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经济学人

Personalised medicine

个性化医疗

Medicine is getting to grips with individuality

医疗越来越注重个性化

Their genes, environments and activities all make people different

基因、环境、活动都会使人存在差异



Neena nizar is 42 years old, a professor of business studies and just 122cm tall. The ends of her bones are soft and pliable: on an x-ray they look frayed, like old paintbrushes. During her childhood and adolescence in Dubai she was operated on 30 times. The source of her problem remained a mystery. In 2010, after three decades of wondering, she finally received a diagnosis: Jansen’s Metaphyseal Chondrodysplasia, a condition first recognised in the 1930s. Her problems stem from a broken copy of just one of her 20,000 genes.

妮娜·尼扎尔今年42岁,职业是商学教授,身高只有1米22。她的骨端柔软易弯:在X光照片中就像磨损了的旧画笔。在迪拜度过的童年和青少年时期,她曾做过30次手术,问题根源一直成谜。2010年,在迷惘了三十年后,她终于收到了诊断书:詹森型干骺端软骨发育不良,上个世纪30年代首次被公认的一种疾病。她的问题源于两万个基因中有一个基因的副本受损。

Dr Nizar is in some ways very unusual. Fewer than one in 200m people have the mutation to the PTH1R gene that causes Jansen’s disease. In other ways she is like everyone else. Although few people have a defect as debilitating, everyone’s health, and ill-health, is tied to the contents of their genomes. All genomes contain arrangements of genes that make psychological disorders, cancers, dementias or circulatory diseases either more of a problem or less of one. Everyone has genes that make them better or worse at metabolising drugs, more or less likely to benefit from specific forms of exercise, better able to digest some foods than others.

尼扎尔博士在某些方面十分特殊。詹森病是由于PTH1R基因突变所致,发生几率不到两亿分之一。在其他方面,她与别人没什么不同。很少有人会有身体虚弱的基因缺陷,但每个人的健康与疾病都与基因组的构成有关。所有的基因组都包含能导致心理障碍、癌症、痴呆、循环系统疾病的基因排列,只是有轻重之分。每个人的基因决定着是否擅长代谢药物,或多或少可能受益于特定的运动形式,消化某种食物的能力比别人更强。



Nobody knows exactly how many human genomes have been fully sequenced, and different sequencing procedures read the genome to different degrees—there are quick skims and painstaking philological studies. But the number is in the millions (see chart). By the 2030s genome sequencing is likely to be as routine in some places as taking a pin-prick of blood from a baby’s heel is today—it may even be part of the same procedure. Genome science is becoming a matter of practical medicine. New therapies that make it possible to adjust or edit this genetic inheritance are coming to market.

没有人知道究竟有多少人类基因组被完整测序过,不同的测序流程解读基因组的程度不同——这方面既有简报,也有细心的文献研究,但被测序过的基因组多达上千万。预计到本世纪30年代,某些国家的基因测序会像当今针刺采集婴儿的足跟血一样普遍——甚至可能采取同一测序流程。基因科学正在成为一门实用医学,新疗法即将走向市场,使调整或编辑基因遗传成为可能。

This flood of data is allowing medicine to become more precise and more personal—in many ways, the p-words are two sides of the same coin. Previously recognised genetic diseases, such as Jansen’s, have been traced to specific genes and can be connected to defects in the proteins they create (almost all genes describe proteins, and proteins do almost all the body’s chemical work). Most of these diseases are rare, in that they typically affect no more than one person in 2,000 in the general population. But with over 6,000 such rare diseases now recognised, this means they are common in the aggregate. In Britain one in 17 people can expect to suffer from a rare disease at some point.

