Society and Ethics Research Group, Connecting Science, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Faculty of Education, University of Cambridge, UK.
Hum Mol Genet. 2018 May 1;27(R1):R8-R13. doi: 10.1093/hmg/ddy084.
Genomic data offer a goldmine of information for understanding the contribution of genetic variation makes to health and disease. The potential of genomic medicine, to predict, diagnose, manage and treat genetic disease, is underpinned by accurate variant interpretation. This in itself hinges on the ability to access large and varied genomic databases. There is now recognition that international collaboration between research and healthcare systems are paramount to delivering the scale of genomic data required. No single research group, institute or country will liberate our understanding, it is only through global cooperation, together with super computing power, will we truly make sense of how genotype and phenotype correlate. Whilst it is logistically possible to create computing systems that talk to each other and aggregate datasets ready to reveal novel correlations, the bottom line is that this will only happen if people (whether they be scientists, clinicians, patients, research participants, policy makers, politicians, law makers) support the principle that we should be donating, accessing and sharing our DNA data in this way. And in order to make the most sense of genomics, given the geographical and ancestral variation between us, such people are likely to be the majority of society. Within this review, a perspective is proffered on the human story that underpins genomic 'big data' access and how we are at a tipping point as a society-we need to decide collectively, are we in? and if so, what needs to be in place to protect us? or are we out?
基因组数据为了解遗传变异对健康和疾病的贡献提供了丰富的信息。基因组医学具有预测、诊断、管理和治疗遗传疾病的潜力,其基础是准确的变异解释。这本身取决于获取大型和多样化基因组数据库的能力。现在人们认识到,研究和医疗保健系统之间的国际合作对于提供所需的基因组数据规模至关重要。没有任何一个研究小组、机构或国家能够独立完成我们的理解,只有通过全球合作以及超级计算能力,我们才能真正理解基因型和表型之间的相关性。虽然从逻辑上讲,可以创建相互通信的计算系统,并汇总数据集以揭示新的相关性,但底线是,如果人们(无论是科学家、临床医生、患者、研究参与者、政策制定者、政治家、立法者)支持我们应该以这种方式捐赠、访问和共享我们的 DNA 数据的原则,这才有可能实现。为了充分利用基因组学,考虑到我们之间的地理和祖先差异,这样的人可能是社会的大多数。在这篇综述中,提出了一个观点,即基因组“大数据”访问背后的人类故事,以及我们作为一个社会正处于一个转折点——我们需要集体决定,我们是否参与?如果是,需要采取什么措施来保护我们?还是我们不参与?