Roberts Megan C, Kennedy Amy E, Chambers David A, Khoury Muin J
Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, Maryland, USA.
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Genet Med. 2017 Aug;19(8):858-863. doi: 10.1038/gim.2016.210. Epub 2017 Jan 12.
The objective of this study was to identify trends and gaps in the field of implementation science in genomic medicine.
We conducted a literature review using the Centers for Disease Control and Prevention's Public Health Genomics Knowledge Base to examine the current literature in the field of implementation science in genomic medicine. We selected original research articles based on specific inclusion criteria and then abstracted information about study design, genomic medicine, and implementation outcomes. Data were aggregated, and trends and gaps in the literature were discussed.
Our final review encompassed 283 articles published in 2014, the majority of which described uptake (35.7%, n = 101) and preferences (36.4%, n = 103) regarding genomic technologies, particularly oncology (35%, n = 99). Key study design elements, such as racial/ethnic composition of study populations, were underreported in studies. Few studies incorporated implementation science theoretical frameworks, sustainability measures, or capacity building.
Although genomic discovery provides the potential for population health benefit, the current knowledge base around implementation to turn this promise into a reality is severely limited. Current gaps in the literature demonstrate a need to apply implementation science principles to genomic medicine in order to deliver on the promise of precision medicine.Genet Med advance online publication 12 January 2017.
本研究的目的是确定基因组医学实施科学领域的趋势和差距。
我们使用疾病控制与预防中心的公共卫生基因组知识库进行了文献综述，以研究基因组医学实施科学领域的当前文献。我们根据特定的纳入标准选择了原创研究文章，然后提取了有关研究设计、基因组医学和实施结果的信息。对数据进行汇总，并讨论文献中的趋势和差距。
我们的最终综述涵盖了2014年发表的283篇文章，其中大多数描述了对基因组技术的接受情况（35.7%，n = 101）和偏好（36.4%，n = 103），特别是肿瘤学方面（35%，n = 99）。研究人群的种族/族裔构成等关键研究设计要素在研究中报告不足。很少有研究纳入实施科学理论框架、可持续性措施或能力建设。
尽管基因组发现为人群健康带来了潜在益处，但目前围绕将这一前景变为现实的实施方面的知识库严重有限。文献中当前的差距表明，需要将实施科学原则应用于基因组医学，以实现精准医学的前景。《遗传医学》2017年1月12日在线优先发表。
