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Current and Emerging Technology Approaches in Genomics
Article first published online: 7 JAN 2013
DOI: 10.1111/jnu.12001
No claim to original US government works
Abstract
Purpose: To introduce current and emerging approaches that are being utilized in the field of genomics so the reader can conceptually evaluate the literature and appreciate how these approaches are advancing our understanding of health-related issues.
Organizing Construct: Each approach is described and includes information related to how it is advancing research, its potential clinical utility, exemplars of current uses, challenges related to technologies used for these approaches, and when appropriate information related to understanding the evidence base for clinical utilization of each approach is provided. Web-based resources are included for the reader who would like more in-depth information and to provide opportunity to stay up to date with these approaches and their utility.
Conclusions: The chosen approaches—genome sequencing, genome-wide association studies, epigenomics, and gene expression—are extremely valuable approaches for collecting research data to help us better understand the pathophysiology of a variety of health-related conditions, but they are also gaining in utility for clinical assessment and testing purposes.
Clinical Relevance: Our increased understanding of the molecular underpinnings of disease will assist with better development of screening tests, diagnostic tests, tests that allow us to prognosticate, tests that allow for individualized treatments, and tests to facilitate post-treatment surveillance.
Improvements in genomic data collection technologies have been an important driving force behind the increased accuracy and rapidity in which we can currently collect genomic data. Improved accuracy and rapidity of data collection are also very important aspects of moving genomic findings into the clinical arena for translation to patient care. This article focuses on four approaches: genome sequencing (Biesecker, 2012; Rizzo & Buck, 2012), genome-wide association studies (GWAS; Marian, 2012), gene expression profiling (GEP; Arao, Matsumoto, Maegawa, & Nishio, 2011), and epigenomics (Emes & Farrell, 2012). Genome sequencing and GWAS both interrogate DNA directly, with the former generating information about the order of DNA nucleotide bases and the latter generating data about genotypes at specific places in the DNA. GEP interrogates messenger RNA (mRNA) that is generated when a gene is “active” and transcribed and therefore gives us information about gene regulation. Epigenomics interrogates the DNA, but unlike genome sequencing and GWAS it generates data related to chemical modifications and structure of the DNA, which impact gene regulation, and not the sequence or genotype information held in the DNA. Each of these approaches has utility and challenges, but all are contributing to our better understanding of important health-related issues and are gaining momentum for clinical value.
Our goal with this article is to introduce the reader to these approaches; discuss their application to current research, their current and potential clinical applications, and challenges related to using the technologies for data collection and interpreting data generated by these technologies; and, if appropriate, provide data related to evidence base for clinical application. This article incorporates a thorough literature review but is not intended to provide an exhaustive coverage of these approaches; however, additional online resources (see Clinical Resources) are provided for the reader who would like to gain more understanding of these approaches and associated technologies and the large-scale projects that are currently using them. We, as the authors, acknowledge that the information about these technologies, particularly in reference to current research findings and clinical applicability, changes rapidly. We hope that the online resources will also allow the reader to stay up to date with these technologies and their application to health care.
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