Since the emergence of sequencing in the 1980s, the field has seen an immense number of improvements in techniques, speed and cost. A report from the National Human Genome Research Institute (NHGRI) noted that technological improvements and automation have increased speed and lowered costs to the point where individual genes can be routinely sequenced and some labs have the capabilities to sequence well over 100 trillion bases each year. In addition, an entire genome can be sequenced for just a few thousand dollars. Given the speed of technological improvements, as you are read this there may be new improvements being used.

In January, a new line of NGS systems and the Ion 550 chip was introduced by Thermo Fisher Scientific. The Ion GeneStudio S5 Series consists of three systems:  the Ion GeneStudio S5, S5 Plus and S5 Prime Systems, which each offer different turnaround times. The Ion GeneStudio S5 Plus and S5 Prime Systems can be used with the new Ion 550 chip. Thermo Fisher announced that within the first week of the Systems’ launch, it had received over 30 orders for multiple Systems.

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A key differentiator, according to Thermo Fisher, is the ability to use multiple chips with one system, enabling the same instrument to be used for different applications that may have varying requirements for the number of reads and data output. This also allows users to run reads as needed without batch sample requirements.

Output ranges from 0.5 Gb to 50 Gb, while the number of reads is between 2 million and 260 million. Depending on the system and chip combination, the read lengths available are 200 bp, 400 bp and 600 bp.  Thermo Fisher noted that this ability aligns with its custom-designed Ion AmpliSeq On-Demand Panels, which can be created to suit a particular Ion Chip.

Among the applications suitable for the Ion 550 Chip are exome sequencing, targeted transcriptome sequencing and whole transcriptome sequencing.

As with the Ion 540 Chip, the Ion 550 chip can complete two runs in 24 hours. The latest chip provides 40–50 Gb of data in the two runs, while the Ion 540 provides 20-30 Gb. Among the applications suitable for the Ion 550 Chip are exome sequencing, targeted transcriptome sequencing and whole transcriptome sequencing.

One of the medical areas that has seen quite a bit of improvement with the use of sequencing is oncology. Physicians are increasingly able to utilize sequencing to detect the specific type of cancer that a patient has, thus allowing for the selection of more effective treatments. In addition, researchers have been able to use sequence data to identify genetic causes for rare diseases, and they are also looking at sequencing as a potential way to screen newborns for diseases and disease risk.

At some point in the near future, we may see the use of routine DNA sequencing in the doctor’s office, but in the meantime the technology is being used more routinely at large medical centers to detect and treat a number of diseases. Researchers are better able to compare large sections of DNA to the tune of one million bases or more from many people more quickly and less expensively.