第2786期:The Life-saving Secrets In Your Baby(2)

People were aghast. They thought we were going to do terrible medical things to these children. They thought there was going to be catastrophic psychological distress, and they thought we were going to spend all sorts of money. So we've spent ten yearsexquisitely studying the medical, behavioral and economic impact of newborn genetic sequencing. And we don't have all the answers yet, but I have to tell you that what we've discovered so far is pretty reassuring.↳人们当时都很震惊。他们以为我们要对这些孩子进行可怕的医学实验；他们以为这会带来灾难性的心理创伤；他们还以为我们会花费大量的金钱。于是，我们花了十年时间，精细地研究新生儿基因测序在医学、行为和经济上的影响。虽然我们还没有得到全部的答案，但到目前为止的发现已经相当令人安心。Now, what was really surprising about this was what we found in these normal babies. If you take, let's say, 400 genes which represent conditions that are treatable today, absolutely treatable, in about 1,000 families, we found mutations in those genes in about four percent of these babies. Four percent.真正让人惊讶的是，我们在这些健康的新生儿中发现了什么。假设我们取大约400个基因，这些基因代表了当今可以明确治疗的疾病，在大约1000个家庭的新生儿中，我们发现约4%的婴儿携带这些基因的突变。4%！And if you expanded that gene list to be, let's say, 5,000 genes long, and that includes conditions that aren't treatable yet, conditions that maybe attack you in adulthood, we found an incredible 12 percent of these babies were carrying such mutations.如果把这个基因列表扩展到大约5000个基因，其中包括目前尚不可治疗、可能在成年后才会发病的疾病，那么我们发现竟有高达12%的婴儿携带这类突变。Now, remember, that doesn't mean that all of these children are going to get the disease. But it does mean that if you know the risk that the children have, then your pediatrician and your family can be on the lookout for vague symptoms that would otherwise be overlooked.当然，请记住，这并不意味着所有这些孩子都会得病。但这确实意味着，如果你知道孩子所具有的风险，那么儿科医生和家人就可以提前留意一些本来可能被忽视的模糊症状。This isn't a small problem. If this holds, that means in the United States, there are over 400,000 babies a year that will carry these risk mutations, and worldwide, that's over 15 million babies a year that will carry these risk mutations. It's kind of ironic, isn't it, because these are individually rare diseases, many of them you won't even have heard of, but together they are a massive medical problem.这可不是一个小问题。如果这个比例成立，那就意味着在美国，每年会有超过40万名婴儿携带这些风险突变；而在全球范围内，每年会有超过1500万名婴儿携带这些风险突变。这有点讽刺，不是吗？因为这些疾病单独来看都很罕见，许多甚至你从未听说过，但加在一起，它们却构成了一个巨大的医学难题。