title: The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information.
abstract: 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.
authors.affiliation: 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.
authors.forename: Brandon M
authors.initials: BM
authors.lastname: Welch
authors.affiliation: Department of Biomedical Informatics, University of Utah, 26 South 2000 East, Room 5775 HSEB, Salt Lake City, UT 84112, USA.
authors.forename: Kensaku
authors.initials: K
authors.lastname: Kawamoto
keywords: clinical decision support systems; electronic health records; genetic testing; genomics; health information technology; medical genetics; personalized medicine