ISO/TS 20428:2017 卫生信息学 数据元素及其元数据来描述结构化临床基因组序列信息的电子健康记录

标准编号：ISO/TS 20428:2017

中文名称：卫生信息学 数据元素及其元数据来描述结构化临床基因组序列信息的电子健康记录

英文名称：Health informatics — Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records

发布日期：2017-05

标准范围

ISO/TS 20428:2017定义了实施结构化临床基因组测序报告所需的数据元素及其元数据，以及电子健康记录中的元数据，尤其是下一代测序技术生成的基因组数据。ISO/TS 20428:2017-定义结构化临床测序报告的组成（见第5条），-定义结构化临床测序报告所需的数据字段及其元数据（见第6条），-定义可选数据（见第7条），-涵盖了使用全基因组测序、全外显子组测序和下一代测序技术的靶向测序（疾病靶向基因面板）从人类样本中获得的DNA水平变化。尽管全转录组测序和其他技术对于提供更好的患者护理和实现精确医学非常重要，但本文件仅涉及DNA水平的变化，-主要涵盖临床应用和临床研究，如临床试验和使用临床数据的转化研究。但是，应采取必要的措施，如取消身份认证或征得患者同意。基础研究和其他科学领域不在本文件范围内，-不包括其他生物物种，即病毒和微生物的基因组，以及-不包括Sanger测序方法。

ISO/TS 20428:2017 defines the data elements and their necessary metadata to implement a structured clinical genomic sequencing report and their metadata in electronic health records particularly focusing on the genomic data generated by next generation sequencing technology.ISO/TS 20428:2017- defines the composition of a structured clinical sequencing report (see Clause 5),- defines the required data fields and their metadata for a structured clinical sequencing report (see Clause 6),- defines the optional data (see Clause 7),- covers the DNA-level variation from human samples using whole genome sequencing, whole exome sequencing, and targeted sequencing (disease-targeted gene panels) by next generation sequencing technologies. Though whole transcriptome sequencing and other technologies are important to provide better patient care and enable precision medicine, this document only deals with DNA-level changes,- covers mainly clinical applications and clinical research such as clinical trials and translational research which uses clinical data. However, the necessary steps such as de-identification or consent from patient should be applied. The basic research and other scientific areas are outside the scope of this document,- does not cover the other biological species, i.e. genomes of viruses and microbes, and- does not cover the Sanger sequencing methods.

标准预览图