????Verinata公司的研發(fā)副總裁理查德?拉瓦指出：“從現(xiàn)在開始的五六年里，醫(yī)療干預(yù)將對(duì)我們所檢測(cè)的病癥產(chǎn)生影響。有些事可能現(xiàn)在研究起來(lái)沒有意義，但是將來(lái)它們一旦成為一種療法，其意義可能很重大?！崩弑硎荆?dāng)初Verinata公司剛開始進(jìn)行其Verifi NIPT測(cè)試的時(shí)候，亞染色體的插入或缺失（也就是導(dǎo)致前文所述的“缺失癥候群”的原因）還被列入“未知臨床重要因素”。人們只知道其中不超過(guò)20%的染色體插入和缺失與兒童的特定發(fā)育問(wèn)題有關(guān)。而有些在兩年前還意義不大的問(wèn)題現(xiàn)在已經(jīng)變得非常重要了。隨著基因?qū)W家抽絲剝繭地理清更多基因與基因療法之間的關(guān)系，這個(gè)趨勢(shì)也必將繼續(xù)下去。

????拉瓦說(shuō)：“告訴某個(gè)人‘你孩子的5號(hào)染色體末端丟失了，我們也不知道這代表什么，所以看好你的孩子’是沒有意義的。現(xiàn)在我們知道這些東西有重大的臨床意義，而這些事是人們想知道的。所以如果它在三年后還沒有成為一種常規(guī)測(cè)試，我反倒會(huì)很震驚?！?/p>

????不過(guò)，對(duì)于NIPT能否在中期成為一項(xiàng)標(biāo)準(zhǔn)的產(chǎn)前檢查項(xiàng)目，很多分析師由于它高昂的成本而對(duì)此并不樂觀。國(guó)際戰(zhàn)略投資集團(tuán)的醫(yī)療分析師庫(kù)瑪爾表示，NIPT測(cè)試的價(jià)格必須要降到200美元以下。因?yàn)槟呐翹IPT測(cè)試的價(jià)格只有500美元，乘以400萬(wàn)，也不是美國(guó)的托管式醫(yī)療行業(yè)能承受的起的。NIPT要想從高風(fēng)險(xiǎn)人群診斷普及到一般人群的標(biāo)準(zhǔn)篩查手段，四到五年的時(shí)間可能是一個(gè)更現(xiàn)實(shí)的目標(biāo)。庫(kù)瑪爾說(shuō)：“我認(rèn)為它最終會(huì)成為一種主要的篩查手段，不過(guò)我也認(rèn)為要實(shí)現(xiàn)這個(gè)目標(biāo)可能還需要一段時(shí)間。”（財(cái)富中文網(wǎng)）

????譯者：樸成奎

????"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."