Kawamoto Kensaku, Lobach David F, Willard Huntington F, Ginsburg Geoffrey S
Division of Clinical Informatics, Department of Community and Family Medicine, Box 104007, Duke University Medical Center, Durham, North Carolina 27710, USA.
BMC Med Inform Decis Mak. 2009 Mar 23;9:17. doi: 10.1186/1472-6947-9-17.
In recent years, the completion of the Human Genome Project and other rapid advances in genomics have led to increasing anticipation of an era of genomic and personalized medicine, in which an individual's health is optimized through the use of all available patient data, including data on the individual's genome and its downstream products. Genomic and personalized medicine could transform healthcare systems and catalyze significant reductions in morbidity, mortality, and overall healthcare costs.
Critical to the achievement of more efficient and effective healthcare enabled by genomics is the establishment of a robust, nationwide clinical decision support infrastructure that assists clinicians in their use of genomic assays to guide disease prevention, diagnosis, and therapy. Requisite components of this infrastructure include the standardized representation of genomic and non-genomic patient data across health information systems; centrally managed repositories of computer-processable medical knowledge; and standardized approaches for applying these knowledge resources against patient data to generate and deliver patient-specific care recommendations. Here, we provide recommendations for establishing a national decision support infrastructure for genomic and personalized medicine that fulfills these needs, leverages existing resources, and is aligned with the Roadmap for National Action on Clinical Decision Support commissioned by the U.S. Office of the National Coordinator for Health Information Technology. Critical to the establishment of this infrastructure will be strong leadership and substantial funding from the federal government.
A national clinical decision support infrastructure will be required for reaping the full benefits of genomic and personalized medicine. Essential components of this infrastructure include standards for data representation; centrally managed knowledge repositories; and standardized approaches for leveraging these knowledge repositories to generate patient-specific care recommendations at the point of care.
近年来，人类基因组计划的完成以及基因组学的其他快速进展，引发了人们对基因组和个性化医学时代的日益期待。在这个时代，通过利用所有可用的患者数据，包括个体基因组及其下游产物的数据，来优化个体健康。基因组和个性化医学可以改变医疗保健系统，并大幅降低发病率、死亡率和总体医疗成本。
要实现由基因组学推动的更高效、更有效的医疗保健，关键在于建立一个强大的、覆盖全国的临床决策支持基础设施，以协助临床医生使用基因组检测来指导疾病预防、诊断和治疗。该基础设施的必要组成部分包括跨健康信息系统对基因组和非基因组患者数据的标准化表示；集中管理的可计算机处理的医学知识库；以及将这些知识资源应用于患者数据以生成并提供针对患者的护理建议的标准化方法。在此，我们提供了关于建立一个满足这些需求、利用现有资源并与美国卫生信息技术国家协调员办公室委托制定的《临床决策支持国家行动路线图》相一致的基因组和个性化医学国家决策支持基础设施的建议。建立这个基础设施的关键将是联邦政府的强有力领导和大量资金投入。
要充分发挥基因组和个性化医学的益处，将需要一个国家临床决策支持基础设施。该基础设施的基本组成部分包括数据表示标准；集中管理的知识库；以及利用这些知识库在护理点生成针对患者的护理建议的标准化方法。
