Institute of Quantum Biophysics, Sungkyunkwan University, 16419, Seoul, Gyeonggi-do, Republic of Korea.
Department of Psychiatry, Research Institute for Medical Bigdata Science, Korea University Anam Hospital, Seoul, Republic of Korea.
BMC Med Res Methodol. 2022 Oct 7;22(1):263. doi: 10.1186/s12874-022-01740-4.
Biotechnology in genomics, such as sequencing devices and gene quantification software, has proliferated and been applied to clinical settings. However, the lack of standards applicable to it poses practical problems in interoperability and reusability of the technology across various application domains. This study aims to visualize and identify the standard trends in clinical genomics and to suggest areas on which standardization efforts must focus.
Of 16,538 articles retrieved from PubMed, published from 1975 to 2020, using search keywords "genomics and standard" and "clinical genomic sequence and standard", terms were extracted from the abstracts and titles of 15,855 articles. Our analysis includes (1) network analysis of full phases (2) period analysis with five phases; (3) statistical analysis; (4) content analysis.
Our research trend showed an increasing trend from 2003, years marked by the completion of the human genome project (2003). The content analysis showed that keywords related to such concepts as gene types for analysis, and analysis techniques were increased in phase 3 when US-FDA first approved the next-generation sequencer. During 2017-2019, oncology-relevant terms were clustered and contributed to the increasing trend in phase 4 of the content analysis. In the statistical analysis, all the categories showed high regression values (R > 0.586) throughout the whole analysis period and phase-based statistical analysis showed significance only in the Genetics terminology category (P = .039) at phase 4.
Through comprehensive trend analysis from our study, we provided the trend shifts and high-demand items in standardization for clinical genetics.
生物技术在基因组学领域的应用日益普及，例如测序设备和基因定量软件，已经广泛应用于临床环境。然而，缺乏适用于该领域的标准，给技术在不同应用领域的互操作性和可重用性带来了实际问题。本研究旨在可视化和识别临床基因组学中的标准趋势，并提出标准化工作必须关注的领域。
从 PubMed 中检索到 1975 年至 2020 年发表的 16538 篇文章，使用搜索关键词“基因组学和标准”和“临床基因组序列和标准”，从 15855 篇文章的摘要和标题中提取术语。我们的分析包括：（1）全阶段网络分析；（2）分五个阶段的阶段分析；（3）统计分析；（4）内容分析。
我们的研究趋势显示，从 2003 年开始呈上升趋势，这一年标志着人类基因组计划的完成（2003 年）。内容分析表明，在第三阶段，当美国食品和药物管理局首次批准下一代测序仪时，与基因类型分析和分析技术相关的关键词有所增加。在 2017 年至 2019 年期间，与肿瘤学相关的术语聚类在一起，为内容分析第四阶段的趋势上升做出了贡献。在统计分析中，整个分析期间和基于阶段的统计分析中，所有类别都表现出较高的回归值（R>0.586），仅在第四阶段的遗传学术语类别中表现出统计学意义（P=0.039）。
通过我们的研究进行全面的趋势分析，我们提供了临床遗传学标准化的趋势变化和高需求项目。
