive understanding of an individual's genetic predispositions. For instance, in the context of sports, while a single gene like actinin 3 may only account for a tiny fraction of an athlete's strength, a polygenic risk score that considers the combined effect of multiple genes can provide a more accurate prediction. Additionally, the use of AI and machine learning algorithms in analyzing vast amounts of genetic data is becoming increasingly important in identifying significant markers for various conditions, including injury risk. However, it's important to note that while these advancements offer promising possibilities, the collection of large, diverse datasets is crucial for accurate and reliable results. The field of genetics is rapidly evolving, and it's likely that we'll continue to see significant progress in our ability to use genetic information to inform individual health and performance.

    • Identifying hidden injury risks through data analysisAnalyzing large datasets and hidden factors can provide valuable insights into preventing athletic injuries.

      Researching and analyzing large datasets can provide valuable insights into injury risks for athletes, even if the differences are subtle. For instance, the UK Biobank study identified two genes that may increase the risk of ACL injuries. While creating a dataset from observing similar circumstances where an ACL injury did not occur can also yield useful best practices. FIFA 11 plus, a well-known training regimen, is an example of this approach. Additionally, an athlete's technique, although appearing perfect with the naked eye, may hide issues that can only be detected with advanced technology. These hidden issues can lead to compound problems and require more comprehensive solutions. An anecdotal example given was the potential link between root canals on the front left tooth and ACL injuries in three generations of a family. Overall, understanding the importance of data analysis and the potential hidden factors can significantly benefit athletes in preventing injuries.

    • Genetics can provide insights for injury prevention and training optimizationGenetics can help identify areas of improvement and reduce injury risk, but an athlete's performance is mainly determined by dedication and training.

      Genetics can provide valuable information for athletes to avoid injuries and optimize their training, but it may not significantly enhance their performance beyond their current capabilities. An example of this is the Finnish cross-country skier, Nero Mantiranka, who had a natural mutation that activated an EPO receptor, making him produce an unusually high number of red blood cells and giving him an advantage in endurance sports. However, this does not make him a "genetic cheat," as he was not artificially enhancing his performance but rather using his natural abilities to their fullest potential. Genetics can help identify areas of improvement and reduce the risk of injuries, but ultimately, an athlete's performance is largely determined by their dedication and training.

    • Genetics and the Complexity of a Level Playing Field in SportsGenetics play a role in athletic performance, but the concept of a level playing field is complex and may not be achievable due to inherent genetic differences and engineered advantages.

      The concept of a level playing field in sports becomes increasingly complex when considering the role of genetics. While some genetic advantages may be naturally occurring, others could be engineered. The future of sports may lean towards celebrating genetic anomalies over hard work and dedication, leading to a "genetic freak Olympics." However, it's essential to remember that athletic performance is a combination of nature and nurture, and genetic differences are just one aspect of the equation. Additionally, geneticists acknowledge that people are not created equal, and certain ethnicities may have inherent advantages in specific sports. Ultimately, the goal of anti-doping laws is to ensure a relatively level playing field, but complete equality may never be achievable.

    • Personal choices and determination matter in achieving success despite geneticsGenetics are only a part of the equation for success. Personal motivation, ambition, and determination are crucial factors in overcoming obstacles and reaching goals, even if one's genetic makeup doesn't fit typical expectations.

      While genetics play a role in determining physical abilities, personal choices and mental determination are crucial factors in achieving success. The speaker shares his experience of encountering an unexpected elite soccer player who didn't fit the typical body shape but had exceptional technique. He questions the value of geneticists' advice when individuals may not be motivated to follow it. Personal ambition and choice are emphasized as essential elements in overcoming obstacles and reaching goals. The speaker shares an inspiring story of his father, who was told he wouldn't excel at running based on his body type but defied expectations and became world-class. In today's data-driven society, individuals seek information to understand their unique traits and optimize their potential. Genetics should not limit one's beliefs about what they can achieve. Instead, it's essential to embrace personal motivation and determination to overcome challenges and reach goals.

