Gene detection technology in diagnostic laboratories: What new pressures will be faced?

The rapid development of massively parallel sequencing technology and NGS platform has caused subversive changes in the management of hereditary diseases. Early clinical studies of most genetic tests have shown that NGS provides a highly sensitive, highly specific, and cost-effective diagnostic tool compared to existing methods. Currently, NGS is increasingly attracting diagnostic laboratories in the clinic.

As the demand for genetic testing increases, the pressure on diagnostic laboratories is increasing. They need to continuously improve the screening ability of genetic mutations, and the clinical significance of the variants still faces enormous challenges, and the complexity of the genetic testing process. Sexuality increases the difficulty of NGS diagnosis, including the NGS platform, enrichment methods, and the complexity of bioinformatics analysis.

Efficient, cost-effective mutation detection methods and standardized, systematic NGS test reports are basic requirements for diagnosis. Recently, Nature magazine of Human Journals published a new challenge for BRCA gene detection from the perspective of diagnostic laboratories.

Challenge 1: The choice of sequencing platform

With the development of technology, the NGS platform enables gigabase large-scale DNA sequencing within a short run time (<24H), such as Ilemia's Miseq and Life Technologies' PGM.

By attaching random fragments of genomic DNA to optically transparent surfaces, MiSeq forms a flowcell with hundreds of millions of clusters by extension and bridge amplification, each cluster having about 1000 copies of the same DNA template, and then Four different fluorescently labeled bases whose ends were blocked were sequenced while synthesizing.

Life Technologies' Ion Personal Genome Machine (PGM) Sequencer

Ion Torrent PGM uses a high-density semiconductor aperture chip. The chip is placed on an ion-sensitive layer and an ion susceptor. Whenever a nucleotide molecule is incorporated, protons are released, and the ion receptor senses the signal, knowing which nucleotide was Incorporation, thereby reading out the DNA sequence.

The rapid development of sequencing platforms has made some publications' statements somewhat outdated. In view of this, the diagnostic laboratory should pay attention to the update of the platform when selecting the NGS platform, including the update of the guide by molecular ecologists.

However, the choice of platform is only one of the factors that need to be considered in the NGS workflow, which is interdependent with other factors, including enrichment methods and data analysis.

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