遗传学大牛George Church：老百姓为什么还没去做基因测序？

遗传学界的大牛George Church近日在《Nature》杂志上发表题为“Improving genome understanding”的文章。他很纳闷，尽管测序技术的成本在直线下降，且准确性提高，但为什么愿意去测序的人还是那么少。

Church在文中提到，我们不应该批判那些不对基因组信息采取行动的人，但我们也应该问问，我们是否提供了充分而平等的机会，让人们了解基因组信息的好处和风险。

Church领导的研究团队曾报名参加基因组学Archon X奖竞赛，并花了7年积极备战，但在今年8月，这一X奖突然取消，让他感到失望。尽管如此，他认为这也是个机会，能澄清有关基因组学的“问题和误解”。

首先，人们认为基因组测序很昂贵。事实上，测序成本在直线下降，从2003年的27亿美元到如今的不到1000美元。这个价格低于一台笔记本电脑，更是远远少于一台车。然而，人们不愿意为基因组测序买单，认为应由保险公司或政府来免费提供。对此，Church认为，通过避免不必要的诊断和治疗以及在医院里等候的时间，测序成本可在一生中收回。

其次，很多人认为基因组学不准确。在X奖取消时，X奖基金会宣称，没有一家公司能以竞赛所需的准确性对整个基因组测序。这一说法是否属实？Church提到，单体型定相（Haplotype phasing）的质量已从2007年的350 kb提高到如今的2,463 kb，且单点错误降低至1/10,000,000，这远远超出了X奖的目标。

也有人认为测序结果无法解释。但Church认为，即使是复杂的性状，它也包含了可鉴定并应用到临床上的元素。例如，身高和糖尿病的GWAS研究表明，大量常见的变异有着小的影响，但寻找罕见变异后发现改变生长激素和胰岛素的水平有着很大的影响。即使是未突变的个体，这些激素也是有效的治疗方法。此外，即使没有成熟的治疗手段，但有效的孕前和产前检查也会对家庭产生影响。

在文章的最后，Church谈道，对于我们这些处于基因组学尖端的人而言，必须同样努力地与公众对话。随着我们分享更多的遗传学，随着基因组学向精密医学发展，研究人员和公众都需要坦诚评估这些检测和治疗。“我们比以往任何时候都需要基因组学X奖。”

对于George Church的评论，有网友认为这恰恰反映了他（以及大多数院士）与一般民众的脱节。最近的一项民意调查显示，只有很少一部分人了解“基因组学”或“个性化医疗”。这还是源于某位知名演员切除乳腺的决定。事实上，要让大众接受基因组学，科学家们还有大量的工作要做。（转化医学网360zhyx.com）

原文检索：

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Improving genome understanding


Readers of Nature, we can assume, are bright and insatiably curious. So why have so few obtained and interpreted their own genome sequence? We should avoid being judgemental of people who practise genomic modesty or who choose not to act on genome information, but we should also ask if we are providing adequate and equal access to education about the benefits and risks of genome information.

For 7 years I led one of the teams registered to compete for the US$10-million Archon Genomics X Prize, and I was naturally disappointed by the abrupt cancellation of the competition in August. However, the confusion surrounding the X Prize does provide an occasion to reflect on the problems and misunderstandings in genomics. The first is that genomics is seen as expensive. In fact, sequencing costs have plummeted — from $2.7 billion for the first human genome in 2003 down to $1,000 today. That’s not much more than the cost of a decent laptop, and much less than a car. However, people are reluctant to pay to have their genome sequenced — many feel that health care should be provided for free by insurance or the government and, indeed, this is our not-that-distant goal, as there are many in our community who would not benefit from genome information if it were not free. However, for those today who can afford a genome sequence, we would argue that, overall, the cost of sequencing is expected to be recovered over a lifetime through the avoidance of unnecessary diagnostics and therapeutics and time spent in waiting rooms and hospitals.


来源：ebiotrade