Advantages of Array-Based Technologies for Pre-Emptive Pharmacogenomics Testing.
As recognised by the National Institutes of Health (NIH) Precision Medicine Initiative (PMI), microarray technology currently provides a rapid, inexpensive means of identifying large numbers of known genomic variants or gene transcripts in experimental and clinical settings. However new generation sequencing techniques are now being introduced in many clinical genetic contexts, particularly where novel mutations are involved. While these methods can be valuable for screening a restricted set of genes for known or novel mutations, implementation of whole genome sequencing in clinical practice continues to present challenges. Even very accurate high-throughput methods with small error rates can generate large numbers of false negative or false positive errors due to the high numbers of simultaneous readings. Additional validation is likely to be required for safe use of any such methods in clinical settings. Custom-designed arrays can offer advantages for screening for common, known mutations and, in this context, may currently be better suited for accredited, quality-controlled clinical genetic screening services, as illustrated by their successful application in several large-scale pre-emptive pharmacogenomics programs now underway. Excessive, inappropriate use of next-generation sequencing may waste scarce research funds and other resources. Microarrays presently remain the technology of choice in applications that require fast, cost-effective genome-wide screening of variants of known importance, particularly for large sample sizes. This commentary considers some of the applications where microarrays continue to offer advantages over next-generation sequencing technologies.
School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan 2308, Australia. Ali.Shahandeh@uon.edu.au.
Al
A
Shahandeh
The Bosch Institute and Discipline of Physiology, University of Sydney, Sydney 2006, Australia. Daniel.Johnstone@sydney.edu.au.
Daniel M
DM
Johnstone
School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan 2308, Australia. Joshua.Atkins@uon.edu.au.
Joshua R
JR
Atkins
School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan 2308, Australia. Jean-Marie.Sontag@newcastle.edu.au.
Jean-Marie
JM
Sontag
School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan 2308, Australia. Moones.Heidari@uon.edu.au.
Moones
M
Heidari
School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan 2308, Australia. Nilofar.Daneshi@uon.edu.au.
Nilofar
N
Daneshi
Institute of Genetics and Cytology, School of Life Sciences, Northeast Normal University, Changchun 130024, China. davfreeman82@yahoo.com.
Elvis
E
Freeman-Acquah
School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan 2308, Australia. Liz.Milward@newcastle.edu.au.
Elizabeth A
EA
Milward
microarray; next-generation sequencing; personalized healthcare; pharmacogenomics