FHIR基因组学：助力精准医疗用例的标准化。
FHIR Genomics: enabling standardization for precision medicine use cases.
作者信息
Alterovitz Gil, Heale Bret, Jones James, Kreda David, Lin Fan, Liu Lei, Liu Xin, Mandl Kenneth D, Poloway David W, Ramoni Rachel, Wagner Alex, Warner Jeremy L
机构信息
1Computational Health Informatics Program, Boston Children's Hospital, Boston, MA USA.
2Harvard/MIT Division of Health Sciences and Technology, Harvard Medical School, Boston, MA USA.
出版信息
NPJ Genom Med. 2020 Mar 18;5:13. doi: 10.1038/s41525-020-0115-6. eCollection 2020.
The development of Fast Healthcare Interoperability Resources (FHIR) Genomics, a feasible and efficient method for exchanging complex clinical genomic data and interpretations, is described. FHIR Genomics is a subset of the emerging Health Level 7 FHIR standard and targets data from increasingly available technologies such as next-generation sequencing. Much care and integration of feedback have been taken to ease implementation, facilitate wide-scale interoperability, and enable modern app development toward a complete precision medicine standard. A new use case, the integration of the Variant Interpretation for Cancer Consortium (VICC) "meta-knowledgebase" into a third-party application, is described.
本文描述了快速医疗保健互操作性资源（FHIR）基因组学的发展，这是一种用于交换复杂临床基因组数据及解读的可行且高效的方法。FHIR基因组学是新兴的健康级别7（HL7）FHIR标准的一个子集，其目标是处理来自诸如新一代测序等日益普及的技术所产生的数据。为便于实施、促进大规模互操作性以及推动朝着完整的精准医学标准进行现代应用程序开发，已进行了大量细致的工作并整合了反馈意见。本文还描述了一个新的用例，即将癌症联盟变异解读（VICC）“元知识库”集成到第三方应用程序中。
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