好英语网基因测试结果，不能说的秘密
Dr. Arul Chinnaiyan stared at a printout of gene sequences from a man with cancer, a subject in one of his studies. There, along with the man’s cancer genes, was something unexpected — genes of the virus that causes AIDS.
密歇根大学转化病理学（Translational Pathology，将分子水平研究快速应用到医学实践的桥梁学科）中心主管阿鲁∙奇那安(Arul Chinnaiyan)医生正盯着一张基因序列打印图。样品来自他的研究对象：一名癌症病人。医生意外地发现，除了癌症基因，序列里还有艾滋病毒的基因。
It could have been a sign that the man was infected with H.I.V.; the only way to tell was further testing. But Dr. Chinnaiyan, who leads the Center for Translational Pathology at the University of Michigan, was not able to suggest that to the patient, who had donated his cells on the condition that he remain anonymous.
这有可能是病人已感染了艾滋病毒的征兆，但仍需进一步检查才可确认。然而，奇那安医生不能告诉病人这件事。病人提供细胞的时候签署了匿名捐赠的同意书。
哈佛大学的罗伯特·C.格林发现，如果想要警告有患病风险的匿名研究对象，可能会遭遇实际操作或伦理上的问题。
In laboratories around the world, genetic researchers using tools that are ever more sophisticated to peer into the DNA of cells are increasingly finding things they were not looking for, including information that could make a big difference to an anonymous donor.
在世界各地的实验室里，遗传学研究者们正运用着日益精密的手段审视着细胞中的DNA，并越来越多地得到超乎预期的结果，包括对匿名捐赠者意义非凡的重大信息。
The question of how, when and whether to return genetic results to study subjects or their families “is one of the thorniest current challenges in clinical research,” said Dr. Francis Collins, the director of the National Institutes of Health. “We are living in an awkward interval where our ability to capture the information often exceeds our ability to know what to do with it.”
研究者该怎样、何时、是否应当将基因研究的结果反馈给研究对象及其家人——“是当今临床研究中最棘手的挑战之一，”美国国家卫生研究院(National Institutes of Health)院长弗朗西斯∙柯林斯(Dr. Francis Collins)说：“我们处在一个很窘迫的中间地带：掌握信息的能力往往超出了实际应对的能力。”
The federal government is hurrying to develop policy options. It has made the issue a priority, holding meetings and workshops and spending millions of dollars on research on how to deal with questions unique to this new genomics era.
联邦政府已将此事作为重中之重，正积极地制定政策选择。他们开始召开会议、举办研讨会、投入大笔资金研究如何解决这全新的基因组时代带来的独特难题。
The quandaries arise from the conditions that medical research studies typically set out. Volunteers usually sign forms saying that they agree only to provide tissue samples, and that they will not be contacted. Only now have some studies started asking the participants whether they want to be contacted, but that leads to more questions: What sort of information should they get? What if the person dies before the study is completed?
窘境来自实验初始时刻的约法三章。志愿者通常会签一份同意书，声明他们只提供组织样本，日后不可以被研究人员联系。一直到最近，一些新的研究才开始询问志愿者愿不愿意将来被联系到。但这种方式又引发了更多的疑问：什么样的信息应该让他们知道？如果在研究结束前他们去世了怎么办？
The complications are procedural as well as ethical. Often, the research labs that make the surprise discoveries are not certified to provide clinical information to patients. The consent forms the patients signed were approved by ethics boards, which would have to approve any changes to the agreements — if the patients could even be found.
麻烦既体现在操作上，又体现在伦理道德上。通常情况下，取得惊人发现的实验室研究人员是无权向病人披露临床信息的。病人签署的同意书由伦理委员会(ethics boards)批准生效，任何改动都必须经过委员会的批准——前提是如果那个病人还能被找到的话。
Sometimes the findings indicate that unexpected treatments might help. In a newly published federal study of 224 gene sequences of colon cancers, for example, researchers found genetic changes in 5 percent that were the same as changes in breast cancer patients whose prognosis is drastically improved with a drug, Herceptin. About 15 percent had a particular gene mutation that is common in melanoma. Once again, there is a drug, approved for melanoma, that might help. But under the rules of the study, none of the research subjects could ever know.
有时候，研究结果会表明，某些意想不到的治疗方法兴许能奏效。比如，一项刚刚公布的联邦调查显示：在224名胰腺癌患者的基因序列中，5%的基因改变与乳腺癌患者的一模一样，而使用赫赛汀（Herceptin，抗体药物）可令乳腺癌患者预后甚佳；有15%的病人具有某个特殊的在黑色素瘤中也常见到的基因突变，同样，已批准的黑色素瘤药物可能对胰腺癌也有效。然而，受制于已有的条例，224名参与者将无一得知此结果。
Other times the findings indicate that the study subjects or their relatives who might have the same genes are at risk for diseases they had not considered. For example, researchers at the Mayo Clinic in Rochester, Minn., found genes predisposing patients to melanoma in cells of people in a pancreatic cancer study — but most of those patients had died, and their consent forms did not say anything about contacting relatives.
也有时，结果会显示研究对象具有某种疾病的易感基因，他们的亲属很可能也有，不过他们自己毫无意识。比如，明尼苏达州罗切斯特市的梅奥医学中心(Mayo Clinic)曾在胰腺癌患者的细胞中发现了易导致黑色素瘤的基因。可惜，大部分当时的研究对象都已经去世，同意书上也没提任何有关联系亲属的问题。
One of the first cases came a decade ago, just as the new age of genetics was beginning. A young woman with a strong family history of breast and ovarian cancer enrolled in a study trying to find cancer genes that, when mutated, greatly increase the risk of breast cancer. But the woman, terrified by her family history, also intended to have her breasts removed prophylactically.
