Health Care: All About the Base

医疗保健：关于碱基的一切

 

New businesses eye the opportunities in managing genome data

新公司注目管理基因组数据的机遇

 

The project to understand the human genome has long promised to revolutionise the way that diseases are diagnosed, drugs are designed and even the way that medicine is practised. An ability to interpret human genetic information holds the promise of doing everything from predicting which drugs will work on a particular patient to identifying a person’s predisposition to develop diseases.

 

长久以来，解读人类基因组的计划都承诺会彻底改变疾病诊断、药物设计甚至行医的方式。如果有了解读人类基因信息的能力，从预测哪种药会对某位病人有效，到确定某人罹患疾病的可能性，这一切都有望成为可能。

 

Genomic information is already transforming some medical practices. Sequencing has changed the way that fetuses are screened for Down’s syndrome, from a risky invasive test to one where abnormalities in fetal DNA can be picked up from blood drawn from the mother. In time this sort of method will extend to other genetic disorders and other medical applications. One area of promise is treating some types of cancer. Using blood tests to detect genetic changes in tumours could allow doctors to discover more quickly when drugs are no longer effective. This is so promising that there is already speculation that performing such “liquid” biopsies could be a $11 billion business by 2022.

 

基因组信息已经改变了一些医疗实践。测序改进了筛检胎儿是否患有唐氏综合症的方法，使其从有风险的侵入性检查，变成通过母体血样就可检测出胎儿的DNA异常。今后这种方法也将扩展到其他遗传病和医疗应用，其中一个有希望的领域是治疗某些癌症。通过验血检测肿瘤的基因变化，药物失效时医生就能更早发现。前景如此光明，已经有人预测，到2022年这类“液体”活检可能会成为价值110亿美元的生意。

 

Realising the vast potential of genomic medicine is a commercial project as well as a scientific one. It relies on a small but growing group of companies that are vying to produce data more cheaply, analyse them more quickly, store them securely and then to translate them all into useful information.

 

实现基因组疗法的巨大潜力既是商业项目也是科学项目。它能依赖的公司很少，但数目却在不断增加。这些公司竞相用更便宜的方法得出数据，更快地进行分析，更安全地存储并且将其全部转化成有用的信息。

 

These tasks have proved harder than expected. As genome data have started to be collected and sifted, nuggets of genetic gold are emerging. Yet creating and using this torrent of information is an endeavour of enormous scale and complexity. Each human genome comprises about a hundred gigabytes of data. The amount gathered is doubling every seven months; by 2025 it could require more storage capacity than for every YouTube video on the planet, or for all the information astronomers have drawn from the heavens.

 

事实证明这些任务比预想的更困难。随着人们开始采集并筛选基因组数据，基因金矿逐渐显露。然而，创建并使用这一信息洪流的工作规模宏大且极其复杂。每一套人类基因组数据都有约100吉字节，采集的总量每七个月增加一倍；到2025年它需要的存储空间比地球上所有的YouTube视频加起来还要多，也超过天文学家从太空获取的所有信息。

 

One firm in particular has been at the heart of this nascent genomic-data industry. Illumina, based in San Diego, is the main provider of the machines that sequence genetic information. Its dominance, and its role in reducing costs, has led to comparisons with Intel’s grip on chipmaking. It controls 70% of a market worth $3.3 billion in 2015, according to Research and Markets, a research firm. As its customers, now mainly researchers, expand to include medical practitioners, that market could grow to between $12 billion and $20 billion by 2020.

 

有家值得一提的公司位于这一新生的基因组数据行业的中心。位于加州圣迭戈的Illumina是基因信息测序仪器的主要供应商。它的统治地位以及在降低成本上起到的作用堪比Intel对芯片制造的掌控。根据市场调查公司“研究与市场”（Research and Markets）的数据，2015年在这一价值33亿美元的市场中，Illumina占据了70%的份额。目前它的客户主要是研究人员，随着客户范围向医疗从业人员扩展，到2020年这一市场可能会增至120亿到200亿美元之间。

 

Illumina’s continued dominance is by no means assured. Pacific Biosciences, based in Menlo Park, California, has developed a machine that does a similar job. It is selling well because it is better at some jobs than Illumina’s machines. Thermo Fisher, of Waltham, Massachusetts, is another rival; its machine should appeal to clinics because it is easier to operate and more efficient at targeting those sequences that are likely to be of most interest.

 

但并没有什么能够保证Illumina会继续统领市场。位于加州门洛帕克（Menlo Park）的太平洋生物科学（Pacific Biosciences）也研发出一款类似用途的仪器。这款仪器在某些任务上完成得比Illumina更好，因此十分畅销。Illumina的另一个竞争对手是马萨诸塞州沃尔瑟姆（Waltham）的赛默飞世尔（Thermo Fisher）。该公司的仪器应该会更受诊所青睐，因为它操作更简单，而且能更有效地瞄准那些人们可能最感兴趣的序列。

 

New technologies threaten both Illumina and its current competitors. Oxford Nanopore, a small British company, has pioneered a new method of sequencing. It passes DNA through tiny holes, whose changing electrical resistance is recorded as different molecular “letters”, or bases, pass by. Existing methods tag the four letters of DNA with a different marker and then read the sequence of tags.

