Stephan Dietrich A
Silicon Valley Biosystems, Navigenics, Menlo Park, CA 95026, USA.
Recent Pat DNA Gene Seq. 2012 Dec;6(3):175-9. doi: 10.2174/187221512802717376.
An extraordinary revolution in medical research has taken place over the past decade, enabled by the completion of the first human genome sequence in 2001. The Human Genome Project (HGP) has resulted in the 6 billion letter reference human genome sequence and the ultra-high throughput technologies used by medical researchers to identify correlations between positions within the human genome (genotypes) and diseases or traits (phenotypes). Just as every human disease has a genetic component, so too does every human trait. The vast majority of these diseases and traits also have an environmental component that works in conjunction with the body's hardwiring to produce the resultant phenotype- termed "complex genetic traits". A derivative of the HGP has been a deeper understanding not only of diseases but of normal human variability across the population, including aspects of athleticism. The technologies also now exist for consumers to cheaply gain access to variations in the genetic code that are correlated to traits that confer aspects of longevity, memory performance, athleticism and a multitude of others there-through gaining insight into propensities. Communication of propensity to a phenotype such as athletic performance is fraught with technical, legal (e.g., patents), social and ethical issues. That being said, the information is available, has benefit in some cases, and will be utilized in the future. Given that the "genie is out of the bottle" with respect to our ability to deliver this genetic information to individuals, over the past decade our team has worked diligently to craft the appropriate testing and communication paradigms for complex traits. Here we discuss several of the major risks and benefits of this type of testing for athletic performance. It is important to understand the limitations of genetic information in determining the vast majority of traits.
在过去十年里，医学研究领域发生了一场非凡的革命，这得益于2001年首个人类基因组序列的完成。人类基因组计划（HGP）已得出了包含60亿个字母的人类参考基因组序列，以及医学研究人员用于确定人类基因组内位置（基因型）与疾病或特征（表型）之间相关性的超高通量技术。正如每种人类疾病都有遗传成分一样，每种人类特征也是如此。这些疾病和特征中的绝大多数还具有环境成分，该成分与身体的固有结构共同作用，产生最终的表型——即“复杂遗传特征”。HGP的一个衍生成果是，人们不仅对疾病有了更深入的了解，还对整个人口中正常的人类变异性有了更深入的了解，包括运动能力的各个方面。现在，消费者也能够以低成本获取与长寿、记忆表现、运动能力等众多其他特征相关的遗传密码变异信息，从而深入了解自身的倾向。将倾向与运动表现等表型进行关联的过程充满了技术、法律（如专利）、社会和伦理问题。话虽如此，这些信息是存在的，在某些情况下是有益的，并且在未来会被利用。鉴于我们向个人提供这种遗传信息的能力已经“潘多拉魔盒大开”，在过去十年里，我们的团队一直在努力为复杂特征精心设计合适的检测和沟通模式。在此，我们讨论这种运动表现检测的几个主要风险和益处。了解遗传信息在确定绝大多数特征方面的局限性很重要。
