??新生儿基因测序这件事你怎么看？
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原题：whole-genome sequencing of newborn babies presents ethical quandaries?
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?imagine for a moment that your unborn child has a rare genetic disorder. not something at least vaguely familiar, such as sickle-cell anaemia or cystic fibrosis, but rather a condition buried deep within the medical dictionary. adrenoleukodys trophy, maybe. or ehlers-danlos syndrome.
假设你尚未出生的宝宝患有一种罕见的遗传病。这里的罕见，不是说像镰状细胞性贫血或囊性纤维化这样你多少听说过一点的疾病，而是一种深藏在医学词典角落里的疾病。比如肾上腺脑白质营养不良，或是埃勒斯-当洛综合征（又称全身弹力纤维发育异常症）。
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?would you, when your child is born, want to know about it? if effective treatments were available, you probably would. but if not? if the outcome were fatal, would your interest in knowing about it depend on whether your newborn had five years of life to look forward to, or ten? or 30?
当你的孩子出生时，你会想知道这件事吗？如果存在有效的治疗方法，你或许想知道。但如果没有呢？如果是致命的疾病，你想不想知道是否取决于你的宝宝能活五年还是十年？或是三十年？
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?today these questions are mostly hypothetical. precisely because they are rare, such disorders are seldom noticed at birth. they manifest themselves only gradually, and often with unpredictable severity. but that may soon change. twenty years after the first human genome was mapped, the price of whole-genome sequencing has fallen to a point where it could, in rich countries at least, be offered routinely to newborns. parents will then have to decide exactly how much they want to know.
现在，这些问题大多是假设性的。正因为很罕见，这些疾病在出生时很少会被注意到。它们只会逐渐显现，而且严重程度往往无法预测。但这可能很快就会改变了。在绘制出第一个人类基因组图谱的二十年后，全基因组测序的价格已经大大下降，至少在富裕国家已经可以作为常规服务提供给新生儿。这样一来，父母将不得不决定他们到底想知道多少。
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?early diagnosis brings with it the possibility of early treatment. moreover, sequencing the genomes of newborns could offer a lifetime of returns. a patient’s genome may reveal which drugs will work best in his or her particular case for conditions such as adhd, depression and cancer. combined with information about someone’s way of life, it could highlight easily discounted health risks such as cancers and cardiovascular disease, leading to better preventive measures. a database of genomes, matched to living people, would be a boon for medical research. the fruits of that research, in turn, would make those genomes more useful to their owners as time goes on.
有了早期诊断就有可能尽早治疗。此外，基因组测序可能让新生儿终生受益。一个人的基因组也许能揭示出哪些药物将最具针对性地治疗多动症、抑郁症或癌症等疾病在其身上的表现。结合患者的生活方式信息，它可以凸显容易被忽视的健康风险，如癌症和心血管疾病，从而采取更好的预防措施。一个与活人相匹配的基因组数据库将是医学研究的福音。反过来，随着时间的推移，这方面的研究成果会让这些基因组对其主人更有用处。
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?sequencing children’s genomes at birth would also create opportunities to develop treatments for rare conditions that are typically discovered too late and in small numbers. there are reckoned to be about 7,000 rare diseases in the world, affecting 400m people, and most are genetic. at the moment they are so unusual as to be unattractive targets for big pharmaceutical firms. with more and earlier diagnoses, that might change.
在儿童出生时就做基因组测序也能创造机会为罕见病研发疗法，这些疾病通常发现得太晚，而且数量很少。据估计，世界上大约有7000种罕见疾病，影响到四亿人，而且大多数是遗传性的。目前，它们因为太过罕见，对大型制药公司来说没有吸引力。如果有更多、更早期的诊断，这种
情形就有可能改变。
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?such a powerful new technology creates new dangers. widespread screening for thousands of potentially harmful genes may be counterproductive: some results may worry parents unnecessarily, because some genetic variations, though occasionally indicative of disease, are not strongly so. parents may not want to unlock all the secrets that their newborn’s genome might reveal. some may indeed prefer not to know about conditions that cannot be treated. adult-onset illnesses pose a different dilemma—a reasonable position is that it should be up to the children themselves, once grown, to decide whether they want to look at their genomic information. a further concern is that data will not be kept secure, and may be leaked or otherwise misused at some point in the future.
这一强大的新技术带来了新的危险。广泛筛查成千上万可能有害的基因也许会适得其反：一些结果可能会引发父母不必要的担心，因为一些基因变异虽然偶尔会是疾病的预示，却并不是可靠的指标。父母也许不想解开他们新生儿的基因组可能包含的所有秘密。有些人可能的确宁愿不知道孩子患有治不了的病。那些到成年才会发作的疾病则导致了另一个困境——一种合情理的观点是应该等孩子长大后自己决定要不要查看自己的基因组信息。另一个担忧是数据得不到安全保护，可能在未来的某个时刻被泄露或滥用。
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?in britain, where a large project to sequence the genomes of newborn babies is planned to start next year, a consultation process is already grappling with these questions. some of the broad principles emerging may be applied to similar projects in a number of other european countries, and in america, australia, china and qatar. one lesson is to start conservatively. the british project is likely to begin with a small number of extremely reliable tests that will improve the way children are treated. this ensures the testing is for the benefit of the child. tests that are not firmly diagnostic, or which involve much follow-up work, are not a priority. control of the data should be passed on to children at adulthood. finding the time to educate parents, so they can make good decisions, is essential.
英国计划于明年启动一个大型新生儿基因组测序项目，已经在就这些难题展开磋商。其中浮现的一些总体原则可能适用于在其他一些欧洲国家，以及美国、澳大利亚、中国和卡塔尔开展的类似项目。第一条经验是开始时要谨慎一些。英国的项目很可能从少量非常可靠的、能切实改善对儿童的治疗的测试开始。这么做确保了测试会对孩子有益。一些无法明确诊断或是涉及很多后续工作的测试，都不会被优先考虑。所获数据的控制权应在孩子成年后交给他们自己。要花时间来教育父母，让他们能做出正确的决定，这至关重要。
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?it remains to be seen whether the economics of this sort of testing make it feasible on a national scale. these days the cost has less to do with the technical expense of sequencing than with the salaries of those providing the services. but countries that can make this work will be able to start to harness the full potential of the genomic revolution. it began 20 years ago. soon, it will become part of everyday health care.
这种测试在经济上是否适合在全国范围内推行还有待观察。如今，主要成本已不是测序技术费用本身，而是测序工作人员的工资。但是，能够开展这项工作的国家就能开始发掘基因组革命的全部潜能。这场革命在二十年前就开始了。很快，它会成为日常医疗保健的一部分。
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?—— the economist
?文章来源：《经济学人》????????