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分子病理学报告的细节

The ins and outs of molecular pathology reporting.

作者信息

Tack Véronique, Dufraing Kelly, Deans Zandra C, van Krieken Han J, Dequeker Elisabeth M C

机构信息

Biomedical Quality Assurance Research Unit, Department of Public Health and Primary Care, KU Leuven, Kapucijnenvoer 35 Blok D, 3000, Leuven, Belgium.

Department of Laboratory Medicine, UK NEQAS for Molecular Genetics, UK NEQAS Edinburgh, The Royal Infirmary of Edinburgh, Edinburgh, UK.

出版信息

Virchows Arch. 2017 Aug;471(2):199-207. doi: 10.1007/s00428-017-2108-0. Epub 2017 Mar 26.

Abstract

The raid evolution in molecular pathology resulting in an increasing complexity requires careful reporting. The need for standardisation is clearer than ever. While synoptic reporting was first used for reporting hereditary genetic diseases, it is becoming more frequent in pathology, especially molecular pathology reports too. The narrative approach is no longer feasible with the growing amount of essential data present on the report, although narrative components are still necessary for interpretation in molecular pathology. On the way towards standardisation of reports, guidelines can be a helpful tool. There are several guidelines that focus on reporting in the field of hereditary diseases, but it is not always feasible to extrapolate these to the reporting of somatic variants in molecular pathology. The rise of multi-gene testing causes challenges for the laboratories. In order to provide a continuous optimisation of the laboratory testing process, including reporting, external quality assessment is essential and has already proven to improve the quality of reports. In general, a clear and concise report for molecular pathology can be created by including elements deemed important by different guidelines, adapting the report to the process flows of the laboratory and integrating the report with the laboratory information management system and the patient record.

摘要

分子病理学领域的快速发展导致复杂性不断增加,这就需要谨慎报告。标准化的需求比以往任何时候都更加明确。虽然概要报告最初用于报告遗传性疾病,但在病理学中越来越常见,尤其是在分子病理学报告中也是如此。随着报告中关键数据量的不断增加,叙述性方法已不再可行,尽管在分子病理学解释中叙述性内容仍然是必要的。在报告标准化的道路上,指南可能是一个有用的工具。有几项指南侧重于遗传性疾病领域的报告,但将这些指南外推到分子病理学中体细胞变异的报告并不总是可行的。多基因检测的兴起给实验室带来了挑战。为了持续优化实验室检测过程,包括报告,外部质量评估至关重要,并且已经证明可以提高报告质量。一般来说,通过纳入不同指南认为重要的要素、使报告适应实验室的流程以及将报告与实验室信息管理系统和患者记录整合,可以创建一份清晰简洁的分子病理学报告。

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