We are all prisoners of our own genomes, but our genomes are cages that we cannot see. What if you were given a magic wand that could extract your genome from its shroud of invisibility? Would you choose to use it? And, if you did, would you be any less the prisoner?

好吧，这样的魔杖现在是您的（Beta），价格为1,000美元左右，这些问题变得非常真实。基因组学的新现实是描述个人而不是物种的工具Cold Spring Harbor "Personal Genomes & Medical Genomics" meeting（在11月14日至17日举行），该公司在讲述临床基因组革命的故事时相互呼应一系列演讲者。在过去的几个月中，已经见证了医学史上真正关键的时刻：神秘疾病的患者多年来一直毫无疑问，他们在100秒和1000年代被测序，并以诊断性的成功率进行了测序。在四分之一和三分之一的患者之间。

“缺失”诊断
Better news still is the optimism that this rate can be improved even further. The most common approach used in clinical genomics is外显子组测序（（that's just the genes; the whole shebang is pricier and generally somewhat unfathomable to interpret), so it might be the case that some of the missing diagnoses are to be found outside of the exome. Such an eventuality is not too disheartening, because whole genome sequencing is predicted to become more affordable, and because, as a greater volume of data is generated, perhaps we will arrive at a more sophisticated understanding of the genome's dark matter.

挽救生命的基因组学
Even at the current success rate, the power of clinical genomics is life changing to many human beings that had previously been viewed as undiagnosable: this is at heart a real human story more than a scientific one. In some instances, the discovery of a mutation was so informative that it led to a挽救生命或增强生命治疗。还指出，在没有随后的治疗的情况下，诊断本身对于提供安心或封闭的人来说可能非常有价值，或者将遗传学因果放心给遭受罪恶感不佳的家庭。

相反，当涉及到药物基因组学: this is a discipline that is very unlikely to alter your philosophical sense of self, but is of enornmous practical use, particularly in drug safety (but also in guiding the choice of drug for maximum efficacy).

Whose genome is it anyway?
虽然我们照亮一个人的通用能力nome, and in some cases even liberate the prisoner trapped within, is undoubtedly now a force for good in the clinic, it also raises difficult questions and challenges that in many instances we are poorly equipped to answer. A common theme wasthe problem of so-called "incidental" findings- 这些数据与所研究的疾病或表型无关，但否则可能会引起个人感兴趣的数据。如果发现已知会引起疾病风险的突变，是否应该告知患者？家庭成员呢，谁也可能继承了这种变体？报告偶然发现的阈值应该是什么风险因素？没有治疗或预防措施的疾病呢？这些信息实际上会弊大于利吗？

一个相关的问题是，在存储库和数据库中公开提供个人基因组数据的问题。毫无疑问，这将有助于研究，但是数据的开放性是否代表了个人对个人隐私的侵犯？当我们处理新颖和复杂的概念以及许多未知数时，我们如何满足患者对这种开放性的同意？

另一个关键问题是在诊断时如何在速度和准确性之间妥协至关重要。当然，伴随的挑战是开发更快的测序和分析管道。

个人基因组的个人测序
如今，每次基因组学会议的房间里的一头大象是承诺的，但尚未实现，牛津纳米孔sequencer. While the new dawn of clinical genomics has been driven by immense technological strides in equipment that is already on the market, the hypothetical specs of the nanopore constitute the holy grail of sequencing. Indeed, the device is awaited by some with quasi-messianic fervor.

牛津纳米波尔项目的一个令人兴奋的功能是，计划将技术作为USB大小的“奴才”音序器提供，可以在任何地方运行，您可以在任何地方运行笔记本电脑或平板电脑设备。当许多生物信息学实验室目前致力于开发的愚蠢分析软件的希望伴随着，“奴才”将减少对专业测序和分析服务的需求，就像“直接对消费者”公司（例如23andme已经绕过了访问您的基因组数据的临床医生的需求。是个人的测序个人的genomes the future? Will you, the prisoner, uncover the hidden depths of your genome in between levels of Angry Birds?