Program in Personalized Health Care, University of Utah, 15 North 2030 East, EIHG Room 2110, Salt Lake City, UT 84112, USA ; Department of Biomedical Informatics, University of Utah, 26 South 2000 East, Room 5775 HSEB, Salt Lake City, UT 84112, USA.
Department of Biomedical Informatics, University of Utah, 26 South 2000 East, Room 5775 HSEB, Salt Lake City, UT 84112, USA.
J Pers Med. 2013 Dec 18;3(4):306-25. doi: 10.3390/jpm3040306.
Whole genome sequencing (WGS) is rapidly approaching widespread clinical application. Technology advancements over the past decade, since the first human genome was decoded, have made it feasible to use WGS for clinical care. Future advancements will likely drive down the price to the point wherein WGS is routinely available for care. However, were this to happen today, most of the genetic information available to guide clinical care would go unused due to the complexity of genetics, limited physician proficiency in genetics, and lack of genetics professionals in the clinical workforce. Furthermore, these limitations are unlikely to change in the future. As such, the use of clinical decision support (CDS) to guide genome-guided clinical decision-making is imperative. In this manuscript, we describe the barriers to widespread clinical application of WGS information, describe how CDS can be an important tool for overcoming these barriers, and provide clinical examples of how genome-enabled CDS can be used in the clinical setting.
全基因组测序（WGS）正迅速接近广泛的临床应用。自第一个人类基因组被解码以来，过去十年中的技术进步使 WGS 用于临床护理成为可能。未来的进步可能会降低价格，使 WGS 成为常规护理的选择。然而，如果今天就实现这一目标，由于遗传学的复杂性、医生在遗传学方面的专业水平有限以及临床工作人员中缺乏遗传学专业人员，可用的大部分指导临床护理的遗传信息将无法使用。此外，这些限制在未来不太可能改变。因此，使用临床决策支持（CDS）来指导基于基因组的临床决策至关重要。在本文中，我们描述了 WGS 信息广泛应用于临床的障碍，描述了 CDS 如何成为克服这些障碍的重要工具，并提供了基因组支持的 CDS 在临床环境中使用的临床示例。
