第2788期:The Life-saving Secrets In Your Baby(4)

But that system is overburdened, under-resourced, and since 2008, it's only added nine new conditions. And as we've just said, there are several hundred treatable genetic conditions today. It’s going to be very hard for them to keep up.但该体系人手不足、资源匮乏，自2008年以来仅新增了九种疾病。正如我们刚才所说，如今有数百种可治疗的遗传性疾病，单靠现有体系很难跟得上。

Why are people so resistant? Why aren't we demanding this? Well, part of the reason is human psychology, right? You bring home this perfect little baby, and you don't really want to look for something that might be wrong, even if, intellectually, you know it might be treatable. But we've got to get past that.人们为什么如此抗拒？为什么我们不去强烈要求普及这项技术？部分原因来自人类心理：把这个完美的小宝宝带回家后，你并不想去寻找可能存在的问题——即便从理智上你知道这些问题可能是可治疗的。但我们必须突破这种心理障碍。

The other reason is privacy concerns. And this is sort of ironic because privacy concerns are real. Your DNA is a biometric. It's kind of like a fingerprint. There's certainly some law enforcement considerations, but if somebody steals my genome, they really can't make much of it. Whereas if they steal my electronic footprint or your electronic footprint, there's a lot more harm that can be done.另一个原因是隐私担忧。这有点讽刺，但隐私担忧确实存在。你的DNA是一种生物识别信息，有点像指纹。确实存在执法方面的考虑，但如果有人窃取了我的基因组，实际上他们也很难利用它做太多事情；而如果窃取了我的电子足迹或你的电子足迹，就可能造成更多的伤害。

So I'm not saying we shouldn't be concerned about privacy. In fact, privacy is protected when you look for genomic information in a medical context, just like it's protected for your psychiatric history and your HIV status and so forth.我并不是说我们不该关心隐私问题。事实上，在医疗情境下查找基因组信息会受到隐私保护，就像精神病史、艾滋病感染状况等信息一样受保护。

It's also been confusing to have direct-to-consumer genetic testing. Now, these companies, for the most part, were very honest about what they offered, but they were not protected by these same legal protections as health care. And typical direct-to-consumer companies use a technology called genotyping. So they're looking for various markers in the genome, which is good for ancestry and traits, but not so good for mutations. For that, you really need the sequencing, every single letter of the DNA, and that's 5,000 times more granular.直接面向消费者的基因检测也令人困惑。这些公司在很大程度上对其提供的服务是坦诚的，但它们并不受与医疗保健相同的法律保护。典型的直接检测公司使用的是一种叫做基因分型（genotyping）的技术，因此它们寻找的是基因组中的各种标记，这对祖源和性状分析很有用，但对检测突变并不十分可靠。要检测突变，确实需要测序——也就是读取DNA的每一个碱基——这种方法的精细度高出约5000倍。