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首页> 外文期刊>BMC Medical Informatics and Decision Making >A national clinical decision support infrastructure to enable the widespread and consistent practice of genomic and personalized medicine
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A national clinical decision support infrastructure to enable the widespread and consistent practice of genomic and personalized medicine

机译：国家临床决策支持基础设施，以支持基因组和个性化医学的广泛一致的实践

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Background 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. Discussion 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. Summary 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.
机译：背景技术近年来，人类基因组计划的完成以及基因组学的其他快速发展，导致人们越来越期待基因组和个性化医学的时代，在该时代，通过使用所有可用的患者数据（包括数据）来优化个人的健康状况在个体的基因组及其下游产物上。基因组学和个性化医学可以改变医疗保健系统，并大大降低发病率，死亡率和整体医疗保健成本。讨论建立一个健壮的，全国性的临床决策支持基础架构，以帮助基因组学实现更有效的医疗保健，该基础架构可协助临床医生使用基因组分析来指导疾病的预防，诊断和治疗。该基础架构的必要组成部分包括跨健康信息系统的基因组和非基因组患者数据的标准化表示;集中管理的计算机可处理医学知识存储库;用于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，我们为建立满足这些需求，利用现有资源并与美国国家卫生协调局委托的《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提供建议信息技术。建立这种基础设施的关键是强有力的领导和联邦政府的大量资金。总结为了获得基因组和个性化医学的全部利益，将需要国家临床决策支持基础架构。该基础架构的基本组件包括数据表示标准;集中管理的知识库以及利用这些知识库的标准化方法来在护理点生成针对患者的护理建议。

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