Department of Genomic Health, Geisinger Health Systems, Danville, PA 17822, United States.
Department of Biomedical Informatics, University of Utah, Salt Lake City, UT 84108, United States.
J Am Med Inform Assoc. 2024 Apr 19;31(5):1183-1194. doi: 10.1093/jamia/ocae033.
Patient care using genetics presents complex challenges. Clinical decision support (CDS) tools are a potential solution because they provide patient-specific risk assessments and/or recommendations at the point of care. This systematic review evaluated the literature on CDS systems which have been implemented to support genetically guided precision medicine (GPM).
A comprehensive search was conducted in MEDLINE and Embase, encompassing January 1, 2011-March 14, 2023. The review included primary English peer-reviewed research articles studying humans, focused on the use of computers to guide clinical decision-making and delivering genetically guided, patient-specific assessments, and/or recommendations to healthcare providers and/or patients.
The search yielded 3832 unique articles. After screening, 41 articles were identified that met the inclusion criteria. Alerts and reminders were the most common form of CDS used. About 27 systems were integrated with the electronic health record; 2 of those used standards-based approaches for genomic data transfer. Three studies used a framework to analyze the implementation strategy.
Findings include limited use of standards-based approaches for genomic data transfer, system evaluations that do not employ formal frameworks, and inconsistencies in the methodologies used to assess genetic CDS systems and their impact on patient outcomes.
We recommend that future research on CDS system implementation for genetically GPM should focus on implementing more CDS systems, utilization of standards-based approaches, user-centered design, exploration of alternative forms of CDS interventions, and use of formal frameworks to systematically evaluate genetic CDS systems and their effects on patient care.
利用遗传学进行患者护理带来了复杂的挑战。临床决策支持（CDS）工具是一种潜在的解决方案，因为它们可以在护理点提供针对患者的风险评估和/或建议。本系统评价评估了已经实施以支持基于遗传学的精准医学（GPM）的 CDS 系统的文献。
在 MEDLINE 和 Embase 中进行了全面搜索，涵盖 2011 年 1 月 1 日至 2023 年 3 月 14 日。该综述纳入了以人类为研究对象、专注于使用计算机指导临床决策并向医疗保健提供者和/或患者提供基于遗传学的、针对患者的评估和/或建议的英语同行评审原始研究文章。
搜索产生了 3832 篇独特的文章。经过筛选，确定了 41 篇符合纳入标准的文章。警报和提醒是最常见的 CDS 形式。大约 27 个系统与电子健康记录集成；其中 2 个使用了基于标准的方法进行基因组数据传输。有 3 项研究使用了框架来分析实施策略。
研究结果包括基于标准的基因组数据传输方法的使用有限、未采用正式框架的系统评估以及用于评估遗传 CDS 系统及其对患者结局影响的方法学的不一致性。
我们建议，未来关于基于遗传学的精准医学中 CDS 系统实施的研究应侧重于实施更多的 CDS 系统、使用基于标准的方法、以用户为中心的设计、探索替代形式的 CDS 干预措施，以及使用正式框架系统地评估遗传 CDS 系统及其对患者护理的影响。
