Sync for Genes: Making Clinical Genomics Available for Precision Medicine at the Point-of-Care
Sync for Genes: Making Clinical Genomics Available for Precision Medicine at the Point-of-Care
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DOI：
10.1055/s-0040-1708051
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发表时间：
2020-03-01
影响因子：
2.9
通讯作者：
Freimuth, Robert R.
中科院分区：
文献类型：
--
作者：
Garcia, Stephanie J.;Zayas-Caban, Teresa;Freimuth, Robert R.
在护理点和研究中提供基因组数据对于精准医疗倡议（PMI）的成功至关重要，PMI是一项研究倡议，旨在通过“考虑到人们基因、环境和生活方式的个体差异”来改变医疗保健。国家卫生信息技术协调办公室（ONC）领导了“基因同步”计划，该计划旨在制定标准，使基因组数据在最重要的时间和地点可用。本文讨论了从最近的Sync for Genes活动中获得的经验教训。基因同步的目标是：(1)展示使用健康数据标准交换基因组数据，(2)为改进健康数据标准提供反馈，以及(3)综合项目经验，以支持在护理点和研究中整合基因组数据。方法4个组织参与了支持基因组数据共享的卫生7级国际（HL7 (R)）快速医疗互操作资源（FHIR (R)）标准的测试项目。ONC提供对主题专家、资源、工具和技术指导的访问，以支持测试活动。四个组织中的三个参加了HL7 FHIR连接马拉松，以测试FHIR交换基因组诊断报告的能力。结果各组织成功示范了利用FHIR交换基因组诊断报告。由这些活动产生的反馈和工件与HL7共享并公开可用。确定了四个领域是类似项目的重要考虑因素：(1)FHIR熟练程度，(2)开发人员支持，(3)项目范围，(4)连接健康信息技术和基因组专业知识。精准医疗是一个快速发展的领域，有机会继续完善健康数据标准，以交换必要的基因组数据，增加标准支持用户需求的可能性。
Background Making genomic data available at the point-of-care and for research is critical for the success of the Precision Medicine Initiative (PMI), a research initiative which seeks to change health care by "tak(ing) into account individual differences in people's genes, environments, and lifestyles." The Office of the National Coordinator for Health Information Technology (ONC) led Sync for Genes, a program to develop standards that make genomic data available when and where it matters most. This article discusses lessons learned from recent Sync for Genes activities.Objectives The goals of Sync for Genes were to (1) demonstrate exchange of genomic data using health data standards, (2) provide feedback for refinement of health data standards, and (3) synthesize project experiences to support the integration of genomic data at the point-of-care and for research.Methods Four organizations participated in a program to test the Health Level Seven International (HL7 (R) ) Fast Healthcare Interoperability Resources (FHIR (R) ) standard, which supports sharing genomic data. ONC provided access to subject matter experts, resources, tools, and technical guidance to support testing activities. Three of the four organizations participated in HL7 FHIR Connectathons to test FHIR's ability to exchange genomic diagnostic reports.Results The organizations successfully demonstrated exchange of genomic diagnostic reports using FHIR. The feedback and artifacts that resulted from these activities were shared with HL7 and made publicly available. Four areas were identified as important considerations for similar projects: (1) FHIR proficiency, (2) developer support, (3) project scope, and (4) bridging health information technology and genomic expertise.Conclusion Precision medicine is a rapidly evolving field, and there is opportunity to continue maturing health data standards for the exchange of necessary genomic data, increasing the likelihood that the standard supports the needs of users.