A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
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DOI：
10.1186/s13023-020-01493-7
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发表时间：
2020-08-12
影响因子：
3.7
通讯作者：
Bonne, Gisele
中科院分区：
文献类型：
--
作者：
Atalaia, Antonio;Thompson, Rachel;Bonne, Gisele
罕见病是个体罕见的疾病，但在全球范围内影响约6%的人口，超过70%的病例是由基因决定的。它们的罕见性意味着诊断延迟，25%的患者等待5至30年才能得到诊断。在诊断时，必须提高患者和临床医生对现有基因和变异特异性疗法的认识，以避免治疗延误加重罕见病患者及其家属的诊断过程。本文旨在提供指导，并给出详细说明如何编写罕见病治疗的同质系统评价的方式，允许捕获的结果在一个计算机可访问的形式。发布的结果需要符合FAIR科学数据管理和管理的指导原则，以促进数据集的提取，这些数据集可以轻松转换为机器可操作的信息。最终目的是在基因和变异水平上创建罕见疾病治疗（“Treatabolome”）数据库，作为H2020研究项目Solve-RD的一部分。结果每一个系统性综述遵循一个书面协议，以解决一个或多个罕见病，其中作者是专家。书目检索战略需要详细的文件，以便复制。应建立数据采集表，以便于填写数据采集电子表格，并记录对每个检索结果应用的入选和排除标准。需要一个PRISMA流程图来概述论文的检索和选择过程。一个单独的表格浓缩了系统综述期间收集的数据，并根据其证据等级进行了评价。结论本文提供了一个模板，其中包括编写符合FAIR的罕见病治疗系统评价的说明，该模板使Treatabolome数据库能够使用治疗意识数据补充现有的诊断和管理支持工具。
Background Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. It is essential to raise awareness of patients and clinicians of existing gene and variant-specific therapeutics at the time of diagnosis to avoid that treatment delays add up to the diagnostic odyssey of rare diseases' patients and their families. Aims This paper aims to provide guidance and give detailed instructions on how to write homogeneous systematic reviews of rare diseases' treatments in a manner that allows the capture of the results in a computer-accessible form. The published results need to comply with the FAIR guiding principles for scientific data management and stewardship to facilitate the extraction of datasets that are easily transposable into machine-actionable information. The ultimate purpose is the creation of a database of rare disease treatments ("Treatabolome") at gene and variant levels as part of the H2020 research project Solve-RD. Results Each systematic review follows a written protocol to address one or more rare diseases in which the authors are experts. The bibliographic search strategy requires detailed documentation to allow its replication. Data capture forms should be built to facilitate the filling of a data capture spreadsheet and to record the application of the inclusion and exclusion criteria to each search result. A PRISMA flowchart is required to provide an overview of the processes of search and selection of papers. A separate table condenses the data collected during the Systematic Review, appraised according to their level of evidence. Conclusions This paper provides a template that includes the instructions for writing FAIR-compliant systematic reviews of rare diseases' treatments that enables the assembly of a Treatabolome database that complement existing diagnostic and management support tools with treatment awareness data.