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Bursting the DNA Bubble ＤＮＡ泡沫破灭

 

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The study of the human genome is popular, but is it actually helping?  人类基因组研究正夯，但真的有帮助吗？

 

When the human genome was first sequenced nearly a decade ago, the world lit up with talk about how new gene-specific drugs would help us cheat death. Well, the verdict is in: Keep eating those greens.

将近十年前，当人类基因组首次完成排序时，全世界热烈讨论新式特定基因药物将可能会助我们逃过一死。现在终于有定论了：请大家继续吃绿色蔬菜吧（译注：指与其仰赖遥不可期的基因药物，还不如多吃蔬菜比较有帮助）。

 

The genome, as we all know, largely determines what we look like, our traits, and, significantly, our susceptibility to disease and other disorders. Tens of thousands of well-funded researchers around the world are trying to determine which segments of the genome contribute to which disorders. It is one of the biggest scientific endeavors in history, premised on the notion that the results can be used to prevent or fix many things, or possibly everything, that ails the human body – from allergies to cancer to aging itself.

众所皆知，我们的长相、特征、尤其是对疾病及其他失调症的易罹病性，主要都是取决于我们的基因组。全球数以万计、经费充裕的研究人员，努力想判定基因组的哪些部份会造成何种失调症。这是史上规模最庞大的科学研究之一，前提是相信研究结果可用于预防或治疗过敏、癌症、乃至老化等许多病症，或甚至是所有人体的病痛。

 

Confusing connections  说不清楚、讲不明白的关系

 

Scientists have indeed been superb at finding connections between disorders and various strips of DNA. But it turns out that in the vast majority of cases, these connections happen to be convoluted, with any one disorder related to many genes and any one gene affecting many things in the body. Even when researchers are able to highlight a clear relationship between a single gene and a single disorder, they generally have little or no idea how those chunks of DNA are causing problems. Then there’s the disturbing tendency of gene-related treatments either to fail to work on the vast majority of people or else to entail horrific side effects.

科学家在找出失调症与各个不同串段的DNA的关联方面，确实表现优异，但最后却发现，在绝大多数的案例中，这些关联恰都错综复杂，也就是某种疾患与多个基因有关，而某一基因则会影响人体许多地方。就算研究人员能够标示出单一基因与单一疾患的明确关系，但对于那几段DNA究竟是如何造成问题发生，他们通常还是一知半解甚或毫无头绪。此外，基因相关治疗要不是对大多数人无效，就是会导致可怕的副作用，这种走势也令人忧心。

 

Yes, we’ve cracked the genome. Experts can identify every one of the 3 billion bases in every micrometer of DNA in any cell in your body. But so far, that has not given the medical world any more ability to treat or predict most illness.

没错，人类是已经破解了基因组。专家可以辨认出人体任一细胞任一微米DNA 所含的三十亿个碱基，但是到目前为止，这对于医界治疗或预测大多数疾病的能力，并没有多大帮助。

 

 

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genome [ˋdʒi͵nom] n.【生】基因组

sequence [ˋsikwəns] v. [生化]确定…的顺序，确定…的化学结构序列

light up 点燃; 喜形于色, 露出愉快的表情

cheat death 逃脱死亡

verdict [ˋvɝdɪkt] n.【口】定论；判断；意见

trait [tret] n. 特征，特点，特性

susceptibility [sə͵sɛptəˋbɪlətɪ] n. 易受影响或损害的状态

well-funded 资金充足；资金充裕的

endeavor [ɪnˋdɛvɚ] n. 尝试; 努力

ail [el] v. 使受病痛

superb [sʊˋpɝb] adj. 杰出的

highlight [ˋhaɪ͵laɪt] v. 使显着，使突出

disturbing [dɪˈstɜːbɪŋ] adj. 令人不安的

entail [ɪnˋtel] v. 导致

base [bes] n.【化】碱；盐基

 

 

 

 

 

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Humans are surprisingly complex  出乎意料复杂的人类

 

In truth, scientists knew something was wrong as soon as they counted up the genes after cracking the first genome. Until then, there were thought to be about 100,000 genes, and it seemed remarkable that an entity as complex as a human being could be specified by so few pieces of code. But when the genes in the finished genome were tallied, they came to about 25,000. If there were one-fourth as many genes, then each gene was on average doing four times as much as they’d thought.

