Genetic Testing for Sports Performance | Perform with Dr. Andy Galpin

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Key Genes
discusses the significance of specific genes like ACTN3 and ACE in sports performance. He explains that while certain genetic markers are associated with athletic prowess, having these markers does not guarantee elite performance. For instance, 85% of top athletes had 26 out of 28 key genetic markers, but many non-athletes also had a high number of these markers 1. Andy also shares a case where a rare genetic mutation led to exceptional athletic performance, highlighting the potential of genetic testing in identifying unique talents 2.
Just because you have 22 or more doesn't promise you anything about being a great athlete.
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Polygenic Traits
Andy explains that most human traits, including athletic performance, are polygenic, meaning they are influenced by many genes. The concept of a single gene determining a trait has been replaced by polygenic risk scores, which assess the collective impact of multiple genes. This shift in understanding came after the UK Biobank data release in 2017, which revealed the complexity of genetic influences on traits like VO2 max and muscle size 3. The Human Genome Project and subsequent studies have shown that thousands of genes contribute to physical performance, making it difficult to pinpoint specific genetic determinants 4.
Most complex human traits are, in fact, polygenic.
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Genetic Diversity
Andy emphasizes the importance of considering genetic diversity when interpreting genetic test results. He notes that over 90% of genetic databases are based on Caucasian backgrounds, which can lead to inaccurate conclusions for individuals from other ethnic groups. For example, the ACE gene's influence on performance varies significantly across different populations, predicting 20% of variance in Caucasians but only 6% in Pima Indians 5. This highlights the need for more inclusive genetic research to ensure accurate and relevant findings for all demographics 6.
Genetic background is incredibly important for interpreting and properly contextualizing reports from a sports genome test.
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