Clyne Mindy, Schully Sheri D, Dotson W David, Douglas Michael P, Gwinn Marta, Kolor Katherine, Wulf Anja, Bowen M Scott, Khoury Muin J
1] Kelly Services, Troy, Michigan, USA [2] Epidemiology and Genomics Research Program, National Cancer Institute, Bethesda, Maryland, USA.
Epidemiology and Genomics Research Program, National Cancer Institute, Bethesda, Maryland, USA.
Genet Med. 2014 Jul;16(7):535-8. doi: 10.1038/gim.2013.184. Epub 2014 Jan 9.
The dizzying pace of genomic discoveries is leading to an increasing number of clinical applications. In this report, we provide a method for horizon scanning and 1 year data on translational research beyond bench to bedside to assess the validity, utility, implementation, and outcomes of such applications.
We compiled cross-sectional results of ongoing horizon scanning of translational genomic research, conducted between 16 May 2012 and 15 May 2013, based on a weekly, systematic query of PubMed. A set of 505 beyond bench to bedside articles were collected and classified, including 312 original research articles; 123 systematic and other reviews; 38 clinical guidelines, policies, and recommendations; and 32 articles describing tools, decision support, and educational materials.
Most articles (62%) addressed a specific genomic test or other health application; almost half of these (n = 180) were related to cancer. We estimate that these publications account for 0.5% of reported human genomics and genetics research during the same time.
These data provide baseline information to track the evolving knowledge base and gaps in genomic medicine. Continuous horizon scanning of the translational genomics literature is crucial for an evidence-based translation of genomics discoveries into improved health care and disease prevention.
基因组发现的惊人速度正带来越来越多的临床应用。在本报告中，我们提供了一种前瞻性扫描方法以及关于从实验室到临床的转化研究的一年数据，以评估此类应用的有效性、实用性、实施情况和结果。
我们汇总了2012年5月16日至2013年5月15日期间基于对PubMed的每周系统查询而进行的正在进行的转化基因组研究前瞻性扫描的横断面结果。收集并分类了一组505篇从实验室到临床的文章，包括312篇原创研究文章；123篇系统评价和其他综述；38篇临床指南、政策和建议；以及32篇描述工具、决策支持和教育材料的文章。
大多数文章（62%）涉及特定的基因组检测或其他健康应用；其中近一半（n = 180）与癌症有关。我们估计这些出版物占同期报道的人类基因组学和遗传学研究的0.5%。
这些数据提供了基线信息，以跟踪基因组医学不断发展的知识库和差距。对转化基因组学文献进行持续的前瞻性扫描对于将基因组发现基于证据转化为改善医疗保健和疾病预防至关重要。
