Haihua Chen , Ruochi Li , Ana Cleveland , Junhua Ding
{"title":"Enhancing data quality in medical concept normalization through large language models","authors":"Haihua Chen , Ruochi Li , Ana Cleveland , Junhua Ding","doi":"10.1016/j.jbi.2025.104812","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective:</h3><div>Medical concept normalization (MCN) aims to map informal medical terms to formal medical concepts, a critical task in building machine learning systems for medical applications. However, most existing studies on MCN primarily focus on models and algorithms, often overlooking the vital role of data quality. This research evaluates MCN performance across varying data quality scenarios and investigates how to leverage these evaluation results to enhance data quality, ultimately improving MCN performance through the use of large language models (LLMs). The effectiveness of the proposed approach is demonstrated through a case study.</div></div><div><h3>Methods:</h3><div>We begin by conducting a data quality evaluation of a dataset used for MCN. Based on these findings, we employ ChatGPT-based zero-shot prompting for data augmentation. The quality of the generated data is then assessed across the dimensions of correctness and comprehensiveness. A series of experiments is performed to analyze the impact of data quality on MCN model performance. These results guide us in implementing LLM-based few-shot prompting to further enhance data quality and improve model performance.</div></div><div><h3>Results:</h3><div>Duplication of data items within a dataset can lead to inaccurate evaluation results. Data augmentation techniques such as zero-shot and few-shot learning with ChatGPT can introduce duplicated data items, particularly those in the mean region of a dataset’s distribution. As such, data augmentation strategies must be carefully designed, incorporating context information and training data to avoid these issues. Additionally, we found that including augmented data in the testing set is necessary to fairly evaluate the effectiveness of data augmentation strategies.</div></div><div><h3>Conclusion:</h3><div>While LLMs can generate high-quality data for MCN, the success of data augmentation depends heavily on the strategy employed. Our study found that few-shot learning, with prompts that incorporate appropriate context and a small, representative set of original data, is an effective approach. The methods developed in this research, including the data quality evaluation framework, LLM-based data augmentation strategies, and procedures for data quality enhancement, provide valuable insights for data augmentation and evaluation in similar deep learning applications.</div></div><div><h3>Availability:</h3><div><span><span>https://github.com/RichardLRC/mcn-data-quality-llm/tree/main/evaluation</span><svg><path></path></svg></span></div></div>","PeriodicalId":15263,"journal":{"name":"Journal of Biomedical Informatics","volume":"165 ","pages":"Article 104812"},"PeriodicalIF":4.0000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Biomedical Informatics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1532046425000413","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS","Score":null,"Total":0}
引用次数: 0
Abstract
Objective:
Medical concept normalization (MCN) aims to map informal medical terms to formal medical concepts, a critical task in building machine learning systems for medical applications. However, most existing studies on MCN primarily focus on models and algorithms, often overlooking the vital role of data quality. This research evaluates MCN performance across varying data quality scenarios and investigates how to leverage these evaluation results to enhance data quality, ultimately improving MCN performance through the use of large language models (LLMs). The effectiveness of the proposed approach is demonstrated through a case study.
Methods:
We begin by conducting a data quality evaluation of a dataset used for MCN. Based on these findings, we employ ChatGPT-based zero-shot prompting for data augmentation. The quality of the generated data is then assessed across the dimensions of correctness and comprehensiveness. A series of experiments is performed to analyze the impact of data quality on MCN model performance. These results guide us in implementing LLM-based few-shot prompting to further enhance data quality and improve model performance.
Results:
Duplication of data items within a dataset can lead to inaccurate evaluation results. Data augmentation techniques such as zero-shot and few-shot learning with ChatGPT can introduce duplicated data items, particularly those in the mean region of a dataset’s distribution. As such, data augmentation strategies must be carefully designed, incorporating context information and training data to avoid these issues. Additionally, we found that including augmented data in the testing set is necessary to fairly evaluate the effectiveness of data augmentation strategies.
Conclusion:
While LLMs can generate high-quality data for MCN, the success of data augmentation depends heavily on the strategy employed. Our study found that few-shot learning, with prompts that incorporate appropriate context and a small, representative set of original data, is an effective approach. The methods developed in this research, including the data quality evaluation framework, LLM-based data augmentation strategies, and procedures for data quality enhancement, provide valuable insights for data augmentation and evaluation in similar deep learning applications.
期刊介绍:
The Journal of Biomedical Informatics reflects a commitment to high-quality original research papers, reviews, and commentaries in the area of biomedical informatics methodology. Although we publish articles motivated by applications in the biomedical sciences (for example, clinical medicine, health care, population health, and translational bioinformatics), the journal emphasizes reports of new methodologies and techniques that have general applicability and that form the basis for the evolving science of biomedical informatics. Articles on medical devices; evaluations of implemented systems (including clinical trials of information technologies); or papers that provide insight into a biological process, a specific disease, or treatment options would generally be more suitable for publication in other venues. Papers on applications of signal processing and image analysis are often more suitable for biomedical engineering journals or other informatics journals, although we do publish papers that emphasize the information management and knowledge representation/modeling issues that arise in the storage and use of biological signals and images. System descriptions are welcome if they illustrate and substantiate the underlying methodology that is the principal focus of the report and an effort is made to address the generalizability and/or range of application of that methodology. Note also that, given the international nature of JBI, papers that deal with specific languages other than English, or with country-specific health systems or approaches, are acceptable for JBI only if they offer generalizable lessons that are relevant to the broad JBI readership, regardless of their country, language, culture, or health system.