海量数据正在使医疗变得更加精准,更具个性化——在许多方面,精准和个性化密不可分。过去公认的遗传病是由于特定基因所致,例如詹森病,可能与有缺陷的蛋白质产物有关(几乎所有基因表达的产物都是蛋白质,蛋白质参与人体几乎所有的化学反应)。多数遗传病是罕见的,在普通人群中,发病率一般不超过两千分之一。但目前公认的遗传病有6000多种,这意味着在总体上是普遍的。在英国,每17个人当中就有1个人可能在某个时候患上罕见疾病。

Studies of genetic diseases are not just a worthwhile end in themselves. Understanding what goes wrong when a specific protein is out of whack can reveal basic information about the body’s workings that may be helpful for treating other ailments. And the growing understanding of how large sets of genes may contribute to disease is making it possible to pick out the patients most at risk from common diseases like diabetes, heart conditions and cancer. That will help doctors personalise their interventions. In theory, the rise in access to personal genetic information allows individuals to better calculate these risks and to take pre-emptive action. In practice, so far, few people seem to do so.

遗传病研究的价值不仅在其本身,了解特定的蛋白质出现异常会导致什么问题,就能了解人体运行机制的基本信息,对治疗其他疾病可能也有所帮助。越来越多地了解大批基因是如何引发疾病的,就有可能筛选出风险最高的普通病患者,例如糖尿病、心脏病、癌症,有助于医生对患者进行个性化干预。理论上,获取更多的个人遗传信息能使个人更好地评估风险,采取预防措施。现实中,似乎很少有人这么做。

Genomics is not the only source of new personal-health data. Just as all genomes are unique, so are the lives that all those genome-carriers lead. The increase in other forms of data about individuals, whether in other molecular information from medical tests, electronic health records, or digital data recorded by cheap, ubiquitous sensors, makes what goes on in those lives ever easier to capture. The rise of artificial intelligence and cloud computing is making it possible to analyse this torrent of data.

基因组学并不是获取新的个人健康数据的唯一来源。正如所有的基因组都是独一无二的,基因组携带者过的生活也是如此。其他形式个人数据的增加,无论是体检获取的其他分子信息、电子健康档案,还是廉价普遍的传感器记录的数字信息,医生了解患者的生活状况变得越来越容易。人工智能和云计算的兴起使分析数据流成为可能。



Beyond this, the “move fast and break things” attitude common in tech companies sits uneasily with “first, do no harm”. And the untrammelled, unsupervised and unaccountable means of data accrual seen in other industries which have undergone digital transformations sits uneasily with concerns over medical privacy.

除此之外,科技企业普遍秉持“快速行动、打破局面”理念,这与“首先,不应造成伤害” 理念格格不入。在经历了数字化转型的其他行业看来,获取数据的方式不受限制、不受监管、不负责任,这与备受关注的医疗隐私格格不入。

The very nature of medicine, though, means that the future will not just be a matter of business goals, research cultures, technological prowess, wise practice and well-crafted regulations. It will also be subject to the driving interests of particular individuals in ways never seen before. The development of gene-based medical research in Britain was deeply affected by the short, difficult life of Ivan Cameron, whose father, David Cameron, did much to build up genomics when he was prime minister. Many of those working in this field are impelled by personal loss.

然而,就医疗本质而言,未来不仅需要商业目标、科研文化、技术实力、高明的实践、完善的法规,还将前所未有地取决于特定群体的驱动利益。英国的医学研究以基因为基础,其发展深受伊凡·卡梅伦那短暂而坎坷一生的影响,他的父亲大卫·卡梅伦在担任英国首相期间,大力推动基因组学的建设。该领域的许多工作者因为痛失亲人而化悲伤为动力。

And then there are those whose interests stem from the way in which their own genes shape their lives. People like Dr Nizar, who is now crafting a new research agenda for Jansen’s disease. There may only be 30 people in the world who suffer from it. But two of them are her children, and they are in ceaseless pain. Science knows why; medicine cannot yet help. “We believe in miracles,” she says. She is also working to make one happen.

还有些人的利益来自基因对自身生活的塑造。例如,尼扎尔博士正在为詹森病精心制定新的研究议程。全世界可能只有30人患有这种疾病,但其中两名是她的子女,承受着无尽的痛苦。科学知道原因,医疗还帮不上忙。“我们相信奇迹”,她说道。她正在努力实现这样的奇迹。