    • Using genetics to understand human differencesGenetics can provide insights into why people differ, but should not be used to discriminate or limit opportunities. It can benefit athletes to optimize training and extend careers, and the general population to prevent/manage age-related diseases.

      While using genetics to understand why people are different can provide valuable insights, it's important to avoid using this information to discriminate against individuals or determine their worth or opportunities. Elite athletes, who have already reached a high level of performance, may use genetic information to optimize their training and extend their careers. However, the knowledge of genetics can also benefit the general population by providing clues to prevent or manage age-related diseases, such as obesity, type 2 diabetes, and muscle weakness. The Hero Project, which studies athletes' genetics, could potentially provide valuable insights for the rest of us to live healthier and longer lives. It's crucial to remember that genetics should not be used to discriminate or limit opportunities, but rather to enhance our understanding of the human body and improve our overall well-being.

    • Revolutionizing sports with geneticsGenetics in sports analytics can lead to injury prevention, better performance, and fair training methods, but raises ethical concerns regarding data privacy and potential discrimination

      The use of genetics in sports analytics has the potential to revolutionize the way athletes are evaluated and trained, much like the Oakland A's did with baseball statistics in Moneyball. This could lead to injury prevention and better performance, benefiting both athletes and teams. However, it raises ethical concerns regarding data privacy and potential discrimination against athletes based on their genetic information. It's crucial that proper regulations are put in place to protect athletes' genetic data and prevent discrimination. Knowledge is power, and in this case, having access to this information can lead to smarter training methods, fewer injuries, and better overall team performance. The implementation of such a system would require collaboration between athletes, coaches, trainers, and legal experts to ensure fairness and privacy.

    • Exploring Genetics in Sports Beyond Professional AthletesHigh schools and colleges are using genetic analytics for athletes, preventing injuries and optimizing performance, but ethical concerns and privacy issues arise.

      As we continue to advance in the field of genetic profiling and injury prevention, it's essential to consider its applications beyond just professional athletes. High schools and colleges are starting to explore the use of genetic analytics for their athletes, and the younger the athlete, the more potential there is to prevent injuries and optimize performance. However, it's important to note that this technology can also raise ethical concerns, such as the potential for genetic discrimination and privacy issues. Additionally, mental states and temperaments can also be genetically coded, opening up new possibilities for understanding and addressing various aspects of human behavior. Overall, the integration of genetics into sports and beyond is a complex issue that requires careful consideration and ongoing research.

    • Understanding Internal Factors Affecting Athlete's PerformanceGenetic testing for internal factors like motivation and focus raises ethical concerns, as it could potentially be misused and ignore the impact of upbringing and environment.

      While coaches and trainers can help athletes control external factors such as diet and training, they cannot control the internal factors that affect an athlete's focus and motivation. These internal factors, such as personal issues or distractions, can significantly impact an athlete's performance. In the future, there may be a possibility of genetic testing to determine a person's personality traits, motives, and morality. However, the ethical implications of such knowledge are concerning. If we could quantify and understand drive, for instance, we could potentially identify individuals with high levels of motivation and success in various areas of life. Yet, the influence of upbringing and environment cannot be ignored. Furthermore, the potential misuse of such knowledge could be dangerous. Therefore, it is crucial to approach such advancements with caution and consideration for individual privacy and autonomy.

    • Gene editing raises ethical concernsGene editing technology could enhance physical abilities, but it also brings ethical concerns and the risk of repeating past mistakes of eugenics and oppression

      The advancement of gene editing technology raises ethical concerns due to its potential for manipulating DNA and creating unfair advantages. The discussion highlighted the possibility of altering one's DNA to enhance physical abilities, such as running faster or having a better EPO receptor. While this technology could provide opportunities for individuals, it also brings back the dark history of eugenics and the potential for oppression. It is crucial to tread carefully and learn from the mistakes of the past to ensure that this newfound knowledge is used responsibly.

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