National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Department of Medicine, Center for Applied Genomics & Precision Medicine, Duke University, Durham, North Carolina, USA.
J Am Med Inform Assoc. 2022 Jul 12;29(8):1342-1349. doi: 10.1093/jamia/ocac057.
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.
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.
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.
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.
国家人类基因组研究咨询委员会基因组医学工作组以虚拟方式举办了第 13 次基因组医学会议，会议主题为“制定临床基因组信息学研究议程”。会议的目标是制定基于基因组的临床信息学工具和资源（GCIT）的研究策略，以改善临床环境中遗传疾病的检测、治疗和报告。
邀请了基因组医学和临床信息学领域的政府机构、私营部门和学术界的专家来解决会议的目标。还要求与会者完成一项调查，以评估制定基于基因组的临床信息学研究策略所需的重要考虑因素。
会议的结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相关的障碍，反过来，研究界可以帮助解决这些问题。
讨论集中在确定阻碍 GCIT 在基因组医学中应用的差距和障碍。会议的主题包括开发实施科学框架、为所有利益相关者定义一个价值主张、促进与患者和合作伙伴的合作，以开发患者控制下的应用程序、促进在研究中使用相关的临床工作流程，以及降低相关的监管流程障碍。另一个关键主题是认识到数据和信息系统、算法、访问、价值和知识库中的普遍偏见，并确定解决这些问题的方法。