首批类似案例发生在10年前，那时人类刚刚步入基因组时代。一位有严重乳腺癌及卵巢癌家族遗传史的年轻女性参加了一项科学研究，旨在发现一旦突变将极大增加患乳腺癌几率的癌症基因。出于对家族遗传的深深担忧，这位女性想要切掉两只乳房，以防万一。
Her consent form said she would not be contacted by the researchers. Consent forms are typically written this way because the purpose of such studies is not to provide medical care but to gain new insights. The researchers are not the patients’ doctors.
她签过的同意书上写明了研究人员不会试图联系她。同意书一般都是这种模式，因为科研的目的是得到新见解，而非提供医疗护理服务。研究人员并不是医生。
But in this case, the researchers happened to know about the woman’s plan, and they also knew that their study indicated that she did not have her family’s breast cancer gene. They were horrified.
可是这回，研究人员碰巧知道了她的打算，同时也知道实验结果表明她并没有遗传到家族的乳腺癌基因。他们担心极了。
“We couldn’t sit back and let this woman have her healthy breasts cut off,” said Barbara B. Biesecker, the director of the genetic counseling program at the National Human Genome Research Institute, part of the National Institutes of Health. After consulting the university’s lawyer and ethics committee, the researchers decided they had to breach the consent stipulations and offer the results to the young woman and anyone else in her family who wanted to know if they were likely to have the gene mutation discovered in the study. The entire family — about a dozen people — wanted to know. One by one, they went into a room to be told their result.
“我们不能坐视不理，眼睁睁地看着她切掉健康的乳房。” 美国国家人类基因组研究所（National Human Genome Research Institute，隶属于国家卫生研究院）遗传咨询项目主管芭芭拉·B·比泽克(Barbara B. Biesecker)医生说。在咨询了学院的律师和伦理委员会后，研究人员决定违约，向那名年轻女性，以及她的家族里任何想了解自己是否可能基因突变的成员提供研究结果。所有家庭成员——大约12人左右——都想知道。她们一个一个走进一间会议室，听候结果。
“It was a heavy and intense experience,” Dr. Biesecker recalled.
“那真是一场沉重而紧张的经历。”比泽克医生回忆道。
Around the same time, Dr. Gail Jarvik, now a professor of medicine and genome science at the University of Washington, had a similar experience. But her story had a very different ending.
是在差不多同一时期，盖尔·亚尔维克(Gail Jarvik)博士也经历了类似事件，她目前是华盛顿大学(University of Washington)医学与基因组学的教授。只是故事的结局有着天壤之别。
She was an investigator in a study of genes unrelated to breast cancer when the study researchers noticed that members of one family had a breast cancer gene. But because the consent form, which was not from the University of Washington, said no results would be returned, the investigators never told them, arguing that their hands were tied. The researchers said an ethics board — not they — made the rules.
她当时正研究一些与乳腺癌无关的基因，但项目研究者发现来自某一个家族的多位成员具有乳腺癌基因。可参与者已经签署了不能得知研究结果的同意书（文件并非华盛顿大学签发），研究者于是对结果保持了缄默，声称对此无能为力。他们说，立废规定的权利在伦理委员会手上，他们没有。
Dr. Jarvik argued that they should have tried to persuade the ethics board. But, she said, “I did not hold sway.”
亚尔维克博士说他们那时候本应试图说服伦理委员会。但她又说：“这件事不是我一个人说了算的。”
Such ethical quandaries grow more immediate year by year as genome sequencing gets cheaper and easier. More studies include gene sequencing and look at the entire genome instead of just one or two genes. Yet while some findings are clear-cut — a gene for colon cancer, for example, will greatly increase the disease risk in anyone who inherits it — more often the significance of a genetic change is not so clear. Or, even if it is, there is nothing to be done.
随着基因测序技术逐年发展，变得更加经济和便捷，道德上的两难境地也变得愈发紧急和明显。现在更多的基因测序研究已不再是盯着一两个基因看，而是要纵观整个基因组。尽管有时候结果一目了然：比如遗传了结肠癌基因的人患结肠癌的风险比常人高得多，但更多情况是人们看不出一段基因的改变会造成什么明确的后果。或者是即使看出来了，也没办法解决。
Researchers are divided on what counts as an important finding. Some say it has to suggest prevention or treatment. Others say it can suggest a clinical trial or an experimental drug. Then there is the question of what to do if the genetic findings only sometimes lead to bad outcomes and there is nothing to do to prevent them.
究竟什么才算是重大发现，科学家们各执一词。有的说研究结果必须能为预防或治疗提供线索才称得上重要；有的说要能引导出临床试验或者试验性药物才行。那么，当基因显示了一个糟糕却又无法阻止的后果时，研究者该怎么做？
“If you are a Ph.D. in a lab in Oklahoma and think you made a discovery using a sample from 15 years ago from a subject in California, what exactly are you supposed to do with that?” asked Dr. Robert C. Green, an associate professor of medicine at Harvard. “Are you supposed to somehow track the sample back?”
“如果你是俄克拉荷马州某个实验室里的博士研究生，在一位加州志愿者15年前提供的样本里有所发现，你应当怎么做？”哈佛大学医学副教授罗伯特·C·格林(Robert C. Green)问道：“你会回头找那个志愿者吗？”