A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources
A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources
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DOI：
10.1093/jamia/ocac057
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发表时间：
2022-04-29
影响因子：
6.4
通讯作者：
Williams, Marc S.
中科院分区：
文献类型：
--
作者：
Wiley, Ken;Findley, Laura;Williams, Marc S.
目的国家人类基因组研究咨询委员会基因组医学工作组虚拟主办了第13届基因组医学会议，题为《制定临床基因组信息学研究议程》。会议的目标是阐明一项研究战略，以开发基于基因组学的临床信息学工具和资源(GCIT)，以改进临床环境中遗传疾病的检测、治疗和报告。材料和方法来自政府机构、私营部门和学术界的基因组医学和临床信息学方面的专家应邀就会议目标发表讲话。受邀者还被要求完成一项调查，以评估开发基于基因组的临床信息学研究策略所需的重要考虑因素。会议的成果包括确定短期研究需求，例如设计和实施实验室信息系统与电子健康记录之间基于标准的接口，以及长期项目，例如确定和解决与建立和实施基因组数据交换系统有关的障碍，反过来，研究界可以帮助解决这些障碍。讨论集中在找出阻碍GCIT在基因组医学中使用的差距和障碍。会议的紧急主题包括开发实施科学框架，为所有利益相关者定义价值主张，促进与患者和合作伙伴的互动，在患者控制下开发应用程序，促进相关临床工作流程在研究中的使用，以及降低监管流程的相关障碍。另一个关键主题是认识到数据和信息系统、算法、访问、价值和知识储存库中普遍存在的偏见，并找出解决这些偏见的方法。
Objective The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings. Materials and Methods Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals. Invitees were also asked to complete a survey to assess important considerations needed to develop a genomic-based clinical informatics research strategy. Results Outcomes from the meeting included identifying short-term research needs, such as designing and implementing standards-based interfaces between laboratory information systems and electronic health records, as well as long-term projects, such as identifying and addressing barriers related to the establishment and implementation of genomic data exchange systems that, in turn, the research community could help address. Discussion Discussions centered on identifying gaps and barriers that impede the use of GCIT in genomic medicine. Emergent themes from the meeting included developing an implementation science framework, defining a value proposition for all stakeholders, fostering engagement with patients and partners to develop applications under patient control, promoting the use of relevant clinical workflows in research, and lowering related barriers to regulatory processes. Another key theme was recognizing pervasive biases in data and information systems, algorithms, access, value, and knowledge repositories and identifying ways to resolve them.