Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Dec 18;3(4):306-25.
doi: 10.3390/jpm3040306.

The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information

Brandon M Welch  1 , Kensaku Kawamoto  2
Affiliations

The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information

Brandon M Welch et al. J Pers Med. .

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.

Keywords: clinical decision support systems; electronic health records; genetic testing; genomics; health information technology; medical genetics; personalized medicine.

PubMed Disclaimer

Figures

Figure 1
Figure 1
A graphical representation of a proposed scalable clinical decision support (CDS) architecture that can leverage whole genome sequencing (WGS) information.
See this image and copyright information in PMC

References

    1. Wetterstrand K. DNA sequencing costs: Data from the NHGRI Genome Sequencing Program (GSP) [(accessed on 6 February 2013)]. Available online: http://www.genome.gov/sequencingcosts/
    1. Bonetta L. Whole-genome sequencing breaks the cost barrier. Cell. 2010;141:917–919. doi: 10.1016/j.cell.2010.05.034. - DOI - PubMed
    1. Rope A.F., Wang K., Evjenth R., Xing J., Johnston J.J., Swensen J.J., Johnson W.E., Moore B., Huff C.D., Bird L.M., et al. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am. J. Hum. Genet. 2011;89:28–43. doi: 10.1016/j.ajhg.2011.05.017. - DOI - PMC - PubMed
    1. Ashley E.A., Butte A.J., Wheeler M.T., Chen R., Klein T.E., Dewey F.E., Dudley J.T., Ormond K.E., Pavlovic A., Morgan A.A., et al. Clinical assessment incorporating a personal genome. Lancet. 2010;375:1525–1535. doi: 10.1016/S0140-6736(10)60452-7. - DOI - PMC - PubMed
    1. Lupski J.R., Reid J.G., Gonzaga-Jauregui C., Rio Deiros D., Chen D.C., Nazareth L., Bainbridge M., Dinh H., Jing C., Wheeler D.A., et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 2010;362:1181–1191. doi: 10.1056/NEJMoa0908094. - DOI - PMC - PubMed

LinkOut - more resources