事实上，科学家在破解第一个基因组后计算基因数目时，立刻就知道情况不妙。在此之前，科学家认为基因的数目大约是十万个，这么少的密码却能定义出像人体这么复杂的实体，似乎很了不起。但是等排序完成基因组的基因数目计算出来，结果却是两万五千左右。如果基因数目只有原本以为的四分之一，那么每一个基因平均所作的工作，就会是原本预计的四倍之多。

 

It turns out that many dozens or even hundreds of genes each contribute to any given human attribute, and any one gene might contribute to several. Genes, in other words, turn out to work not as simple disease switches, but in impossibly complex networks.

结果发现，任何一个人类特征是由好几十个、甚至数百个基因所造成的，而任一基因则可能与好几项特征有关。换句话说，基因的作用并非是单纯的疾病开关（译注：指某个基因与某种疾病的发生与否有密切关连），而是在超乎想象的复杂网络中发挥作用。

 

The simple fact is still just don’t know very much about genes, says Craig Venter, who famously spearheaded the push to sequence the human genome and remains a driving force in genetics research. “We don’t know what most genes do, and we certainly don’t know what the variations are in most people.”

克雷格．文特表示，简言之，我们对于基因的了解还不是很多。文特是推动人类基因组定序的著名先驱，现在依然是基因研究的重要推手。他指出，「我们不清楚大多数基因的作用，而且当然也不知道大部分人的基因变异为何。」

 

More questions than answers  问题比答案多

 

For scientists, the fact that the genome has raised far more questions than it has answered is a treasure trove of opportunity. The National Institutes of Health has funded roughly 280 new studies that each comb through multiple genomes; one new project alone has set out to map the genomes of 1,000 people. About 35 million strips of DNA have already been catalogued in one form or another as being common to all people, and the number is growing steadily. But solidly verifying most potentially useful gene links would necessitate poring over at least 10,000 genomic samples, and rarer links would require samples from more people than live on the planet.

对科学家而言，基因组引发的问题比解决的问题还多的这个事实，其实反而是蕴藏无限良机的宝库。美国国家卫生研究院资助了大约两百八十项新研究，每项研究仔细检视多个基因组；光是其中一项新计划，就已经开始着手建立一千个人的基因组图谱，约有三千五百万段所有人共有的DNA，已经以各种方式登录，这个数字仍然在稳定成长之中。但是要完全证实大部分可能有用的基因关联，就必须仔细研究至少一万个基因组样本，而且较罕见的基因关联所需样本来源，其实会比地球人口还多。

 

 

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count up 算出...的总数 to count things or people to see how many there are

until then 在此之前

specify [ˋspɛsə͵faɪ] v. 详细指明；明确说明

contribute [kənˋtrɪbjut] v. 贡献，提供[（+to/towards）]

variation [͵vɛrɪˋeʃən] n. 变化；变动；变化的程度

trove[ trov] n. 贵重的发现物（= treasure trove）

comb through 彻底检查; 研究; 梳理 to look through something, examining it thoroughly

catalogue [ˋkætəlɔg] v. 归类，编列目录; 登记，记载

solidly [ˋsɑlɪdlɪ] adv.  (证据、消息等)可靠地，确凿地

verify [ˋvɛrə͵faɪ] v. 证明，证实

necessitate [nɪˋsɛsə͵tet] v. 使成为必需，需要[+v-ing]

rare [rɛr] adj. 稀有的，罕见的

 

 

 

 

 

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Little payoff so far  至今无斩获

 

Many say it’s not fair to claim that the genome hasn’t paid off, insisting that all sorts of marvelous new drugs are still in the decade-long drug-development and testing pipeline. It’s true that the Human Genome Sciences lupus drug suddenly looks promising, but other specific examples are hard to come by.

许多人表示，研究基因组得不偿失的这种说法并不公平，他们坚称，各类神奇新药都还在进行为期十年的药物研发与测试。虽然人类基因组科学公司治疗狼疮的药物突然间显得大有可为，但是除此之外，似乎举不出其他具体例证了。

 

Others say what we’re getting out of genomics is “personalized medicine.” That is, by having our personal genes read, we’ll find out what diseases we’re at risk for and which drugs will work best for us.

