The legacy of the Human Genome Project and succeeding comparative genome sequencing efforts have left DNA sequencing synonymous with large-scale de novo genome sequencing, as far as the general public is concerned. However, in reality, the sequencing market encompasses a lot more than the high-throughput de novo genomic sequencing that goes on at roughly half a dozen large-scale genome sequencing centers throughout the world.
The portion of the DNA sequencing business that is actually growing, and sustaining a large part of revenue generation, is the low-to-medium throughput sub-segment, which includes 16-, 4-, and single-capillary instrumentation, as well as slab-gel instrumentation. Applications on low-to-medium throughput DNA sequencing technologies are, and will likely continue to be, a fundamental component of the market’s stabilization.
Only a small fraction of 2005’s DNA sequencing revenues came from sales of high-throughput instrumentation. The market for these instruments is fairly saturated; there is a mature instrument cycle now, and, as a result, there is little replacement of these systems. Market stability was attributed to the placement of low-to-medium throughput instruments for a variety of applications, mostly surrounding directed sequencing, forensics, or other projects that can be carried out with that level of throughput.
The fastest growing number of DNA sequencing projects are directed at interpreting the results of large-scale genome sequencing efforts, genetic biomarker discovery and validation, association studies, molecular diagnostics, pharmacogenomics, paternity testing, and so on.
The vast majority of low-to-medium throughput applications are associated with directed sequencing. Suppliers are responding to this market transition by augmenting their sequencing instrumentation with a broad range of consumables and software solutions applicable to the validation of disease-associated mutations, clinical research, and forensics.
Some of the applications available in 2005 included sequencing of individual gene exons or other small DNA fragments, resequencing the human mitochondrial genome, cDNA sequencing, GC-rich sequencing, RNAi template sequencing, serial analysis of gene expression sequencing, viral vector sequencing, 16S ribosomal RNA gene sequencing, primer walking, primer extension, DNA footprinting, SNP and mutation analysis, methylation analysis, copy number analysis, epigenomic analysis, AFLP analysis, microsatellite analysis, tilling, and ecotilling—all with simplified and integrated workflows.
The market transition away from high-throughput DNA sequencing technologies threatens to eat away at segment revenue growth. Consequently, suppliers are strategically enhancing their offering with specific and optimized applications, which has helped to compensate for the shrinking high-throughput market. By capitalizing on the market trend toward directed sequencing and introducing products specific to the extensive install base of medium-to-low throughput DNA sequencer technologies, suppliers’ revenues are expected to have a driving impact on market performance.