Shabo Amnon
IBM Research Lab in Haifa, Haifa 31905, Israel.
Per Med. 2005 Aug;2(3):251-258. doi: 10.2217/17410541.2.3.251.
The emerging concept of an electronic health record (EHR) targeted at a patient centric, cross-institutional and longitudinal information entity (possibly spanning the individuals lifetime) has great promise for personalized medicine. In fact, it is probably the only vehicle through which we may truly realize the personalization of medicine beyond population-based genetic profiles that are expected to become part of medication and treatment indications in the near future. The new EHR standards include mechanisms that integrate clinical data with genomic testing results obtained through applying research-type procedures, such as full DNA sequencing, to an individual patient. Although the most optimal process for the utilization of integrated clinical-genomic data in the EHR framework is still unclear, the new Health Level Seven (HL7) Clinical Genomics Draft Standard for Trial Use suggests using the 'encapsulate & bubble-up' approach, which includes two main phases: the encapsulation of raw genomic data and bubbling-up the most clinically significant portions of that data, while associating it with clinical phenotypes residing in the individual's EHR.
以患者为中心、跨机构且具有纵向性(可能涵盖个人一生)的电子健康记录(EHR)这一新兴概念,对个性化医疗有着巨大的前景。事实上,它可能是我们真正实现超越基于人群的基因图谱的医学个性化的唯一途径,而预计在不久的将来,基于人群的基因图谱将成为药物治疗和治疗指征的一部分。新的EHR标准包括将临床数据与通过对个体患者应用研究型程序(如全DNA测序)获得的基因组检测结果进行整合的机制。虽然在EHR框架中利用整合的临床基因组数据的最佳流程仍不明确,但新的健康级别七(HL7)临床基因组学试用草案标准建议采用“封装与冒泡”方法,该方法包括两个主要阶段:原始基因组数据的封装以及将该数据中临床上最显著的部分冒泡显示,同时将其与个体EHR中的临床表型相关联。