生育大事件：准妈妈滴血可查胎儿基因

    Verinata公司的研发副总裁理查德•拉瓦指出：“从现在开始的五六年里，医疗干预将对我们所检测的病症产生影响。有些事可能现在研究起来没有意义，但是将来它们一旦成为一种疗法，其意义可能很重大。”拉瓦表示，当初Verinata公司刚开始进行其Verifi NIPT测试的时候，亚染色体的插入或缺失（也就是导致前文所述的“缺失症候群”的原因）还被列入“未知临床重要因素”。人们只知道其中不超过20%的染色体插入和缺失与儿童的特定发育问题有关。而有些在两年前还意义不大的问题现在已经变得非常重要了。随着基因学家抽丝剥茧地理清更多基因与基因疗法之间的关系，这个趋势也必将继续下去。

    拉瓦说：“告诉某个人‘你孩子的5号染色体末端丢失了，我们也不知道这代表什么，所以看好你的孩子’是没有意义的。现在我们知道这些东西有重大的临床意义，而这些事是人们想知道的。所以如果它在三年后还没有成为一种常规测试，我反倒会很震惊。”

    不过，对于NIPT能否在中期成为一项标准的产前检查项目，很多分析师由于它高昂的成本而对此并不乐观。国际战略投资集团的医疗分析师库玛尔表示，NIPT测试的价格必须要降到200美元以下。因为哪怕NIPT测试的价格只有500美元，乘以400万，也不是美国的托管式医疗行业能承受的起的。NIPT要想从高风险人群诊断普及到一般人群的标准筛查手段，四到五年的时间可能是一个更现实的目标。库玛尔说：“我认为它最终会成为一种主要的筛查手段，不过我也认为要实现这个目标可能还需要一段时间。”（财富中文网）

    译者：朴成奎

    "Therapeutic interventions will influence what things we test for five or six years from now," Dr. Richard Rava, vice president of research and development at Verinata, says. "There are things that are pointless to learn about right now,but in the future they very well might become relevant as therapies." When Verinata first started working on its Verifi NIPT test, Rava says, sub-chromosomal insertions or deletions -- the cause of the aforementioned so-called "deletion syndromes" -- were filed under "unknown clinical significance." Now more than 20% of those insertions and deletions are known to be connected with actual developmental outcomes for the child. What was irrelevant two years ago is already becoming relevant, and that trend will continue as geneticists connect more dots between the genome and the way it manifests itself in the body.

    "There's no point in telling someone 'Your child is missing the end of chromosome 5, and we don't know what that means, so watch you child,'" Rava says. "Now we know these things have clinical relevance, and that's something people want to know. I would be shocked if this wasn't part of the test three years from now."

    Still, for all of NIPT's promise, the obstacle of cost has some analysts feeling less than optimistic about the technology becoming a standard of prenatal care in the near-term. The price point has to come in below $200, ISI's Kumar says, noting that 4 million pregnancies multiplied by even just $500 is far more than the managed care industry will care to shoulder. Four or five years is a more realistic target for NIPT technology to transition from high-risk diagnostic to general population standard of care. "I think eventually this is going to be used as primary screening, I believe that," Kumar says. "But I do think it's going to take awhile."