Network Analysis for Directing Standardization Efforts in Genomics Using MEDLINE

Abstract Background: 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. Methods: 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) keyword-based network analysis, considering the characteristics of keyword clusters; 2) period analysis with six phases; 3) statistical analysis; 4) content analysis.Results: 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 (R2>.586) throughout the whole analysis period and phase-based statistical analysis showed significance only in Genetics terminology category (P=.039*) at phase 4.Conclusions: This study investigated, through the network and statistical analysis, trend shifts in relation to clinical genomics. The shifts offer a solid basis for standards development that shows where future standardization opportunities and gaps lie.