Whole Genome Sequencing: A Considered Approach to Clinical Implementation

Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 04/2013; Chapter 9:Unit9.22. DOI: 10.1002/0471142905.hg0922s77
Source: PubMed


The recent entry of "whole" exome/"whole" genome sequencing into limited clinical practice has led to a progression of the availability of genome-scale testing beyond deletion/duplication copy number arrays. This unit provides a considered approach to the implementation of such testing in routine clinical practice. Specifically, we will highlight the challenges in patient selection and consent, and the technical issues surrounding test interpretation and reporting. The unit will then provide practical solutions that allow for genome-wide sequencing to be implemented in current clinical practice. Curr. Protoc. Hum. Genet. 77:9.22.1-9.22.7. © 2013 by John Wiley & Sons, Inc.

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    • "We did query the subjects about their experience with other packages throughout the evaluations, such that the user perspectives presented in this study are not restricted to the evaluated tools but also informed by exposure to various commercial and open-source platforms. As access to low-cost DNA sequencing grows, it is anticipated that whole genome sequence analysis will become a standard diagnostic tool for many fields [49] [50]. The complexity of genome data and annotations will continue to increase as the technologies mature, making it imperative to develop better interfaces that streamline analyses and improve quality. "
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    • "Aside from costs, there remain several issues to be addressed as these unbiased genetic technologies are offered more commonly [73]. Discriminating whether an identified abnormality is disease-causing or a benign variant is a major obstacle that has been addressed by the American College of Medical Genetics and Genomics [74]. "
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