Clinical exome sequencing reports: current informatics practice and future opportunities
Clinical exome sequencing reports: current informatics practice and future opportunities
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临床外显子组测序报告：当前信息学实践和未来机遇
DOI：
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Simon M. Lin
中科院分区：
文献类型：
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作者：
R. Swaminathan;Yungui Huang;C. Astbury;Sara M. Fitzgerald;Katherine Miller;Justin Cole;Christopher Bartlett;Simon M. Lin
临床全外显子组测序（WES）的日益普及提高了复杂遗传疾病患者的诊断率。然而，处理全外显子组报告中包含的信息的信息学实践仍处于起步阶段，这可以从基因实验室生成的临床测序报告中缺乏通用词汇来证明。基因检测结果大多采用便携式文件格式传输，这给二次分析和数据提取带来了挑战。本文回顾了临床实验室改进修正案认证的三级医疗机构基因检测实验室生成的临床外显子组报告样本，以评估和识别共同的数据元素。与结构化放射学报告一样，结构化临床WES报告中的遗传信息有助于将遗传信息集成到电子健康记录中，并能够对WES的临床应用进行回顾性研究，从而加快信息检索和重用速度。我们根据实践指南确定列出的强制性要素，但目前在一些临床报告中缺失，这可能有助于在结构化数据库中存储数据时组织数据。我们还强调了一些要素，如患者同意，尽管它们没有出现在当前的任何报告中，但可能有助于解释报告中的一些信息。整合遗传和临床信息将有助于采用个性化医疗，以改善患者的护理和结果。
The increased adoption of clinical whole exome sequencing (WES) has improved the diagnostic yield for patients with complex genetic conditions. However, the informatics practice for handling information contained in whole exome reports is still in its infancy, as evidenced by the lack of a common vocabulary within clinical sequencing reports generated across genetic laboratories. Genetic testing results are mostly transmitted using portable document format, which can make secondary analysis and data extraction challenging. This paper reviews a sample of clinical exome reports generated by Clinical Laboratory Improvement Amendments-certified genetic testing laboratories at tertiary-care facilities to assess and identify common data elements. Like structured radiology reports, which enable faster information retrieval and reuse, structuring genetic information within clinical WES reports would help facilitate integration of genetic information into electronic health records and enable retrospective research on the clinical utility of WES. We identify elements listed as mandatory according to practice guidelines but are currently missing from some of the clinical reports, which might help to organize the data when stored within structured databases. We also highlight elements, such as patient consent, that, although they do not appear within any of the current reports, may help in interpreting some of the information within the reports. Integrating genetic and clinical information would assist the adoption of personalized medicine for improved patient care and outcomes.
DOI：
10.1056/nejmoa1306555
发表时间：
2013-10-17
期刊：
The New England journal of medicine
影响因子：
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作者：
Yang Y;Muzny DM;Reid JG;Bainbridge MN;Willis A;Ward PA;Braxton A;Beuten J;Xia F;Niu Z;Hardison M;Person R;Bekheirnia MR;Leduc MS;Kirby A;Pham P;Scull J;Wang M;Ding Y;Plon SE;Lupski JR;Beaudet AL;Gibbs RA;Eng CM
通讯作者：
Eng CM