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弥合基因组学应用差距:确定精准肾脏病学的用户需求。

Bridging the Gap in Genomic Implementation: Identifying User Needs for Precision Nephrology.

作者信息

Kneifati-Hayek Jerard Z, Zachariah Teena, Ahn Wooin, Khan Atlas, Kiryluk Krzysztof, Mohan Sumit, Weng Chunhua, Gharavi Ali G, Nestor Jordan G

机构信息

Division of General Medicine, Department of Medicine, Columbia University, New York, USA.

Division of Nephrology, Department of Medicine, Columbia University, New York, USA.

出版信息

Kidney Int Rep. 2024 Jun 3;9(8):2420-2431. doi: 10.1016/j.ekir.2024.05.032. eCollection 2024 Aug.

Abstract

INTRODUCTION

Genomic medicine holds transformative potential for personalized nephrology care; however, its clinical integration poses challenges. Automated clinical decision support (CDS) systems in the electronic health record (EHR) offer a promising solution but have shown limited impact. This study aims to glean practical insights into nephrologists' challenges using genomic resources, informing precision nephrology decision support tools.

METHODS

We conducted an anonymous electronic survey among US nephrologists from January 19, 2021 to May 19, 2021, guided by the Consolidated Framework for Implementation Research. It assessed practice characteristics, genomic resource utilization, attitudes, perceived knowledge, self-efficacy, and factors influencing genetic testing decisions. Survey links were primarily shared with National Kidney Foundation members.

RESULTS

We analyzed 319 surveys, with most respondents specializing in adult nephrology. Although respondents generally acknowledged the clinical use of genomic resources, varying levels of perceived knowledge and self-efficacy were evident regarding precision nephrology workflows. Barriers to genetic testing included cost/insurance coverage and limited genomics experience.

CONCLUSION

The study illuminates specific hurdles nephrologists face using genomic resources. The findings are a valuable contribution to genomic implementation research, highlighting the significance of developing tailored interventions to support clinicians in using genomic resources effectively. These findings can guide the future development of CDS systems in the EHR. Addressing unmet informational and workflow support needs can enhance the integration of genomics into clinical practice, advancing personalized nephrology care and improving kidney disease outcomes. Further research should focus on interventions promoting seamless precision nephrology care integration.

摘要

引言

基因组医学对个性化肾脏病治疗具有变革潜力;然而,其临床整合面临挑战。电子健康记录(EHR)中的自动化临床决策支持(CDS)系统提供了一个有前景的解决方案,但影响有限。本研究旨在深入了解肾脏病医生在使用基因组资源时面临的挑战,为精准肾脏病决策支持工具提供参考。

方法

在实施研究综合框架的指导下,我们于2021年1月19日至2021年5月19日对美国肾脏病医生进行了一项匿名电子调查。该调查评估了实践特征、基因组资源利用情况、态度、感知知识、自我效能以及影响基因检测决策的因素。调查链接主要分享给了美国国家肾脏基金会成员。

结果

我们分析了319份调查问卷,大多数受访者专长于成人肾脏病学。尽管受访者普遍认可基因组资源的临床应用,但在精准肾脏病工作流程方面,感知知识和自我效能水平存在差异。基因检测的障碍包括成本/保险覆盖范围和有限的基因组学经验。

结论

该研究揭示了肾脏病医生在使用基因组资源时面临的具体障碍。这些发现对基因组实施研究具有重要贡献,突出了制定针对性干预措施以支持临床医生有效使用基因组资源的重要性。这些发现可为EHR中CDS系统的未来发展提供指导。满足未得到满足的信息和工作流程支持需求可加强基因组学在临床实践中的整合,推进个性化肾脏病治疗并改善肾脏疾病治疗效果。进一步的研究应聚焦于促进无缝精准肾脏病治疗整合的干预措施。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e327/11328575/3ff44f931575/gr1.jpg

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