Next Generation Sequencing: Transforms Today's Biology
Future of Genomics
Next generation sequencing (NGS), massively parallel or deep sequencing are related terms that describe a DNA sequencing technology which has revolutionised genomic research. Using NGS an entire human genome can be sequenced within a single day. In contrast, the previous Sanger sequencing technology, used to decipher the human genome, required over a decade to deliver the final draft. Although in genome research NGS has mostly superseded conventional Sanger sequencing, it has not yet translated into routine clinical practice. The aim of this article is to review the potential applications of NGS in paediatrics.
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Clinical genetics
There are numerous opportunities to use NGS in clinical practice to improve patient care, including:
The increased sensitivity of NGS allows detection of mosaic mutations Mosaic mutations are acquired as a postfertilisation event and consequently they present at variable frequency within the cells and tissues of an individual.
Microbiology
The main utility of NGS in microbiology is to replace conventional characterisation of pathogens by morphology, staining properties and metabolic criteria with a genomic definition of pathogens. The genomes of pathogens define what they are, may harbour information about drug sensitivity and inform the relationship of different pathogens with each other which can be used to trace sources of infection outbreaks.
Oncology
The fundamental premise of cancer genomics is that cancer is caused by somatically acquired mutations, and consequently it is a disease of the genome. Although capillary-based cancer sequencing has been ongoing for over a decade, these investigations were limited to relatively few samples and small numbers of candidate genes. With the advent of NGS, cancer genomes can now be systemically studied in their entirety, an endeavour ongoing via several large scale cancer genome projects around the world, including a dedicated paediatric cancer genome project.
Limitations
The main disadvantage of NGS in the clinical setting is putting in place the required infrastructure, such as computer capacity and storage, and also the personnel expertise required to comprehensively analyse and interpret the subsequent data. In addition, the volume of data needs to be managed skilfully to extract the clinically important information in a clear and robust interface. The actual sequencing cost of NGS is negligible.
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