Department of Biomedical Informatics and Program in Personalized Health Care, University of Utah, Salt Lake City, UT 84092, USA.
J Am Med Inform Assoc. 2013 Mar-Apr;20(2):388-400. doi: 10.1136/amiajnl-2012-000892. Epub 2012 Aug 25.
To review the literature on clinical decision support (CDS) for genetically guided personalized medicine (GPM).
MEDLINE and Embase were searched from 1990 to 2011. The manuscripts included were summarized, and notable themes and trends were identified.
Following a screening of 3416 articles, 38 primary research articles were identified. Focal areas of research included family history-driven CDS, cancer management, and pharmacogenomics. Nine randomized controlled trials of CDS interventions for GPM were identified, seven of which reported positive results. The majority of manuscripts were published on or after 2007, with increased recent focus on genotype-driven CDS and the integration of CDS within primary clinical information systems.
Substantial research has been conducted to date on the use of CDS to enable GPM. In a previous analysis of CDS intervention trials, the automatic provision of CDS as a part of routine clinical workflow had been identified as being critical for CDS effectiveness. There was some indication that CDS for GPM could potentially be effective without the CDS being provided automatically, but we did not find conclusive evidence to support this hypothesis.
To maximize the clinical benefits arising from ongoing discoveries in genetics and genomics, additional research and development is recommended for identifying how best to leverage CDS to bridge the gap between the promise and realization of GPM.
综述临床决策支持（CDS）在基因导向的个体化医学（GPM）中的应用文献。
从 1990 年到 2011 年，我们在 MEDLINE 和 Embase 上进行了检索。对入选文献进行总结，并确定主要的主题和趋势。
在筛选了 3416 篇文章后，我们确定了 38 篇原始研究文章。研究的重点领域包括基于家族史的 CDS、癌症管理和药物基因组学。我们确定了 9 项关于 GPM 的 CDS 干预的随机对照试验，其中 7 项报告了积极的结果。大多数文章发表于 2007 年或之后，最近的研究重点是基因型驱动的 CDS 和将 CDS 整合到主要的临床信息系统中。
迄今为止，已经有大量的研究致力于利用 CDS 来实现 GPM。在之前对 CDS 干预试验的分析中，我们发现作为常规临床工作流程一部分的自动提供 CDS 对于 CDS 的有效性至关重要。有一些迹象表明，在没有自动提供 CDS 的情况下，GPM 的 CDS 也可能有效，但我们没有找到确凿的证据来支持这一假设。
为了最大限度地利用遗传学和基因组学方面的不断发现所带来的临床效益，建议进行更多的研究和开发，以确定如何最好地利用 CDS 来弥合个体化医学的承诺与实现之间的差距。
