Genes 2014, 5(3), 748-766; https://doi.org/10.3390/genes5030748
A Balanced Look at the Implications of Genomic (and Other “Omics”) Testing for Disease Diagnosis and Clinical Care
1
Department of Pathology, Stanford University, Stanford, CA 94305, USA
2
Department of Microbiology and Immunology, Stanford University, Stanford, CA 94305, USA
3
Department of Pediatrics, Stanford University, Stanford, CA 94305, USA
4
Department of Medicine, Stanford University, Stanford, CA 94305, USA
*
Author to whom correspondence should be addressed.
Received: 20 May 2014 / Revised: 20 July 2014 / Accepted: 18 August 2014 / Published: 1 September 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
Abstract
The tremendous increase in DNA sequencing capacity arising from the commercialization of “next generation” instruments has opened the door to innumerable routes of investigation in basic and translational medical science. It enables very large data sets to be gathered, whose interpretation and conversion into useful knowledge is only beginning. A challenge for modern healthcare systems and academic medical centers is to apply these new methods for the diagnosis of disease and the management of patient care without unnecessary delay, but also with appropriate evaluation of the quality of data and interpretation, as well as the clinical value of the insights gained. Most critically, the standards applied for evaluating these new laboratory data and ensuring that the results and their significance are clearly communicated to patients and their caregivers should be at least as rigorous as those applied to other kinds of medical tests. Here, we present an overview of conceptual and practical issues to be considered in planning for the integration of genomic methods or, in principle, any other type of “omics” testing into clinical care. View Full-Text
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).