 

新技术对Illumina和它目前的竞争对手都构成了威胁。英国一家小公司“牛津微孔”（Oxford Nanopore）开创出一种新的测序方法。它让DNA通过微小的孔，当不同的分子“字母”或碱基通过时，微孔电阻的变化便会被记录下来。现有的方法是给DNA的四个字母标上不同标志，然后读出标签的顺序。

 

Once sequenced, genetic data are the raw materials for other business ventures. One flourishing area of activity lies in making sense of it all. Craig Venter, a pioneer of genomics and boss of Human Longevity Inc (HLI), also in San Diego, is assembling the largest and most comprehensive database of genomic and clinical data in order to hunt through it for targets for new drugs.

 

一旦被测序，基因数据就成为了其他商业公司的原材料。弄懂所有这些数据便成为了一个蓬勃发展的活动领域。克雷格·文特尔（Craig Venter）是基因组学的先驱，也是同样位于圣迭戈的人类寿命公司（Human Longevity Inc，HLI）的老板。他正在整合最大最全的基因组和临床数据的数据库，希望通过这一数据库寻找新药的靶标。

 

Understanding the genetic basis of a disease or disorder can be critical in identifying therapies that will fix these problems. With this in mind HLI recently signed a ten-year deal reportedly worth hundreds of millions of dollars with AstraZeneca, a British drug company, to sequence half a million genomes. The potential to find targets for drugs is such that Mr Venter thinks HLI might one day transform itself into a pharmaceutical company.

 

了解一种疾病或紊乱的基因基础对于确定解决这些问题的疗法来说至关重要。基于这一点，HLI最近和英国制药公司阿斯利康（AstraZeneca）签下一份为五十万基因组测序的十年协议，据报道价值数亿美元。为新药寻找靶标潜力巨大，因此文特尔认为HLI可能有一天会转型成为制药公司。

 

The race to identify promising targets is likely to encourage more of these partnerships as drugmakers try to get their hands on data that will help them improve their drug pipelines. Indeed, in another deal ten companies, including AbbVie, Biogen, Roche, Takeda and GSK, have partnered with Genomics England, a company set up by the British government to sequence the genomes of 100,000 patients.

 

制药公司竞相为药物找寻有希望的靶标，这可能会促成更多这样的合作，因为制药厂想要拿到数据，帮它们改善药品的研发储备。确实，在另一个交易中，包括艾伯维（AbbVie）、百健（Biogen）、罗氏（Roche）、武田（Takeda）和葛兰素史克（GSK）等在内的十家公司，都与一家名为Genomics England的公司建立了伙伴关系。该公司由英国政府成立，为十万名患者的基因组测序。

 

As genetic testing becomes ever cheaper, it will open up new opportunities. Invitae, based in San Francisco, is already trying to set itself up as the Amazon of genome sequencing by making the process of ordering medical-grade tests so easy and cheap that testing for genetically inherited diseases becomes as simple as ordering books online. Other applications stretch beyond medicine. Genome sequencing could be used to check if food is safe to eat, for example, or to clamp down on the illegal trade in wildlife or to monitor the spread of antibiotic resistance.

 

基因测试越来越便宜，这也带来了新的机遇。位于旧金山的Invitae已经在试图将自身打造成基因组测序界的亚马逊，它让订购医学级测试的流程变得非常简单便宜，使得测试基因遗传疾病就像网上买书一样便捷。基因测试在医学范畴之外也有广泛的应用。例如，基因组测序可以用来检查食物能否安全食用，也可以用来打击野生动物非法贸易，或者用来监控抗生素耐药性的蔓延情况。

 

But profits are not guaranteed to flow quickly. Health-care providers and governments are an obvious source of sales, but they are notoriously slow to spend their money on new forms of testing. And the business of direct-to-consumer genetic testing relies on convincing individuals that such tests are worthwhile and regulators that they are safe and accurate. Genomics has long blended huge promise and practical difficulties. That won’t change.

 

但是利润不一定会很快增长。医疗保健提供商和政府无疑是大买家，不过在花钱采购新型测试上，它们也是出了名地迟缓。如要开展直接面向消费者的基因测试生意，需要说服个人相信这样的测试值得做，并且让监管者确信这些测试安全又准确。一直以来基因组学都有着无限光明的前景，然而实际操作起来却又困难重重。这一点将来也不会改变。

英文、中文版本下载：http://www.yingyushijie.com/shop/source/detail/id/482.html