有史以来最大规模测序计划——两百万人测序项目：阿斯利康推出大规模测序计划用于辅助药物筛选和精准医疗
作为世界上最大的制药集团之一，阿斯利康（AstraZeneca）推出了大规模测序项目，该项目计划在未来十年进行两百万人的基因组测序并为之建立健康档案。阿斯利康及其合作者希望通过这样的大规模测序项目揭示与疾病和响应治疗相关的稀有序列。
“如此大规模的测序项目是这个研究领域前所未有的。”阿斯利康个体医疗和生物标志物部门副总裁说“这是非常必要的，因为我们将要寻找个体间非常细微而又稀少的差异。”
为了完成这个项目，阿斯利康将与包括英国伦敦的惠康基金会桑格研究所、芬兰赫尔辛基的分子医学研究所、基因组领域的带头人克雷格*文特尔在美国加利福尼亚的人类寿命（Human Longevity）生物技术公司开展合作。同时阿斯利康还计划从参与公司临床试验的参与者中选取500,000人进行基因组测序。
通过该测序项目，阿斯利康将很快成为遗传学研究领域的一个主要力量。多年来，遗传学家一直在寻找人群中与诸如糖尿病、心脏病等疾病相关的共有变异。这些研究给予大家一些重要的认识，然而这些研究中发现的共有变异往往只能从遗传水平解释一小部分个体疾病。
“研究者们逐渐开始关注不常见的遗传突变对疾病的贡献。联合分析这些突变是使我们掌握个体特质的关键。”文特尔如是说。
阿斯利康目前没有公布该测序项目的具体花费——“数十亿美金”这是阿斯利康革新药物计划执行副总裁Menelas Pangalos透露的唯一信息。三月份他在公开场合表示公司将利用这些测序数据指导药物研发部门从糖尿病到炎症和癌症的所有主要疾病领域的药物开发。
“基因组学家多年前就曾表示他们的研究领域将会对药物开发产生革命性的影响。”阿斯利康顾问，哥伦比亚大学遗传学家David Goldstein说“我们终于站在了这个历史性时刻，基因组学将开始成为药物开发的基础。”
编者按：随着精准医疗的逐步推进，个体的基因组测序将逐渐走进普通人中。个体化的基因组分析和以基因组分析为基础的健康档案将成为精准医疗时代的基础。依据大规模的个体基因组分析分类，再依据不同类别病人开发相应的治疗手段和药物最终实现精准医疗的目标。在这一过程中大的跨国药企又一次走在了时代的前沿。
参考文献： Drug firm seeks genome bounty 【nature】
One of the world’s largest pharmaceutical companies has launched a massive effort to compile genome sequences and health records from two million people over the next decade. In doing so, AstraZeneca and its collaborators hope to unearth rare genetic sequences that are associated with disease and with responses to treatment.
It’s an unprecedented number of participants for this type of study, says Ruth March, vice-president and head of personalized health care and biomarkers at AstraZeneca, which is headquartered in London. “That’s necessary because we’re going to be looking for very rare differences among individuals.”
To achieve that, AstraZeneca will partner with institutions including the Wellcome Trust Sanger Institute in Hinxton, UK, the Institute for Molecular Medicine Finland in Helsinki and Human Longevity, a biotechnology company founded in San Diego, California, by genomics pioneer Craig Venter. AstraZeneca also expects to draw on data from 500,000 participants in its own clinical trials.
In doing so, AstraZeneca will be following a burgeoning trend in genetics research. For years, geneticists pursued common variations in human DNA sequences that are linked to complex diseases such as diabetes and heart disease. The approach yielded some important insights, but these common variations often accounted for only a small percentage of the genetic contribution to individual diseases.
Researchers are now increasingly focusing on the contribution of unusual genetic variants to disease. Combinations of these variants can hold the key to an individual’s traits, says Venter.
AstraZeneca did not disclose exactly how much it would be investing — “hundreds of millions of dollars” over the course of ten years was all that Menelas Pangalos, executive vice-president of the company’s innovative medicines programme, would say. The company intends to use the data to inform drug development in all of its major disease areas, from diabetes to inflammation and cancer, says March.
Genomicists have long promised that their field would revolutionize drug development, says David Goldstein, a geneticist at Columbia University in New York City who advises Astra- Zeneca. Now, he says, “we finally have really turned a corner and genomics really will now become central in drug development”.
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