Institute for Genome Sciences & Policy, Duke University, Durham, North Carolina 27708-1009, USA.
Mol Diagn Ther. 2010 Apr 1;14(2):67-72. doi: 10.2165/11534710-000000000-00000.
Access to one's own complete genome was unheard of just a few years ago. At present we have a smattering of identifiable complete human genomes, but the coming months and years will undoubtedly bring thousands more. What will this mean for the practice of medicine in the US? No one knows, but given the remarkable drop in the cost of DNA sequencing over the last few years, it seems a safe bet that within the next decade, primary care physicians will order patients' whole genome sequences with no more fanfare than they would a complete blood count. But the challenges of transforming that easily accessible information into cost savings and better health outcomes will be daunting. Obviously, we lack interpretive abilities and phenotypic information commensurate with our skill in amassing DNA sequences. Worse, we have exacerbated these problems by failing to embrace the increasing ubiquity of genomic information, the populace's interest in it, and its relevance to virtually every medical specialty. The success of personal genomics will require a profound cultural shift by every entity with a stake in human health.
几年前，人们还无法获得自己完整的基因组。而如今，我们已经有了一些可以识别的完整人类基因组，但在未来的几个月甚至几年里，无疑会有更多的基因组出现。这将对美国的医学实践意味着什么？目前还无人知晓，但鉴于过去几年 DNA 测序成本的显著下降，人们有理由相信，在未来十年内，初级保健医生将像开全血细胞计数一样为患者订购全基因组序列，而不会引起太多轰动。但是，将这些易于获取的信息转化为成本节约和更好的健康结果的挑战将是巨大的。显然，我们缺乏与积累 DNA 序列能力相匹配的解释能力和表型信息。更糟糕的是，我们未能接受基因组信息的日益普及、公众对它的兴趣以及它与几乎所有医学专业的相关性，从而使这些问题更加严重。个人基因组学的成功需要与人类健康息息相关的每一个实体都进行深刻的文化转变。
