According to claims by Direct Genomics, a Chinese firm, it is introducing the first single molecule DNA sequencer for clinical use that does not require any amplification of the sample. The DNA or RNA molecules are read directly without first having to make a large number of copies.
The Single Molecule Targeted Sequencing (SMTS) technology within the GenoCare Analyzer uses total internal reflection fluorescence microscopy and single molecule fluorescent dyes to spot just the nucleic acid molecule.
The firm conducted initial testing of the instrument, releasing data from a prototype that showed sequencing accuracy of EGFR, KRAS, and BRAF genes to be 95% on average at 1X coverage and approaching 100% at 5X coverage.
The technology will see first use at three Chinese hospitals where it will be used to assess viral DNA in treating Hepatitis B patients and to spot circulating tumor DNA in oncology studies.
More about the technology according to Direct Genomics:
Direct Genomics’ GenoCare analyzer reads a patient’s original DNA molecules by a sequencing-by-synthesis methodology called single molecule targeted sequencing (SMTS). Single molecule sensitivity is achieved through total internal reflectance fluorescence (TIRF) microscopy, in which a precisely angled laser generates a fast-decaying, evanescent wave. This wave concentrates illumination to a patient’s DNA molecules, preventing illumination of unwanted contaminants that would otherwise obscure the faint signal from a single strand of DNA. SMTS also minimizes costs by sequencing solely the regions of a patient’s genome of clinical relevance, such as selected cancer genes known to influence resistance or susceptibility to therapeutics. The GenoCare™ sample preparation protocol requires only a single step, fragmenting the DNA, which further minimizes costs, labor, and the time to result. In the case of FFPE material, sonication may not even be needed.
Via: Direct Genomics…