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第48章 leaked 泄露

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. 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.

对儿童出生时的基因组进行测序也将为开发治疗罕见疾病创造机会,这些疾病通常被发现得太晚,而且数量很少。据估计,世界上大约有7000种罕见疾病,影响到4亿人,而且大多数是遗传性的。目前,它们是如此不寻常,以至于对大型制药公司来说没有吸引力。随着更多和更早的诊断,这可能会改变。如此强大的新技术带来了新的危险。广泛筛查数以千计的潜在有害基因可能会适得其反:一些结果可能会让父母感到不必要的担心,因为一些基因变异虽然偶尔会显示出疾病,但并不强烈。父母可能不想揭开他们新生儿基因组可能揭示的所有秘密。有些人可能确实希望不知道那些无法治疗的疾病。成人发病的疾病带来了不同的困境--合理的立场是,一旦孩子长大,应该由他们自己决定是否要看他们的基因组信息。另一个担忧是,数据将不会得到安全保护,并可能在未来的某个时刻被泄露或以其他方式被滥用。

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.

在英国,一个大型的新生儿基因组测序项目计划于明年开始,一个咨询项目已经在努力解决这些问题。目前提出的一些广泛原则可能适用于其他一些欧洲国家,以及美国、澳大利亚、中国和卡塔尔的类似项目。一个教训是保守地开始。英国的项目很可能从少量极其可靠的测试开始,这些测试将改善儿童的治疗方式。这确保测试是为了儿童的利益。那些诊断性不强的测试,或涉及很多后续工作的测试,都不是优先考虑的。数据的控制权应在儿童成年后传给他们。找出时间来教育父母,使他们能够做出正确的决定,这是至关重要的。

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