有人则说，我们从基因组学之中得到的是「个人化药物」。也就是说，解读过个人基因之后，就会发现自己有罹患哪些疾病的风险，以及什么药我们最有效。

 

“The question is, What does knowing about a gene give you that you don’t already know?” says Jay Kaufman, who heads product marketing at Affymetrix. Why get tested for genetic risk of heart disease if your doctor has already put you on statins because you’re overweight and have high LDL cholesterol? What can your doctor do with the fact that you carry a gene that puts you at higher risk of Alzheimer’s? Who need a gene test to find out they’re at risk for obesity when they can just look in the mirror?

在艾菲矩阵公司（译注：Affymetrix是美国研发生物芯片的龙头公司）担任产品营销主管的杰伊．考夫曼表示，「问题是，知道有关基因的事会告诉你什么原本不知道的事吗？」如果你已经因为体重过重与坏胆固醇过高而被医师要求服用降血脂药，那何必还要测试自己的基因是否有罹患心脏疾病的风险？就算知道你带有较易罹患阿兹海默症的基因，医生又能如何？照照镜子就能知道的事，谁还需要做基因测试来知道自己是否有肥胖的风险？

 

Does the genome matter at all?  基因组到底重不重要？

 

None of this is to say we shouldn’t have bothered with the genome, or that we should stop working on it now. But we shouldn’t base our decisions to invest in the science or in the biotech that comes out of it on an incomplete understanding of how long a task we’re facing.

以上并非意指我们当初不该花那么多精神去研究基因组，也不是要我们现在就停止研究。但是在决定投资基因组学或是衍生出的生物科技之前，我们对于所面对的工程有多耗时，应该先要有完整的了解才行。

 

There really has been a payoff from the genome, if an indirect one: In the vast majority of cases, individual genes apparently don’t influence your destiny as much as, or at least any more than, your behavior does. So lose weight. Get some exercise. Breathe clean air. Don’t smoke. It’s pretty much the same advice your great-grandfather got from his doctor. I bet it’s the same advice your great-grandchildren will get from theirs.

此外，研究基因组其实也有好处，不过，是间接的好处：在绝大多数案例中，个人基因对命运的影响力，显然不如、或至少不会大过于个人行为的影响力。所以，请你减重、运动、呼吸新鲜空气、不要抽烟，这和医师告诉你的曾祖父的话差不多，我敢说，这和以后医师告诉你曾孙的话也相同。

 

−by David H. Freedman

 

 

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payoff [ˋpe͵ɔf] n. 收益

pay off【口】(尤指冒风险的政策、做法等)带来好结果, 成功, 行得通

lupus [ˋlupəs] n.【医】狼疮

come by 得到; 获得; 接近 obtain, especially accidentally

bother [ˋbɑðɚ] v. 麻烦，费心[（+with/about）][+to-v][+v-ing]

 

 

 

 

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Vocabulary Focus

verdict is in 裁决有了定论 a judgment or conclusion about something has been reached

premise [ˋprɛmɪs] / [prɪˈmaɪz] v. 提出..为前提; 前提.. ; 假设 to base a theory on an idea or belief that is thought to be true

convoluted [ˋkɑnvə͵lutɪd] adj. 错综复杂的 describes theories, explanations, etc. that are unreasonably long and difficult to understand; complicated

tendency [ˋtɛndənsɪ] n. 趋势，潮流 the likelihood that something will happen, or often happens

crack [kræk] v. 破解（密码），解开（难题等）to find a solution to a problem

tally [ˋtælɪ] v. 计算，清点; 记录 to record or count a number of items

spearhead [ˋspɪr͵hɛd] v. 当……的先锋；带头 to lead a course of action

treasure trove【英】【律】物主不明的贵重埋藏物；有价值的发现（或收藏）物 a place that is full of something valuable

pore over 钻研(某事物); 审察; 审视 to study or look carefully at something, especially a document

in the pipeline (指变化、法令、建议等)在准备(或讨论、酝酿中), 即将发生 something that is being developed and will happen in the future

indirect [͵ɪndəˋrɛkt] adj. 间接的；非直接相关的 happening in addition to an intended result, often in a way that is complicated or not obvious